Benign intracranial hypertension is characterized by an elevation of the CSF pressure that is not caused by hydrocephalus or any space-occupying lesion. The cause is most likely the decreased absorption of CSF into the dural sinuses. The main symptoms are headache and visual abnormalities. It can lead to blindness if not managed on time. The most important risk factors for BIH are female gender and obesity. The causes of BIH include iron deficiency anaemia, sarcoidosis, Lyme disease, SLE, polycythaemia vera, chronic kidney disease, meningitis, and sleep apnoea.

Perforated appendices are common in children as it is more difficult to surgically assess an unwell child due to poor localisation of abdominal pain, and their inability to express discomfort. They are therefore prone to a greater risk of post operative complications including would infections, intra abdominal fluid collections, and chest infections. In the above scenario the spiking temperature points to an abscess, which characteristically presents with a swinging temperature. The fever is unlikely due to bacterial resistance as blood tests performed post surgery would have indicated any resistance, and a UTI is also unlikely since the child is already on antibiotics. As his chest is clinically clear, a severe chest infection may be ruled out, leaving intra-abdominal collection as the most likely explanation.

In children, food-induced anaphylaxis is the most common trigger and accounts for 37 %-85 % of cases, whereas insect bites/stings account for 5 %-13 % and medications account for 5 %-12 %
Despite differences between studies, food allergy is clearly the most common cause of anaphylaxis in children

Based on the clinical scenario provided, this patient most probably has impacted gall stones.

Gall stones in children can be caused by haematological diseases such as sickle cell anaemia and thalassemia.
Cholesterol stones are also becoming more prevalent. A dilated common bile duct (> 10mm in adults) suggests gall stone impaction.
The presence of pyrexia indicates cholecystitis.

The progesterone is primarily responsible for preventing pregnancy. The main mechanism of action is the prevention of ovulation; they inhibit follicular development and prevent ovulation. Progestogen negative feedback works at the hypothalamus to decreases the pulse frequency of gonadotropin-releasing hormone. This, in turn, will decrease the secretion of follicle-stimulating hormone (FSH) and decreases the secretion of luteinizing hormone (LH). If the follicle isn’t developing, then there is no increase in the oestradiol levels (the follicle makes oestradiol). The progestogen negative feedback and lack of oestrogen positive feedback on LH secretion stop the mid-cycle LH surge. With no follicle developed and no LH surge to release the follicle, there is the prevention of ovulation. Oestrogen has some effect with inhibiting follicular development because of its negative feedback on the anterior pituitary with slows FSH secretion; it’s just not as prominent as the progesterone’s effect. Another primary mechanism of action is progesterone’s ability to inhibit sperm from penetrating through the cervix and upper genital tract by making the cervical mucous unfriendly. Progesterone induced endometrial atrophy should deter implantation, but there is no proof that this occurs.

Urine culture and sensitivity is used to diagnose a urinary tract infection (UTI). A mid-stream clean catch urine sample is the most common type of sample collected. It is important to follow the clean catch process to have accurate results from an uncontaminated sample. Urine cultures can also check for infections of the bladder or kidney.

Based on the clinical scenario, the most probable diagnosis for this patient is maxillary sinusitis.

The maxillary sinus drains from its superior aspect, leaving it prone to infections. It is the most commonly affected sinus in sinusitis.

Common symptoms of maxillary sinusitis include postnasal discharge, pain, headache and toothache.
Radiological imaging may show a fluid level in the antrum.
Common organisms causing maxillary sinusitis include Haemophilus influenzae or Streptococcus pneumoniae.
Treatment with antral lavage may facilitate diagnosis and relieve symptoms. Antimicrobial therapy has to be continued for long periods. Antrostomy may be needed.

Other options:
– Frontal sinusitis more commonly causes intracranial complications, but it is still less frequent than maxillary sinusitis.
– The petrosal sinus is not a cavity within bone; rather, it is a venous structure located beneath the brain.
– Frontoethmoidal sinusitis: It usually presents with frontal headache, nasal obstruction and altered sense of smell. Inflammation may progress to involve periorbital tissues. Ocular symptoms may occur, and secondary CNS involvement brought about by infection entering via emissary veins. CT scanning is the imaging modality of choice. Early cases may be managed with antibiotics. More severe cases usually require surgical drainage.

The heart is the first organ to form and become functional, emphasizing the importance of transport of material to and from the developing infant. It originates about day 18 or 19 from the mesoderm and begins beating and pumping blood about day 21 or 22. It forms from the cardiogenic region near the head and is visible as a prominent heart bulge on the surface of the embryo. Originally, it consists of a pair of strands called cardiogenic cords that quickly form a hollow lumen and are referred to as endocardial tubes. These then fuse into a single heart tube and differentiate into the truncus arteriosus, bulbus cordis, primitive ventricle, primitive atrium, and sinus venosus, starting about day 22. The primitive heart begins to form an S shape within the pericardium between days 23 and 28. The internal septa begin to form about day 28, separating the heart into the atria and ventricles, although the foramen ovale persists until shortly after birth. Between weeks five and eight, the atrioventricular valves form. The semilunar valves form between weeks five and nine.

Adenoid tissue sometimes swell as a result of fighting off the infection as germs are trapped in the adenoids. Adenoid enlargement is suspected.

In the pattern of mendelian inheritance, X- linked dominant inheritance means that all who inherit the X chromosome will present with the condition. In the case of maternal x-linked inheritance, sons and daughters have an equal chance of inheriting the condition as there is a 50% chance of inheriting the defective X chromosome from their mother as opposed to a non affected X chromosome from their father. However, in paternal X-linked dominant inheritance, sons will be unaffected as they inherit a Y chromosome from their father while daughters are sure to inherit the defective X-chromosome.

Doctors must perform an infection screen and treat with intravenous antibiotics for at least 48 hours pending results to prevent neonatal sepsis. Risk factors for neonatal sepsis include rupture of the membranes.
Risk factors for neonatal sepsis include rupture of membranes greater than 12-24 hours, intrapartum maternal pyrexia (> 38°C), fetal tachycardia, chorioamnionitis, pre-term birth and maternal colonisation with group B Streptococcus. In this case there are two risk factors: prolonged rupture of membranes, and pre-term birth.

Cyanotic congenital heart disease (CCHD) is a common cause of neonatal morbidity and mortality. They can be classified as CCHD due to:
– Right-to-left shunt, associated with the decreased pulmonary flow, e.g., tetralogy of Fallot (TOF), pulmonary atresia, right-sided hypoplastic heart,
– Right-to-left shunt, associated with the decreased aortic flow, e.g., left-sided hypoplastic heart, interrupted arch, severe coarctation;
– Bidirectional shunt, e.g., TGA, DORV, TA, etc.
Eisenmenger syndrome is not a neonatal CCHD; rather it develops later in young adulthood secondary to various CHD.

