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.

In the first few years of life the developing sensory inputs are important. Hearing is essential for speech and language development and may be delayed when a child cannot hear. Therefore any child with a family history of hereditary deafness should be screened. From about 4-6months babies are able to laugh and babble when excited or unhappy. By the age of 9 months the child should be able to bring together groups of same sound syllables and be able to say one or two words by the 1st birthday. If a child is unable to babble by 10-12 years, it may indicate hearing impairment. By the age of 2 a child should be able to speak in 1 or 2 word phrases and often repeats phrases used by others, known as Echolalia.

Primitive reflexes are central nervous system responses, many of which disappear as a child matures. Retention of these reflexes may point to atypical neurology such as in cerebral palsy or stroke. However, some persist into adulthood. The stepping reflex is present from birth and normally disappears by 6 weeks, while the moro reflex is present from birth to about 4 months. The asymmetrical tonic neck reflex disappears by about 6 months. Reflexes that persist include the head righting reflex which develops at 6 months, and the parachute reflex which develops at 9 months.

Vitamin A is a fat-soluble compound occurring in various forms. The RDA for 0-12 months old babies is 400-600micrograms/day. Most of the vitamin A is stored in the liver, making animal liver an excellent source of vitamin A.
Vitamin A deficiency is characterized by the deposits of keratin in the conjunctiva, known as Bitot’s spots, keratomalacia, night blindness, and anaemia.
Vitamin A toxicity or excess is characterized by hyperkeratosis, hypothyroidism, hypo/hyperpigmentation, etc.
According to WHO guidelines, children under two years of age who develop measles should be given two additional doses of vitamin A supplementation 24 hours apart, which is necessary for preventing eye damage, blindness, and reducing mortality by 50%.

Tanner stage two presents with the following: Downy hair, Breast bud palpable under areola (1st pubertal sign in females).

Stage 1 (prepubertal) – elevation of papilla only – no pubic hair
Stage 2 – breast bud forms – sparse, slightly pigmented hair on labia majora
Stage 3 – Breast begins to become elevated, extends beyond areola borders – hair becomes more coarse and curly
Stage 4 – increased size and elevation. Areola and papilla form secondary mound – adult like, but sparing medial thighs
Stage 5 – final size, areola returns but papilla remains projected – hair extends to medial thighs

HELLP syndrome is a complication of pregnancy characterized by haemolysis, elevated liver enzymes, and a low platelet count. It usually begins during the last three months of pregnancy or shortly after childbirth. HELLP syndrome is a life-threatening condition that can potentially complicate pregnancy. It is named for 3 features of the condition: Haemolysis, Elevated Liver enzyme levels, and Low Platelet levels. It typically occurs in the last 3 months of pregnancy (the third trimester) but can also start soon after delivery. A wide range of non-specific symptoms may be present in women with HELLP syndrome. Symptoms may include fatigue; malaise; fluid retention and excess weight gain; headache; nausea and vomiting; pain in the upper right or middle of the abdomen; blurry vision; and rarely, nosebleed or seizures. The cause of HELLP syndrome is not known, but certain risk factors have been associated with the condition. It is most common in women with preeclampsia or eclampsia. If not diagnosed and treated quickly, HELLP syndrome can lead to serious complications for the mother and baby. The main treatment is to deliver the baby as soon as possible, even if premature, if there is distress of the mother or the baby. Treatment may also include medications needed for the mother or baby, and blood transfusion for severe bleeding problems.

The submandibular glands provide the bulk of salivary secretions contributing close to 70%.

The sublingual glands provide 5% and the remainder from the parotid.

Intussusception is the invagination of one segment of the intestine within a more distal segment. It presents with vomiting, abdominal pain, and a palpable abdominal mass.
Intussusception usually affects infants between 6-18 months old. Boys are affected twice as often as girls

The most probable cause for chronic parotitis in this patient would be HIV infection.

Rationale:
Chronic infectious parotitis is relatively uncommon in children.
While mycobacterial infection can result in chronic parotitis, HIV is a relatively more common cause. The presentation should always prompt an HIV test.

Other options:
– While mumps is the most common cause of acute viral parotitis, the chronic nature of the boy’s presentation rules it out.
– Acute bacterial parotitis is usually unilateral and is warm and tender to touch.

The most probable diagnosis for this patient would be congenital hypertrophic pyloric stenosis.

Congenital Hypertrophic Pyloric Stenosis (CHPS):
Pyloric stenosis should be ruled out in any baby who presents with a long-term history of vomiting and failure to thrive.
Infants typically present with projectile, non-bilious vomiting and are said to be hungry and wanting to feed despite poor weight gain. A blood gas would be helpful in this instance, although the diagnosis can be made more accurately by observing the stenosis during ultrasound.

Many infants have symptoms of gastroesophageal reflux disease, although only a small minority are unable to gain weight adequately. A UTI in infants can present with non-specific symptoms, but they might have a fever and can show poor feeding. Malrotation will present with bilious vomiting.

The definitive surgical management is the Ramsteadt’s pyloromyotomy.

The Glasgow Coma Scale, being inappropriate for use in children (especially below the age of 5) as they are unable to elicit the verbal response as per the adult GCS.
Therefore, GCS for the paediatric age group was modified to Adelaide coma scale (ACS), which is stated as follows:

Best Eye Response (as in adult scale):
Spontaneous – 4
To speech – 3
To pain – 2
No response – 1

Best Verbal Response:
Oriented – 5
Words – 4
Vocal sounds – 3
Cries – 2
No response – 1

Best Motor Response (as in adult scale):
Obeys commands – 5
Localises pain – 4
Flexion to pain – 3
Extension to pain – 2
No response – 1

The described child scores:
Eye response – 1; Verbal response – 3; Motor response – 4
Thus, bringing the total ACS score to 8.

Marfan syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, blood vessels, and heart valves. The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
At least 25 percent of Marfan syndrome cases result from a new mutation in the FBN1 gene. These cases occur in people with no history of the disorder in their family.
The two primary features of Marfan syndrome are vision problems caused by a dislocated lens (ectopia lentis) in one or both eyes and defects in the large blood vessel that distributes blood from the heart to the rest of the body (the aorta).
Associations include:
Tall stature
Learning disability (50%)
Lens subluxation (usually upwards)
Femoral hernia
Hemivertebrae
Cardiac problems (Aortic/mitral regurgitation, aneurysms)
Joint hypermobility
Arachnodactyly

Dandy-Walker syndrome is characterised by symptoms of brain maldevelopment that are seen in this patient. A large cranium indicates hydrocephalus, and the hypotonia indicates poor limb development.

Certain lesions present on x-ray are suggestive of child abuse including rib, humerus and skull fractures. It is the doctors responsibility to follow up on these cases to determine whether domestic abuse has occurred.

Effective treatment can cure gonorrhoea and help prevent long-term complications. CDC recommends a single dose of 250mg of intramuscular ceftriaxone AND 1g of oral azithromycin. It is important to take all of the medication prescribed to cure gonorrhoea.

Intrauterine growth restriction refers to the failure of the fetus to grow in accordance with the weeks of gestation. There are two types of growth restriction, symmetrical and asymmetrical. Causes include various genetic abnormalities, fetal infections, maternal health conditions, etc. Risk factors for the development of IUGR include fetal echogenic bowel, maternal age above 40 years, low PAPP-A levels, maternal smoking or cocaine use, etc. Fetal echogenic bowel implies a brighter than usual fetal intestines on ultrasonography. It is a marker associated with trisomy 21, which is a cause of IUGR.

Infants exposed to maternal HIV and with positive results require immediate management with co-trimoxazole prophylaxis, regardless of their CD4 levels. Antiretroviral treatment is necessary as well but it could wait until further work-up is complete.