There are 6 pharyngeal arches, the fifth does not contribute any useful structures and often fuses with the sixth arch. The structures arising from the aortic arches are as follows:
First aortic arch: It regresses except for a very small part that gives rise to the maxillary artery.
Second aortic arch: It regresses except for a very small part giving rise to the stapedial artery.
Third aortic arch: This arch is the source of the common carotid artery and the proximal part of the internal carotid artery, and the external carotid which arises as a bud from this arch.
Right Fourth aortic arch: Is the genesis of the proximal part of the right subclavian artery.
Left Fourth aortic arch: Gives rise to the medial portion of the arch of the aorta.
Fifth aortic arch: The fifth aortic arch regresses completely and very early in the development.
Sixth aortic arch: Either of the sixth aortic arches divides into ventral and dorsal segments, and therefore, their derivatives also divide into these two segments.
Right Sixth Arch:
Ventral: Gives rise to the right pulmonary artery.
Dorsal: It degenerates completely and loses its connection with the dorsal aorta.
Left Sixth Arch
Ventral: It gives rise to the left pulmonary artery that goes to the left pulmonary bud.
Dorsal: It forms a vital connection during intrauterine life between the left pulmonary artery and the arch of the aorta. This structure is called ductus arteriosus.

The selection process is based on five requirements and essentially aims to select a random representative cohort through:
1.Isolating a group for which there is a greater or lesser chance of detecting a possible difference between the treatments compared;
2.Establishing a homogeneous group in order to reduce the variability of response, thus making statistical comparison more sensitive and decreasing the risk of bias due to the constitution of non-homogeneous groups;
3.Obtaining representative samples of the affection studied;
4.Defining the rules corresponding to realistic recruitment;
5.Respecting ethical obligations.

A case-control study (also known as case-referent study) is a type of observational study in which two existing groups differing in outcome are identified and compared on the basis of some supposed causal attribute. Case-control studies are often used to identify factors that may contribute to a medical condition by comparing subjects who have that condition/disease (the cases) with patients who do not have the condition/disease but are otherwise similar (the controls).

An odds ratio (OR) is a statistic that quantifies the strength of the association between two events, A and B. The odds ratio is defined as the ratio of the odds of A in the presence of B and the odds of A in the absence of B or vice versa.

A bone age study helps doctors estimate the maturity of a child’s skeletal system. It’s usually done by taking a single X-ray of the left wrist, hand, and fingers. It is a safe and painless procedure that uses a small amount of radiation. The bones on the X-ray image are compared with X-rays images in a standard atlas of bone development, which is based on data from large numbers of other kids of the same gender and age. The bone age is measured in years.

The most common manifestation of Wilms tumour is an asymptomatic abdominal mass; an abdominal mass occurs in 80% of children at presentation. Abdominal pain or haematuria occurs in 25%. Urinary tract infection and varicocele are less common findings than these. Hypertension, gross haematuria, and fever are observed in 5-30% of patients. A few patients with haemorrhage into their tumour may present with hypotension, anaemia, and fever. Rarely, patients with advanced disease may present with respiratory symptoms related to lung metastases.

The presentation of the patient and the characteristic ring-like (Bull’s eye) rash are highly suggestive of a diagnosis of Lyme disease caused by Borrelia burgdorferi. The spirochete is transmitted by Ixodid ticks.

The initial presentation of this infection includes an erythema migrans rash that starts from the site of tick bite and gradually expands. Other features supporting the diagnosis are the history of camping, fever, joint pain, and the neurological symptoms presenting as facial nerve palsy.

There are two lateral rotators of the arm, the infraspinatus and the teres minor muscles. The infraspinatus muscle receives nerve supply from C5 and C6 via the suprascapular nerve, whilst the teres minor is supplied by C5 via the axillary nerve.

Power calculations are a important step in study design and preparation, but do not directly help with the interpretation of the results. They are used to determine how many subjects are needed in order to avoid errors in accepting or rejecting the null hypothesis. These calculations are not usually complex and for the best results, the power of the test should be set to above 80%.

Cranial nerve VI, also known as the abducent nerve, innervates the ipsilateral lateral rectus (LR), which functions to abduct the ipsilateral eye.
Patients usually present with an isolated abduction deficit, binocular horizontal diplopia, worse in the distance, and esotropia in primary gaze. Patients also may present with a head-turn to maintain binocularity and binocular fusion and to minimize diplopia
Examination for a sixth nerve palsy involves documenting the presence or absence of papilledema, examining the ocular motility, evaluating the eyelids and pupils, and excluding involvement of other cranial nerves (e.g., V, VII, VIII).

Retinopathy of prematurity affects infants born early, and is due to the abnormal growth of retinal vasculature as opposed to vascular occlusion often see in adults. Though most babies with ROP can see normally, the most significant complication of ROP Is retinal detachment which can lead to blindness. Other structures in the eye such as the optic nerve or the fovea however, are not affected. Children may develop nystagmus as a result of poor sight in the affected eye(s).

The correct answer is triple X syndrome with a genotype of XXX and an almost normal female phenotype. The extra X chromosome is inactive.
The final phenotype of an individual is determined after normal sexual and gonadal differentiation, a process that involves several genes located on chromosomes X and Y. Disorders of sexual differentiation result in cases of ambiguous genitalia and are caused by a number of genetic abnormalities. Among these disorders is the turner syndrome with a genotype of 45X0, characterized by gonadal dysgenesis and ovarian failure.
DAX-1 gene mutation leads to congenital adrenal hypoplasia and hypogonadotropic hypogonadism, which results in virilization of female external genitalia.
Campomelic dysplasia results from mutation of the SOX-9 gene, leading to 46XY sex reversal.
Danys-Drash syndrome is characterized by disordered sexual development in affected males due to the mutated WT-1 gene, which also causes Wilm’s tumour.

While the results of this before and after study can provide some preliminary insight into the effects of the dietary intervention, the results should be viewed with great caution as they may be considered merely anecdotal. The lack of a control group contributes to confounding the data. Therefore, while the difference may be statistically significant and the confidence interval is compatible with a fall in the number of seizures after therapy, the results cannot be introduced as the standard without a control group to compare with.

Perthes’ disease is a disease of the hip in children. It presents with pain that is typically located in the groin area. The pain is often present only during physical activity. Most children seek medical attention because of limping.

Osgood-Schlatter disease is pain caused by inflammation of the patella tendon at the tibial insertion.

Slipped upper femoral epiphysis occurs classically in adolescence (M:F = 3:2)

Distal renal tubular acidosis (dRTA) is characterised by a decreased hydrogen ion excretion from the alpha intercalated cells of the collecting duct of the distal nephron. The resultant acidosis causes Ca and phosphates to be released from bones to buffer the acidosis causing hypercalciuria, thus precipitating calcium compounds in the kidney. Other consequences of the dRTA in children include rickets, hypokalaemia, and polyuria. While dRTA can occur as a result of various pathologies including autoimmune disease, proximal renal tubular acidosis often presents as part of Fanconi’s syndrome. One way to differentiate between the two conditions is with an acid challenge test. In proximal RTA offering the child an acid load will decrease the urinary ph whereas in distal disease the pH will be unaffected due to impairment in hydrogen ion secretion.

Orbital bone fracture: The child has sustained a head injury and subsequently describes a CSF rhinorrhoea (indicating a cerebro-spinal fluid leak). CSF rhinorrhoea can occur in skull or nasal bone fractures. Given the symptoms of loss of consciousness and headache, this child is more at risk of having suffered a skull fracture requiring emergency CT head investigation and specialist neurosurgical management. An ethmoid bone fracture may also present this way. A skull x ray would help to determine an air fluid level and indeed allow some visualisation of the nasal bones, though in children the nasal bones do not visualise well due to lack of fusion. Either way this child would need assessment in the nearest Emergency Department and the school would be expected to follow a ‘head injury’ protocol.