A not immunized patient with a clean wound requires an immediate vaccination against diphtheria, tetanus and polio, according to the Green Book of Immunisation against infectious disease. (The Green Book has the latest information on vaccines and vaccination procedures, for vaccine preventable infectious diseases in the UK.)

Retinopathy screening need not be done on an annual basis for a 9-year-old child. Screening for diabetic retinopathy should begin at the age of 12.

Diabetes mellitus is an increasing problem in both developing and developed countries alike. Some of the risk factors include:
Obesity
Family history
Female sex
Asian and African races
Presence of acanthosis nigricans is seen with type 2 but not type 1 diabetes

The diagnosis is mostly incidental or subacute.
The treatment aims are good blood sugar control, maintenance of normal BMI, and reduction of complications. The treatment modality also includes lifestyle modifications and cessation of smoking. Even after all this, diabetic ketoacidosis can still occur.

Management of diabetes mellitus – NICE guidelines (Updated, 2015):
– Standard release metformin should be offered from the moment of diagnosis.
– HBA1c should be measured every three months. The target HBA1c level of 48 mmol/mol (6.5%) or lower is ideal for minimising the risk of long term complications.
– Children should undergo an eye examination by an optician every two years.
– Annual immunisation against influenza and pneumococcal infections are essential.
– There is an increased risk of psychological and psychosocial difficulties if the child with type 1 diabetes is on insulin or oral hypoglycaemic medications. These include anxiety disorder, depression, behavioural and conduct disorders and family conflict.
– Annual monitoring to be done for:
Hypertension starting at diagnosis.
Dyslipidaemia starting at diagnosis.
Screening for microalbuminuria starting at diagnosis.
Diabetic retinopathy from 12 years of age.

Developmental milestones at the age of 2 months are as follows:
Social and Emotional:
– Begins to smile at people
– Can briefly calm herself (may bring hands to mouth and suck on hand)
– Tries to look at the parents
Language/Communication:
– Coos, makes gurgling sounds
– Turns head toward sounds
Cognitive (learning, thinking, problem-solving):
– Pays attention to faces
– Begins to follow things with eyes and recognize people at a distance
– Begins to act bored (cries, fussy) if an activity doesn’t change
Movement/Physical Development:
– Can hold head up and begins to push up when lying on tummy
– Makes smoother movements with arms and legs

Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females.
Affected individuals usually have delayed development of speech and language by age 2. Most males with fragile X syndrome have mild to moderate intellectual disability, while about one-third of affected females are intellectually disabled. Children with fragile X syndrome may also have anxiety and hyperactive behaviour such as fidgeting or impulsive actions. They may have attention deficit disorder (ADD), which includes an impaired ability to maintain attention and difficulty focusing on specific tasks. About one-third of individuals with fragile X syndrome have features of autism spectrum disorder that affect communication and social interaction. Seizures occur in about 15 percent of males and about 5 percent of females with fragile X syndrome.
Most males and about half of females with fragile X syndrome have characteristic physical features that become more apparent with age. These features include a long and narrow face, large ears, a prominent jaw and forehead, unusually flexible fingers, flat feet, and in males, enlarged testicles (macroorchidism) after puberty.

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.

Meconium ileus equivalent (MIE) can be defined as a clinical manifestation in cystic fibrosis (CF) patients caused by acute intestinal obstruction by putty-like faecal material in the cecum or terminal ileum. A broader definition includes a more chronic condition in CF patients with abdominal pain and a coecal mass which may eventually pass spontaneously. The condition occurs only in CF patients with exocrine pancreatic insufficiency (EPI). It has not been seen in other CF patients nor in non-CF patients with EPI. The frequency of these symptoms has been reported as 2.4%-25%.