Patients with breast cancer develop clinical symptoms rather late at advanced tumour stages. Typical signs may include:
Changes in breast size and/or shape; asymmetric breasts
Palpable mass: typically a single, nontender, firm mass with poorly defined margins, most commonly in the upper outer quadrant
Skin changes: Retractions or dimpling (due to tightening of the Cooper ligaments), Peau d’orange: skin resembling an orange peel (due to obstruction of the lymphatic channels): Redness, oedema, and pitting of the hair follicles
Nipple changes: inversion, blood-tinged discharge
Axillary lymphadenopathy: firm, enlarged lymph nodes (> 1 cm in size), that are fixed to the skin or surrounding tissue
In advanced stages: ulcerations

The child requires frequent BP evaluation every 15 to 30 minutes. Normalisation of his BP should be achieved in a 48h interval. An ophthalmology assessment is indicated to check for acute injury of the blood vessels in the eye due to the elevated blood pressure.

In case control studies, observational studies are made to compare two groups, individuals with a certain condition, to those without the condition, with all other factors being equal. In the situation presented by the question, the study was to determine whether a prior risk factor, a low birth weight, was associated with later developing adolescent hypertension, using a paired t-test to statistically determine whether there was indeed a significant association between the two conditions. Case control studies only help to draw associations between two groups and therefore cannot indicate causation. In this scenario we are also not given the p value to determine whether the association is statistically significant. Therefore there is not enough evidence to conclude whether or not birthweight affects the development of adolescent hypertension.

The sympathetic chain lies posterior to the parietal pleura. During a thorascopic sympathectomy, this structure will have to be divided.
The intercostal vessels lie posteriorly. They may be damaged with troublesome bleeding but otherwise are best left alone as the deliberate division will not improve surgical access.

The sympathetic nervous system:
The cell bodies of the preganglionic efferent neurones lie in the lateral horn of the grey matter of the spinal cord in the thoracolumbar regions.
The preganglionic efferents leave the spinal cord at levels T1-L2. These pass to the sympathetic chain.
Lateral branches of the sympathetic chain connect it to every spinal nerve. These postganglionic nerves will pass to structures that receive sympathetic innervation at the periphery.
Sympathetic chains:
These lie on the vertebral column and run from the base of the skull to the coccyx.

Clinical correlation:
Interruption of the head and neck supply of the sympathetic nerves will result in an ipsilateral Horner’s syndrome.
For the treatment of hyperhidrosis, the sympathetic denervation can be achieved by removing the second and third thoracic ganglia with their rami.
Removal of T1 will cause a Horner’s syndrome and is therefore not performed.
In patients with vascular disease of the lower limbs, lumbar sympathectomy may be performed, either radiologically or (more rarely now) surgically. The ganglia of L2 and below are disrupted.
Care should be taken to preserve the L1 ganglion. If it is removed in male patients, ejaculation may be compromised.

Due to breakdown of the red blood cell membrane in haemophilic patients, cholesterol crystals are formed by the lipids. On the other hand lipofuscin deposition does not occur in haemolysis or haemorrhage. Neutrophil accumulation suggests acute inflammation. Anthracotic pigment is an exogenous carbon pigment that deposits in the lung from dust. Russell bodies are intracellular accumulations of immunoglobins in plasma cells. Curschmann’s spirals and Charcot Leyden crystals are pathognomonic of asthma.

An epidural hematoma occurs when there is bleeding between the dura mater (a tough fibrous layer of tissue between the brain and skull) and the skull bone. These occur when arteries are torn as a result of a blow to the head, and injury in the temple area is a common cause. Although the pattern of a lucid interval followed by later neurological symptoms is characteristic, only a minority of patients display this pattern of symptoms. Reported death rates from epidural hematoma vary widely, ranging from 5% to over 40%. Middle meningeal artery is frequently involved in such incidents.

Cystic fibrosis is an autosomal recessive inherited disorder that affects the lungs or the pancreas. In the case of an affected child whose parents do not have the disorder but carry one copy of the mutated gene, each sibling has a 50% chance of being a carrier of the disease. They can inherit one copy of the gene from each parent. There is a 25 % chance that the child may inherit both mutated genes and be homozygous for the trait.

Standard deviation is defined as the measure of dispersion of a set of data from its mean. It measures the absolute variability of a distribution; the higher the dispersion or variability, the greater is the standard deviation and greater will be the magnitude of the deviation of the value from their mean.

Munchausen syndrome by proxy is a mental illness and a form of child abuse. The caretaker of a child, most often a mother or a father, either makes up fake symptoms or causes real symptoms to make it look like the child is sick. The person with MSP gains attention by seeking medical help for exaggerated or made-up symptoms of a child in his or her care. As health care providers strive to identify what’s causing the child’s symptoms, the deliberate actions of the mother or caretaker can often make the symptoms worse.
The person with MSP does not seem to be motivated by a desire for any type of material gain. People with MSP may create or exaggerate a child’s symptoms in several ways. They may simply lie about symptoms, alter tests (such as contaminating a urine sample), falsify medical records, or they may actually induce symptoms through various means, such as poisoning, suffocating, starving, and causing infection.

Multiple endocrine neoplasia type 1 is a rare, autosomal dominant disorder characterized by a higher propensity to develop various endocrine and nonendocrine tumours. The primary endocrine tumours that are a part of this disorder include carcinoid tumours and tumours of parathyroid, enteropancreatic, and anterior pituitary origin. Carcinoid tumours encountered in MEN type 1 are mostly of the foregut region. Non-endocrine tumours found in MEN type 1 include meningiomas and ependymomas, lipomas, angiofibromas, collagenomas, and leiomyomas. The pathogenesis of MEN type 1 is the inactivating mutation of the tumour suppressor gene MEN 1, which encodes the protein menin.

The clinical scenario presented is highly suggestive of vitamin C deficiency (Scurvy).

Vitamin C is found in citrus fruits, tomatoes, potatoes, Brussel sprouts, cauliflower, broccoli, cabbage and spinach.
Deficiency leads to impaired collagen synthesis and disordered connective tissue.
Scurvy is associated with severe malnutrition as well as drug and alcohol abuse, and those living in poverty with limited access to fruits and vegetables.

Symptoms and signs include:
– Follicular hyperkeratosis and perifollicular haemorrhage
– Ecchymosis
– Gingivitis with bleeding and receding gums
– Sjogren’s syndrome
– Arthralgia
– Oedema
– Impaired wound healing
– Generalised symptoms such as weakness, malaise, anorexia and depression

MMR vaccine is a live vaccine. It contains measles, mumps and rubella. These vaccines should be avoided during chemotherapy and for 6 months after.

The boy needs re-hydration and hydro-electrolytic re-balancing due to fluid losses from the gastroenteritis and subsequent dehydration.

Certain infections and medications cause characteristic skin lesions, which are the result of hypersensitivity reactions to these agents. A skin rash characterized by the eruption of macules, papules, and target-like circular lesions is referred to as erythema multiforme. The target or iris lesions appear rounded with a red centre surrounded by a pale ring, which in turn is surrounded by a dark red outer ring. These are acute and self-limiting with a propensity for distal extremities. The most common infectious cause is the infection with herpes simplex virus 1 and 2 to a lesser extent. Other notable infectious causes of erythema multiforme include Mycoplasma pneumoniae, cytomegalovirus, HIV, hepatitis c virus, varicella zoster virus, adenovirus, and some fungal infections. Norovirus infection has not been implicated in the aetiology of erythema multiforme.

Sepsis is a medical emergency that describes the body’s systemic immunological response to an infectious process that can lead to end-stage organ dysfunction and death. The fever, alongside the clinical presentation, make sepsis the likely diagnosis. A temperature >38 degrees in an infant <3months of age warrants investigation.

This clinical presentation is highly suggestive of choking. According to the BLS algorithm, the next step in managing a case of choking in a conscious child with an ineffective cough is five back blows.

Other options:
– Adrenaline intramuscularly: The history is similar to anaphylaxis, but the absence of a rash or oedema and the acute onset make choking more likely in this situation. Thus, adrenaline will not be of use in this patient.
– CPR at a ratio of 15:2: Since the child is conscious, it is not advised. If the child were unconscious, you would commence basic life support.
– Five abdominal thrusts: In the given scenario, the child is an infant. Abdominal thrusts are avoided in infants due to the risk of intra-abdominal injury.

Fanconi anaemia, a rare autosomal recessive condition, presents with congenital abnormalities and defective hemopoiesis. Clinical signs include pallor and bruising. Hypoplasia of the thumbs and radial hypoplasia are two of the most common congenital abnormalities. Conductive deafness is also common. Those with Fanconi anaemia have a higher risk for developing acute myeloid leukaemia.

The patient is most likely to have Bulimia nervosa. A young girl with a low body mass contributes to the low urea. Hypokalaemia and hyponatraemia are due to vomiting. Her urine sodium is also low.
– In Addison’s diseases, there are low levels of sodium and high levels of potassium in the blood. In acute adrenal crisis: The most consistent finding is elevated blood urea nitrogen (BUN) and creatinine. Urinary and sweat sodium also may be elevated.
– In Syndrome of Inappropriate Antidiuretic Hormone Secretion (SIADH) there is hyponatremia with corresponding hypo-osmolality, continued renal excretion of sodium, urine less than maximally dilute and absence of clinical evidence of volume depletion.

Individuals with Marfan syndrome are usually tall and slender, have elongated fingers and toes (arachnodactyly), loose joints, and have an arm span that exceeds their body height. Other common features include a long and narrow face, crowded teeth, an abnormal curvature of the spine (scoliosis or kyphosis), stretch marks (striae) not related to weight gain or loss, and either a sunken chest (pectus excavatum) or a protruding chest (pectus carinatum). Some individuals develop an abnormal accumulation of air in the chest cavity that can result in the collapse of a lung (spontaneous pneumothorax). A membrane called the dura, which surrounds the brain and spinal cord, can be abnormally enlarged (dural ectasia) in people with Marfan syndrome. Dural ectasia can cause pain in the back, abdomen, legs, or head. Most individuals with Marfan syndrome have some degree of near-sightedness (myopia). Clouding of the lens (cataract) may occur in mid-adulthood, and increased pressure within the eye (glaucoma) occurs more frequently in people with Marfan syndrome than in those without the condition.

Henoch-Schonlein purpura (HSP) rashes are commonly found on the legs, feet, and buttocks while Immune thrombocytopenia (ITP) rashes manifest predominantly on the lower legs. HSP happens following a sore throat while ITP usually happens following an URTI or Flu. HSP is an inflammation of a blood vessel (vasculitis) while ITP is immune mediated insufficiency of platelets.

Fine motor development involves greater use of the hands to perform more precise tasks. By 6 -12 months children should be able to reach for small objects and pass an object from one hand to the other. From 1 -2 years they can perform more complex tasks such a building a tower of blocks, feeding themselves, and turning knobs. In terms of pencil skills, they should be able to imitate scribbles and then spontaneously scribble. By the age of 2 years they can draw a line, and by three they can draw a circle. From the age of 3.5 they can draw a cross, 4.5 – a square, 5 – a triangle, and 6 a diamond.

The diagnosis of scabies can often be made clinically in patients with a pruritic rash and characteristic linear burrows. Definitive testing relies on the identification of mites or their eggs, eggshell fragments, or scybala. This is best undertaken by placing a drop of mineral oil directly over the burrow on the skin and then superficially scraping longitudinally and laterally across the skin with a scalpel blade. (Avoid causing bleeding.) Scraping 15 or more burrows often produces only 1 or 2 eggs or mites, except in a case of crusted scabies, in which many mites will be present.
The sample is placed on a microscope slide and examined under low and high power. Potassium hydroxide should not be used, since it can dissolve mite pellets. Failure to find mites is common and does not rule out the diagnosis of scabies.

Based on the clinical scenario, the most probable diagnosis is Wilson’s disease. Elevated serum ceruloplasmin levels can confirm the diagnosis.

Serum ceruloplasmin
Wilson’s disease causes reduced binding of copper to ceruloplasmin, which is the body’s primary copper carrying protein. As a result, copper cannot be excreted into the bile. Copper, therefore, builds up in the liver, causing toxicity and is secreted into the bloodstream unbound to ceruloplasmin. This free copper is deposited around the body, especially the brain, eyes and kidneys. The genetic defect means that ceruloplasmin is not released into the bloodstream; therefore, ceruloplasmin is low in Wilson’s disease.

Other options:
– Microscopic evaluation of the hair is performed in Menke’s disease, which is a disease of copper absorption leading to copper deficiency. This causes kinky hair, failure to thrive and neurological symptoms (such as hypotonia).
– Magnetic resonance imaging (MRI) scan of the brain: An MRI brain may show features of Wilson’s disease (especially in the basal ganglia), but it is not diagnostic.
– Serum ferritin: Serum ferritin becomes high in haemochromatosis. This classically causes cirrhosis, bronzing of the skin, cardiomyopathy and diabetes.
– Ultrasound scan of the abdomen: While it is useful in any case of hepatomegaly; it is not going to provide the diagnosis in this case.

Lead can be found in material used for mining, leaded paints and gasoline, glassware, toys, and even cosmetics. Lead poisoning is rare nowadays as the use of lead has been banned from many products. Lead is toxic and in certain concentrations can cause irreversible damage. Children are especially vulnerable as they absorb 4 times as much ingested lead as adults. The typical features of lead poisoning include developmental delay and behavioural disorders, microcytic anaemia, constipation and vomiting. Pulmonary fibrosis, Osteomalacia and cardiomyopathy are not known features of lead poisoning.

Synchronized IMV (SIMV) with pressure support, used in the alert infant. SIMV guarantees a minimum minute volume while allowing the patient to trigger spontaneous
breaths at a rate and volume determined by the patient. Extra breaths are boosted with pressure support. Tidal Volume (Vt) is normally approximately 6-10 mL/kg and 4-6 ml/kg in the preterm.
Respiratory rate (RR) is usually 30-60 BPM. Tidal volume and respiratory rate are related
to respiratory minute volume as follows: Vm(mL/min) = Vt x RR .This baby is overventilated with a low CO2. Tidal volumes should generally be targeted at 4-6 ml/kg and this baby is being targeted at 9 ml/kg which exposes the baby to damage to the distal airways from this ventilation which can lead to bronchopulmonary dysplasia.

The diagnosis of a post-splenectomy/hyposplenism blood picture can be made reliably by identifying Howell Jolly bodies in routine Wright-Giemsa stained blood and target cells. These are round basophilic bodies in red blood cells that represent residual nuclear material from marrow nucleated red cell precursors that are usually culled out by the spleen.
These do not occur in individuals with normally functioning splenic tissue and their presence indicates either 1) an asplenic state or 2) hypofunctioning splenic tissue as might be seen in a patient with late-stage sickle cell anaemia. Their presence in an individual with splenomegaly leads to a narrow differential diagnosis and their absence in a splenectomised individual indicates accessory splenic Heinz bodies and poikilocytosis typically increase in a splenectomised individual and care must be taken not to overdiagnose haemolysis in such an individual.