The treatment should primarily be non-operative. Specific treatment with N-acetylcysteine, administrated orally and/or as an enema is recommended. Enemas with the water soluble contrast medium, meglucamine diatrizoate (Gastrografin), provide an alternative form for treatment and can also serve diagnostic purposes. It is important that the physician is familiar with this disease entity and the appropriate treatment with the above mentioned drugs. Non-operative treatment is often effective, and dangerous complications following surgery can thus be avoided.

Based on the presentation, the developmental age of the child is 8 months.

The primitive reflexes are indicators of functional integrity and maturity. The majority of reflexes do not persist beyond 6 months of age.

There are 13 reflexes of importance, including:
– Moro reflex
– Startle reflex
– Rooting reflex
– Sucking reflex
– Grasp reflex
– Voluntary palmar grasp reflex
– Voluntary reach reflex
– Stepping reflex
– Asymmetrical tonic neck reflex (ATNR)
– Parachute reflex
– Plantar reflex
– Tendon reflex
– Clonus

It is interesting to note that gastrocolic reflex is not a primitive reflex.

Ninety-five per cent of reflexes will have disappeared by the ages shown below:
– 6 weeks: Stepping
– 3-4 months: Palmar grasp and Moro
– 6 months: Sucking, rooting, and asymmetrical tonic neck reflex (ATNR)

Kawasaki disease is an acute febrile illness of early childhood characterized by vasculitis of the medium-sized arteries. Diagnostic criteria include fever of at least 5 days duration along with 4 or 5 of the principal clinical features – extremity changes, polymorphous rash, oropharyngeal changes, conjunctival injection and unilateral nonpurulent cervical lymphadenopathy.

Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder affecting branched-chain amino acids. It is one type of organic academia. The condition gets its name from the distinctive sweet odour of affected infants’ urine, particularly prior to diagnosis, and during times of acute illness. MSUD, also known as branched-chain ketoaciduria, is an aminoacidopathy due to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine.

NICE guidelines suggest that at the premonitory stage (pre-hospital) the patient should receive Diazepam 10−20 mg given rectally, or midazolam 10 mg given buccally. If seizures continue, the patient should receive lorazepam IV.

In pyloric stenosis a new-born baby presents with a history of vomiting, constipation and deranged electrolytes. Excessive vomiting leads to hypokalaemia. Difficulty in food passing from the stomach to the small intestine causes constipation. Hypokalaemia also causes constipation. None of the other disorders mentioned present with the hypokalaemia, vomiting and constipation triad in a new-born.

A minority of affected individuals may experience severe liver failure. This happens most frequently in people with Wilson’s disease during adolescence and more commonly in women. These individuals may rapidly develop signs and symptoms of liver disease, often associated with anaemia due to breakdown of red blood cells (haemolysis) and mental confusion. In some patients, liver disease does not reveal itself, and the patient develops neurologic (brain-related) symptoms. Common neurological symptoms of Wilson disease that may appear and progress with time include tremor, involuntary movements, difficulty swallowing (dysphagia), difficulty speaking and poor articulation (dysarthria), lack of coordination, spasticity, dystonic postures, and muscle rigidity. Almost all affected individuals with the neurological symptoms of Wilson’s disease have Kayser-Fleischer rings in their eyes that can be identified by a slit lamp examination.

A monochorionic diamniotic (MCDA) twin pregnancy is a subtype of monozygotic twin pregnancy. An MCDA pregnancy results from a separation of a single zygote at ,4-8 days (blastocyst) following formation. These fetuses share a single chorionic sac but have two amniotic sacs and two yolk sacs.
It accounts for the vast majority (70-75%) of monozygotic twin pregnancies although only ,30% of all twin pregnancies. The estimated incidence is at ,1:400 pregnancies
The layman term is that the twins are identical – in reality, they are phenotypically similar, and of course of the same gender.

Biliary atresia is a rare condition that usually becomes symptomatic 2 to 8 weeks after birth. It can be congenital or acquired. Typical symptoms include jaundice, weight loss, dark urine and pale stools.