Advanced paternal age is associated with poor quality sperm leading to a reduction in overall fertility along with an increase in the occurrence of various medical disorders in the fetus. Advanced paternal age has been implicated as a risk factor for diseases like retinoblastoma, Marfan’s syndrome, neurofibromatosis, achondroplasia, autism spectrum disorders, schizophrenia, and acute lymphoblastic leukaemia. Down’s syndrome is mostly considered a consequence of advanced maternal age, but advanced paternal age has also been implicated as a risk factor. Turner syndrome is not found to be caused by advanced paternal age.

The presenting features and the surgical site provided in the clinical scenario are highly suggestive of ipsilateral hypoglossal nerve injury.

Note:
Three cranial nerves may be injured during submandibular gland excision.
– Marginal mandibular branch of the facial nerve
– Lingual nerve
– Hypoglossal nerve

Hypoglossal nerve damage may result in the paralysis of the ipsilateral aspect of the tongue. The nerve itself lies deep to the capsule surrounding the gland and should not be injured during an intracapsular dissection.
The lingual nerve is probably at higher risk of injury. However, the effects of lingual nerve injury are predominantly sensory rather than motor.
Thus, the most appropriate answer is the hypoglossal nerve.

Food poisoning is defined as an illness caused by the consumption of food or water contaminated with bacteria and/or their toxins, or with parasites, viruses, or chemicals. The most common pathogens are Norovirus, Escherichia coli, Salmonella, Clostridium perfringens, Campylobacter, and Staphylococcus aureus.

The following are some of the salient features of food poisoning:
Acute diarrhoea in food poisoning usually lasts less than 2 weeks. Diarrhoea lasting 2-4 weeks is classified as persistent. Chronic diarrhoea is defined by duration of more than 4 weeks.
The presence of fever suggests an invasive disease. However, sometimes fever and diarrhoea may result from infection outside the GI tract, as in malaria.
A stool with blood or mucus indicates invasion of the intestinal or colonic mucosa.
Reactive arthritis can be seen with Salmonella, Shigella, Campylobacter, and Yersinia infections.
A profuse rice-water stool suggests cholera or a similar process.
Abdominal pain is most severe in inflammatory processes. Painful abdominal cramps suggest underlying electrolyte loss, as in severe cholera.
A history of bloating should raise the suspicion of giardiasis.
Yersinia enterocolitis may mimic the symptoms of appendicitis.
Proctitis syndrome, seen with shigellosis, is characterized by frequent painful bowel movements containing blood, pus, and mucus. Tenesmus and rectal discomfort are prominent features.
Consumption of undercooked meat/poultry is suspicious for Salmonella, Campylobacter, Shiga toxin E coli, and C perfringens.
Consumption of raw seafood is suspicious for Norwalk-like virus, Vibrioorganism, or hepatitis A.
Consumption of homemade canned foods is associated with C botulinum.
Consumption of unpasteurized soft cheeses is associated with Listeria, Salmonella, Campylobacter, Shiga toxin E coli, and Yersinia.
Consumption of deli meats notoriously is responsible for listeriosis.
Consumption of unpasteurized milk or juice is suspicious for Campylobacter, Salmonella, Shiga toxin E coli, and Yersinia.
Salmonella has been associated with consumption of raw eggs.

Alpha-fetoprotein (AFP) is a plasma protein produced by the embryonic yolk sac and the fetal liver. AFP levels in serum, amniotic fluid, and urine functions as a screening test for congenital disabilities, chromosomal abnormalities, as well as some other adult occurring tumours and pathologies.
Pregnant maternal serum AFP levels are elevated in:
– Neural tube defects (e.g., spina bifida, anencephaly)
– Omphalocele
– Gastroschisis
– posterior urethral valves
– nephrosis
– GI obstruction
– teratomas

Prepubertal atrophic vaginitis is due to a lack of vaginal oestrogen. The pathophysiology behind prepubertal atrophic vaginitis:
1.The proximity of the vagina to the anus
2.Lack of oestrogen – leads to thinning of the vaginal mucosa
3.Lack of pubic hair to protect the area
4.Lack of labial fat pads

Ipecac, or syrup of ipecac (SOI), is a medication once used to induce vomiting. Its medical use has virtually vanished, and it is no longer recommended for routine use in toxic ingestion. The abuse of SOI as a purgative in eating disorders, however, is increasing.
Ipecac has a high safety profile. Common side effects include prolonged vomiting (greater than 1 hour), lethargy, somnolence, diarrhoea, fever, irritability. More severe complications can consist of aspiration pneumonia, Mallory-Weiss tears, pneumomediastinum, and gastric rupture.
The abuse of syrup of ipecac by patients with major eating disorders have been shown to have toxic effects on the skeletal and cardiac muscle.

The child has experienced the Somogyi phenomenon.
It is a phenomenon where there’s a morning rise in blood sugar. Often it occurs as posthypoglycemic hyperglycaemia and follows nocturnal hypoglycaemia. The mechanism is the production of counter-regulatory hormones like glucagon, cortisol and adrenaline, which increase glucose.
She can be managed by reducing her evening insulin dosage and increasing complex carbohydrates for supper (evening meal).

Type I diabetes mellitus:
It is a chronic illness that is characterised by the inability to produce insulin. It is caused by autoimmune destruction of the beta cells in the pancreas and often presents with ketoacidosis.
The patient can present with symptoms suggestive of polyuria, polydipsia, and weight loss. There can be periods of islet cell regeneration in these patients, which leads to a ‘honeymoon period’ of remission.
Symptoms occur when there is < 20% of islet cell activity left.
Insulin therapy is required in almost all children with type 1 diabetes.
Most children require multiple insulin injections throughout the day via subcutaneous insulin pumps.
Target HbA1c in these patients is 48 mmol/mol according to the updated NICE guidelines.

Cystic fibrosis has an autosomal recessive pattern of inheritance, meaning that a person might be a carrier of the disease without developing it. If the unaffected partner is a carrier, then there is a 50% chance of inheritance and another 50% chance of having a child who is a carrier. However, if the partner is not a carrier, the offspring will not develop the disease but the possibility of being a carrier raises up to 100%.

Among the options provided, bradycardia is a feature of raised intracranial pressure.

The features of raised intracranial pressure include relative bradycardia and hypertension, altered consciousness, focal neurology and seizures.

All other options are signs of shock but not raised intracranial pressure.

Hirschsprung’s disease is characterized by congenital absence of the autonomic plexus (Meissner’s and Auerbach’s plexus) in the intestinal wall. Usually limited to the distal colon, it can occasionally involve the entire colon or even the small bowel. There is abnormal or absent peristalsis in the affected segment, resulting in continuous spasm of smooth muscle and partial/complete obstruction. This causes accumulation of intestinal contents and dilatation of proximal segment. Skip lesions are highly uncommon. This disease is seen early in life with 15% patients presenting in first month, 60% by 1 year of age and 85% by the age of 4 years. Symptoms include severe and complete constipation, abdominal distension and vomiting. Patients with involvement of ultra-short segments might have mild constipation with intervening diarrhoea. In older children, symptoms include failure to thrive, anorexia, and lack of an urge to defecate. On examination, an empty rectum is revealed with stool palpable high up in the colon. If not diagnosed in time, it can lead to Hirschsprung’s enterocolitis (toxic megacolon), which can be fulminant and lead to death. Diagnosis involves a barium enema or a rectal suction biopsy. Barium enema shows a transition in diameter between the dilated, normal colon proximal to the narrowed, affected distal segment. It is to be noted that barium enema should be done without prior preparation, which can dilate the abnormal segment, leading to a false-negative result. A 24-hour post-evacuation film can be obtained in the neonatal period -if the colon is still filled with barium, there is a high likelihood of Hirschsprung’s disease. Full-thickness rectal biopsy is diagnostic by showing the absence of ganglion cells. Acetylcholinesterase staining can be done to highlight the enlarged nerve trunks. Abnormal innervation can also be demonstrated by rectal manometry.

The patient’s sugar levels typically show the Dawn phenomenon.

Dawn phenomenon:
This is an early morning rise in blood glucose levels secondary to a rise in hormones that increase blood glucose levels. The question suggests that he is undergoing a pubertal growth spurt, suggesting that an increase in these hormones is what has led to the higher morning glucose levels.

Other options:
– Inactivity at night-time: It is expected, and insulin dose should be adequate despite inactivity during the night.
– Inadequate bedtime insulin: It is possible that this is a contributing factor. However, inadequate background insulin is also likely to result in high blood glucose in the day, which the question does not suggest.
– Somogyi effect: There are no features suggestive of nocturnal hypoglycaemia that can cause the Somogyi effect.
– Nocturnal glycogenesis: Glycogenesis would result in hypoglycaemia, not hyperglycaemia.

Among the given options, psoriasis is not associated with hypertrichosis.

The causes of hypertrichosis include:
– Drugs: minoxidil, ciclosporin, and diazoxide.
– Congenital hypertrichosis lanuginosa and congenital hypertrichosis terminalis.
– Porphyria cutanea tarda
– Anorexia nervosa

Breast milk jaundice is associated with breast-feeding. It typically occurs one week after birth and can sometimes last up to 12 weeks, but it rarely causes complications in healthy, breast-fed infants. The exact cause of breast milk jaundice isn’t known. However, it may be linked to a substance in the breast milk that prevents certain proteins in the infant’s liver from breaking down bilirubin. The condition may also run in families. Breast milk jaundice is rare, affecting less than 3 percent of infants. When it does occur, it usually doesn’t cause any problems and eventually goes away on its own. It is safe to continue breast-feeding.

The child has nephrotic syndrome which is most commonly caused by minimal change nephropathy in this age group. The condition presents with fusion of foot processes of the glomerular epithelial cells under the microscope.

The commonest time for bacterial meningitis is in the 1st month of life and group B Streptococcus is the commonest organism. The anterior fontanelle is full, but does not bulge with normal flexion. Neurological manifestations include seizures, irritability, poor tone, lethargy and tremors, however no findings of sensorineural deafness have been noted. One of the risk factors for introduction of meningeal infection is Meningomyelocele.

Identify babies as being more likely to develop significant hyperbilirubinemia if they have any of the following factors:
– gestational age under 38 weeks
– a previous sibling with neonatal jaundice requiring phototherapy
– mother’s intention to breastfeed exclusively
– visible jaundice in the first 24 hours of life.

Deaths by age group:
60% <1 year - due mainly to congenital, neonatal, and infection related problems.
10% 1-4 years – due to accident (15%), cancer (15%), or congenital problems (14%)
18% 15-19 years – accidental (42%) accidents reflect increased risk taking

Infective endocarditis occurs when microorganisms enter the bloodstream and infect damaged endocardium or endothelial tissue. It most commonly involves the heart valves (either native or prosthetic), but it may also occur at the site of a septal defect, on the chordae tendineae, or on the mural endocardium. The prototypic lesion is at the site of the infection; the vegetation is a mass of platelets, fibrin, microcolonies of microorganisms, and scant inflammatory cells. Endocarditis is classified as acute or subacute, which applies to the features and the progression of infection until diagnosis.

The oral cavity, the skin, and the upper respiratory tract are the primary portals for Streptococcus viridans; Staphylococcus species; and Haemophilus aphrophilus, Aggregatibacter (formerly Actinobacillus) actinomycetemcomitans, Cardiobacterium hominis, Eikenella corrodens, and Kingella kingae (HACEK) organisms. Streptococcal and staphylococcal organisms are responsible for more than 80% of cases of bacterial IE.

Streptococcus viridans accounts for approximately 50-60% of cases of subacute disease.

While S aureus infection is the most common cause of IE, including Prosthetic valve endocarditis, acute IE, and IV Drug Abusers IE

Tinea corporis is a type of dermatophytosis, caused by Trichophyton or Microsporum. The disease is highly contagious and rapidly spreads to all the areas of the body. It produces an itchy rash with a central area of clearance surrounded by raised scaly borders. Diagnosis can be made by skin examination. All other mentioned conditions do not affect the palms and soles.

The ductus arteriosus is normally patent during fetal life; it is an important structure in fetal development as it contributes to the flow of blood to the rest of the fetal organs and structure. From the 6th week of fetal life onwards, the ductus is responsible for most of the right ventricular outflow, and it contributes to 60% of the total cardiac output throughout fetal life. Only about 5-10% of its outflow passes through the lungs.
This patency is promoted by continual production of prostaglandin E2 (PGE2) by the ductus.
In the foetus, the oxygen tension is relatively low, because the pulmonary system is non-functional. Coupled with high levels of circulating prostaglandins, this acts to keep the ductus open. The high levels of prostaglandins result from the little amount of pulmonary circulation and the high levels of production in the placenta.
At birth, the placenta is removed, eliminating a major source of prostaglandin production, and the lungs expand, activating the organ in which most prostaglandins are metabolized. In addition, with the onset of normal respiration, oxygen tension in the blood markedly increases. Pulmonary vascular resistance decreases with this activity.
Normally, functional closure of the ductus arteriosus occurs by about 15 hours of life in healthy infants born at term. This occurs by abrupt contraction of the muscular wall of the ductus arteriosus, which is associated with increases in the partial pressure of oxygen (PO2) coincident with the first breath. A preferential shift of blood flow occurs; the blood moves away from the ductus and directly from the right ventricle into the lungs. Until functional closure is complete and PVR is lower than SVR, some residual left-to-right flow occurs from the aorta through the ductus and into the pulmonary arteries
A balance of factors that cause relaxation and contraction determine the vascular tone of the ductus. Major factors causing relaxation are the high prostaglandin levels, hypoxemia, and nitric oxide production in the ductus. Factors resulting in contraction include decreased prostaglandin levels, increased PO2, increased endothelin-1, norepinephrine, acetylcholine, bradykinin, and decreased PGE receptors. Increased prostaglandin sensitivity, in conjunction with pulmonary immaturity leading to hypoxia, contributes to the increased frequency of patent ductus arteriosus (PDA) in premature neonates.
Although functional closure usually occurs in the first few hours of life, true anatomic closure, in which the ductus loses the ability to reopen, may take several weeks. The second stage of closure related to the fibrous proliferation of the intima is complete in 2-3 weeks.

Because the initial chest X-ray returned an anomaly, a skeletal survey is the best option. Also known as a bone survey, the skeletal survey is a series of X-rays that will help analyse the structure of all the bones in the body. Because the child is not very active yet presents with bruising, the child protection register should also be checked but only after a skeletal survey has been conducted.

The most probable diagnosis in this patient would be Friedreich’s ataxia.

Friedreich’s ataxia is also called spinocerebellar degeneration. It is an autosomal recessive condition. The onset of ataxia is around ten years of age. Intelligence is preserved.
Cerebellar impairment, distal muscle weakness, pes cavus, hammer-toes and progressive kyphoscoliosis are present. Deep tendon reflexes are absent, particularly the ankle jerk. Loss of vibration and position sense occurs because of degeneration of the posterior columns. Hypertrophic cardiomyopathy can occur with progression to congestive cardiac failure.

Other options:
– Ataxia Telangiectasia: ataxia develops earlier, around two years of age, with loss of ambulation by adolescence. Nystagmus is present. Telangiectasia becomes evident by mid-childhood and is found on bulbar conjunctiva, over the bridge of the nose and on the ears. These children have an increased risk of developing lymphoreticular malignancies.

– Abetalipoproteinemia: begins in childhood with steatorrhea and failure to thrive. Neurological symptoms appear in late childhood. These include ataxia, retinitis pigmentosa, peripheral neuritis, abnormalities in position and vibration sense, muscle weakness and mental retardation. Vitamin E is undetectable in serum in these patients.

– Acute cerebellar ataxia: occurs in children of 1-3 years of age and is a diagnosis of exclusion. It often follows acute viral infections like varicella, coxsackievirus or echovirus by 2-3 weeks. It is an autoimmune response to a viral agent affecting the cerebellum. Prognosis is excellent with complete recovery present. Very small numbers have long term sequelae like ataxia, incoordination, speech disorder and behavioural problems.

– Acute labyrinthitis: It is difficult to differentiate acute labyrinthitis from acute cerebellar ataxia in a toddler. It is associated with middle ear infections, vertigo and vomiting.

Among the given options, Di-George syndrome is not associated with adrenal gland disorders.

Di-George syndrome is characterised by distinct facial features (micrognathia, cleft palate, short philtrum, and low-set ears), hypocalcaemia, mental retardation, cardiac defects (especially tetralogy of Fallot), and immune deficiencies.

A useful memory aid is CATCH-22:

– Cardiac defects
– Abnormal facial features
– Thymic aplasia/hypoplasia
– Cleft palate
– Hypocalcaemia/Hypoparathyroidism
– 22 – Due to 22q11 deletion

Other options:
– Addison’s disease is a result of adrenal hypofunction and may present with collapse secondary to a salt-losing crisis.
– Congenital adrenal hyperplasia: CAH is caused by the deficiency of an enzyme (classically 21-hydroxylase deficiency) in the biosynthetic pathway in the adrenal cortex, leading to insufficient production of cortisol and aldosterone, and a build-up of 17-hydroxyprogesterone.
– Cushing’s syndrome is a syndrome of cortisol excess. An adrenal tumour is a primary cause.
– Pheochromocytoma is a catecholamine releasing tumour of the adrenal gland/s.

Among the options provided, zidovudine causes lipoatrophy as a side effect.

Zidovudine: Although both hypertrophy and atrophy are described related to HIV medications, nucleoside reverse transcriptase inhibitor (NRTIs) such as zidovudine and stavudine are closely associated with fat loss.

Other options:
– Enfuvirtide is an HIV-fusion inhibitor. Lipoatrophy is not commonly associated with this drug.
– Efavirenz is an NNRTI, which is not associated with lipoatrophy. Common side effects include neuropsychiatric effects, rash and nausea.
– Ganciclovir is not an anti-HIV medication and is used for cytomegalovirus (CMV) infections.
– Raltegravir is an integrase inhibitor and is associated with fat gain.

Ewing’s sarcoma is formed by small, round, blue cells, and is common in children. The usually develop in limbs, and clinical findings include pain and inflammation, with lytic destruction showing up on X-rays.

Breath-holding spells are usually caused by either a change in the child’s breathing or a slowing of the heart rate. In some children, breath-holding spells may be related to iron deficiency anaemia, a condition in which the body doesn’t produce a normal number of red blood cells.
Conclusion: Not only Iron deficiency anaemia but also iron deficiency alone without anaemia is associated with a risk of high-frequency cyanotic breath holding spells. Iron therapy results in reduction in spells’ frequency which was correlated with increasing ferritin and iron levels.

Histology of psoriasis is characterised by parakeratosis (cell nuclei within stratum corneum) and thickened projections of the prickle cell layer of keratinocytes (psoriasiform hyperplasia or acanthosis).

Orthokeratosis refers to the formation of a pathological anuclear keratin layer in the skin.

The stratum granulosum is actually thinned or absent in patients with psoriasis.

The boy suffers from balanitis xerotica obliterans (BXO) which is surgically treated with circumcision and urethral calibration. In fact, the condition is the only true medical indication for circumcision.

Answer: Surveillance annual flexible sigmoidoscopy from age 13 years until age 30 years.

Familial adenomatous polyposis (FAP) is the most common adenomatous polyposis syndrome. It is an autosomal dominant inherited disorder characterized by the early onset of hundreds to thousands of adenomatous polyps throughout the colon. If left untreated, all patients with this syndrome will develop colon cancer by age 35-40 years. In addition, an increased risk exists for the development of other malignancies.
Most patients with FAP are asymptomatic until they develop cancer. As a result, diagnosing presymptomatic patients is essential.

Of patients with FAP, 75%-80% have a family history of polyps and/or colorectal cancer at age 40 years or younger.

Nonspecific symptoms, such as unexplained rectal bleeding (haematochezia), diarrhoea, or abdominal pain, in young patients may be suggestive of FAP.

In a minority of FAP families a mutation cannot be identified and so annual flexible sigmoidoscopy should be offered to at risk family members from age 13-15 years until age 30, and at three to five year intervals thereafter until age 60 years.

The baby may have hydrocephalus and no surgery can be done until it is excluded.
Cranial sonography is an important part of neonatal care in general, and high-risk and unstable premature infants, in particular. It allows rapid evaluation of infants in the intensive care units without the need for sedation and with virtually no risk. Expectedly, sonography represents an ideal imaging modality in neonates due to its portability, lower cost, speed, and lack of ionizing radiations. Although there are numerous indications for cranial sonography, it appears to be most useful for detection and follow-up of intracranial haemorrhage, hydrocephalus, and periventricular leukomalacia (PVL).

In nephrotic syndrome, one of the main pathological processes is the excretion of protein by the kidneys. The resultant signs including; low serum albumin, oedema and hypovolemia all occur as a result of fluid escaping into the extracellular space due to a low oncotic pressure. While an albumin infusion may help to increase oncotic pressure, its indications specifically include hypovolemia, which is assessed by a capillary refill time more than 5 seconds, an elevated haematocrit, or severe symptomatic oedema, such as scrotal oedema. Hypertension not an indication for an infusion, and most patients needing an albumin infusion have oliguria.

The clinical presentation and leucocytes on the urine dipstick is suggestive of a urinary tract infection. To confirm the diagnosis, urine should be sent for culture and sensitivity.

One of the most common congenital viral infections is cytomegalovirus infection. The infection is even commoner than the other widely known diseases like down’s syndrome and spina bifida. It is caused by herpesvirus type 5 and is diagnosed using PCR of saliva. The clinical features include failure to thrive, intellectual disability, epilepsy, and microcephaly. The most common clinical complication is sensorineural deafness. The drug of choice for the treatment of neonatal CMV infection is ganciclovir, an anti-viral drug that has shown to prevent deafness. Cytomegalic inclusion disease is diagnosed at birth with marked neurological disability, resulting from microcephaly, intracerebral calcifications, and cerebral atrophy.

Capillary haemangiomas (strawberry naevi) are very common benign tumours that may appear in infancy. This particular case requires a close follow-up to monitor the naevus’ size and make sure it doesn’t expand or gets bigger, affecting the baby’s visual field.

It is more common in preterm babies and girls are 3x more commonly affected than boys. It presents at birth in 30%, and is a focal and solitary in 80% of cases, most commonly found on the head and neck (60%), followed by the trunk (25%) and extremities (15%).

Bulimia nervosa is a condition in which a person is involved in binge eating and then purging. This patient has swollen parotid glands. The glands swell in order to increase saliva production so that the saliva lost in the vomiting is compensated. This patient also has thickened calluses on the back of her hand. This is known as Russell’s sign. This occurs because of putting fingers in the mouth again and again to induce the gag reflex and vomit. The knuckles get inflamed in the process after coming in contact with the teeth multiple times.

The next step in the management of this patient is starting a normal saline fluid bolus, following which we should send samples for blood culture, lactate and C-reactive protein. The patient is probably a case of anorexia nervosa (AN).

Note:
Children with AN are at higher risk of developing infections, and this needs to be considered in this case. Patients with AN may not respond in the usual fashion to sepsis as they may not mount a fever in response to infection.
Hypoglycaemia (especially when severe or persistent despite correction) should raise the alarm for an infection as should tachycardia and cool peripheries. Children with severe AN are more likely to be bradycardic. Therefore, a tachycardia should cause the clinician to consider that another process is going on.

Other options:
– Correcting electrolyte abnormalities is, of course, very important. However, while these are awaited, one needs to consider that this patient is septic and managed accordingly. Children with anorexia nervosa (AN) may have a whole host of electrolyte abnormalities, some of which can be treated with oral or nutritional supplementation although sometimes intravenous correction is required.
Electrolytes need to be checked frequently during admission because of the risk of refeeding syndrome, and dietetic input is required to advise on appropriate starting intake.
– While maintenance fluids like dextrose are likely to be needed in this case, consideration needs to be given to the underlying cause of the hypoglycaemia. As the sugar has come up following a glucose bolus, a 10% dextrose infusion would be excessive.
– An ECG should form a part of any assessment of a child with AN. In this case, it would not be the first thing; however, as part of the acute management of this child, cardiac monitoring should be commenced. One would usually expect a child with AN to be bradycardic so a tachycardia should raise suspicion that another process is going on.
– Dietary input will be vital for this child’s ongoing management. However, their acute issues take precedence in this case. Nevertheless, a dietician should be informed and involved from an early stage.

The first brachial arch (mandibular) gives rise to the mandibular and maxillary processes. Muscles and bones of this process originate within the arch’s mesoderm. The first arch cartilage (Meckel’s) ossifies to form the incus and malleus of the middle ear. Its perichondrium gives rise to he sphenomandibular ligament and through intermembraneous ossification after the mandible forms, the rest of the cartilage disappears. Muscles of the first arch include: mylohyoid, tensor tympany and palati, temporalis, masseter and lateral pterygoids and the anterior belly of the epigastric. This first arch is supplied by the trigeminal nerve.

Zona fasciculata of the adrenal produces the maximum levels of cortisol in the body.

Functions of cortisol:
– Increases blood pressure: permits normal response to angiotensin II and catecholamines by up-regulating alpha-1 receptors on arterioles.
– Inhibits bone formation: decreases osteoblasts, type 1 collagen and absorption of calcium from the gut, and increases osteoclastic activity.
– Increases insulin resistance.
– Increases gluconeogenesis, lipolysis and proteolysis.
– Inhibits inflammatory and immune responses.
– Maintains function of skeletal and cardiac muscle.

An excess of corticosteroids in the body causes various symptoms that are a part of Cushing’s syndrome.

A ventricular septal defect (VSD) is a common form of congenital heart defects and is characterised by the presence of a hole in the wall that separates the right from the left ventricle. Medium or large defects can cause many complications. One of these complication is Eisenmenger syndrome, characterised by reversal of the shunt (from left-to-right shunt into a right-to-left) ,cyanosis and pulmonary hypertension.

E. coli accounts for the majority of UTI’s in children. If this child responds well to treatment and has no recurrence of his symptoms, then no form of imaging is required, as per NICE advice for children aged 6 months to 3 years. Had the child been less than 6 months of age, then a USS at 6 weeks would be necessary.

Other options:
– Pseudomonas causes atypical UTI. This warrants ultrasonography within the acute illness phase as it may reflect an underlying pathology and DMSA at 4-6 months.
– Recurrent UTI is defined as two or more episodes of pyelonephritis OR 1 pyelonephritis and one cystitis OR 3 or more cystitis. It requires USS at six weeks and DMSA at 4-6 months.
– Septicaemia is a sign of an atypical UTI. This requires USS within the acute illness as it may reflect an underlying pathology and DMSA at 4-6 months.
– Unwell 48hrs post antibiotics is a sign of an atypical UTI. This requires USS within the acute illness as may reflect underlying pathology and DMSA at 4-6 months.

The most appropriate management would be to reassure the parents, as nasolacrimal duct dysfunction in most infants tends to resolve spontaneously.

Note:
Nasolacrimal duct blockage occurs in up to 5% of new-borns. 90% of these babies spontaneously resolve in the first year of life.
They do not require urgent ophthalmological review, as often advice and reassurance for parents suffice for up to the age of 18 months old or so.
A lump can often be seen in the nasolacrimal region following the accumulation of mucous. This does not need to be treated with antibiotics unless there are signs of acute infection.

Other options:
– The child does not require urgent ophthalmology review as there are no signs of severe infection. Watery eyes often lead to mucous production, which is a common non-worrying sign.
– A course of topical antibiotics: Watery eyes often lead to mucous production, which is distinct from pus discharge.
Unnecessary topical antibiotics can cause secondary red eyes as well as give parents false expectations for the resolution of the symptoms and signs.
– A course of topical and oral antibiotics: Watery eyes often lead to mucous production, which is distinct from pus discharge. Unnecessary topical and oral antibiotics can cause secondary red eyes as well as give parents false expectations for the resolution of the symptoms and signs.
– Reassurance is necessary. However, the advice that the child most likely will need a surgical procedure to resolve this is incorrect. Reassurance, but include advice that the child most likely will need a surgical procedure to resolve this is incorrect as 90% of infants that have these symptoms and signs resolve within the first year of life.

Hematopoietic stem cells (HSCs) are a rare population of cells residing in the bone marrow (BM) and continuously replenish all mature blood cells throughout their life span.

This girl most probably has Turner’s syndrome, which is caused by the absence of one set of genes from the short arm of one X chromosome.
Turner syndrome is a lifelong condition and needs lifelong oestrogen replacement therapy. Oestrogen is usually started at age 12-15 years. Treatment can be started with continuous low-dose oestrogens. These can be cycled in a 3-weeks on, 1-week off regimen after 6-18 months; progestin can be added later.

In childhood, growth hormone therapy is standard to prevent short stature as an adult.

Fetal ovarian development seems to be normal in Turner syndrome, with degeneration occurring in most cases around the time of birth so pulsatile GnRH and luteinising hormone would be of no use.