To prevent mother to child transmission in the case of an HIV infected mother, guidelines have been put in place in the that guide practices. During pregnancy the risk of intrauterine transmission is quite low, as is the risk of transmission during vaginal delivery. As a result the number of women that choose to have caesarean sections have fallen, with vaginal births increasing by 40%. One factor that can however increase the risk of mother to child HIV transmission is concurrent Hepatitis C infection which double the risk of vertical transmission.

Hyperkinetic Gait is seen with certain basal ganglia disorders including Sydenham’s chorea, Huntington’s Disease and other forms of chorea, athetosis or dystonia. The patient will display irregular, jerky, involuntary movements in all extremities. Walking may accentuate their baseline movement disorder.

Germinal matrix/intraventricular haemorrhage (GM/IVH) is a complication of premature delivery that can result in life-long medical and developmental consequences. Although GM/IVH can occur in term infants, haemorrhage in this group of infants remains distinct from periventricular haemorrhage (PVH)/IVH of the preterm infant. Several acquired lesions of the central nervous system (CNS) specifically affect infants born prematurely and result in long-term disability, including GM/IVH, periventricular white matter injury (e.g., cystic periventricular leukomalacia [CPVL], periventricular haemorrhagic infarction [PVHI]), haemorrhage, and diffuse injury to the developing brain.
The physical examination is usually negative in germinal matrix/intraventricular haemorrhage (GM/IVH). Occasionally, severe GM/IVH may present with nonspecific systemic findings suggestive of cardiovascular collapse.

One subgroup of infants with GM/IVH presents with the following:
– A sudden unexplained drop in haematocrit levels
– Possible physical findings related to anaemia (e.g., pallor, poor perfusion) or haemorrhagic shock

Another subgroup of infants with GM/IVH presents with extreme signs, including the following:
– A sudden and significant clinical deterioration associated with anaemia, metabolic acidosis, glucose instability, respiratory acidosis, apnoea, hypotonia, and stupor is present.

Physical findings related to these signs include poor perfusion, pallor or an ashen colour, irregularities of respiratory pattern, signs of respiratory distress including retractions and tachypnoea, hypotonia, and altered mental status (e.g., decreased responsiveness, coma).

Additional neurologic signs, such as fullness of the fontanelles, seizures, and posturing, may also be observed. Progression can be rapid and may result in shock and death.

Extradural haemorrhage also known as an epidural hematoma, is a collection of blood that forms between the inner surface of the skull and outer layer of the dura, which is called the endosteal layer. They are usually associated with a history of head trauma and frequently associated skull fracture. The source of bleeding is usually arterial, most commonly from a torn middle meningeal artery.

A subdural haemorrhage (or hematoma) is a type of bleeding that often occurs outside the brain as a result of a severe head injury. It takes place when blood vessels burst between the brain and the leather-like membrane that wraps around the brain (the dura mater). The pooling blood creates pressure on the surface of the brain, causing a variety of problems.

Metformin works by improving the sensitivity of peripheral tissues to insulin, which results in a reduction of circulating insulin levels. Metformin inhibits hepatic gluconeogenesis and it also increases the glucose uptake by peripheral tissues and reduces fatty acid oxidation. Metformin has a positive effect on the endothelium and adipose tissue independent of its action on insulin and glucose levels.
Metformin was the first insulin sensitising drug (ISD) to be used in PCOS to investigate the role of insulin resistance in the pathogenesis of the syndrome
Several effects have been reported as related to metformin in PCOS patients including restoring ovulation, reducing weight, reducing circulating androgen levels, reducing the risk of miscarriage and reducing the risk of gestational diabetes mellitus (GDM). Other studies have reported that the addition of metformin to the ovarian stimulation regime in invitro fertilization (IVF) improves the pregnancy outcome. These effects will be addressed individually.

Primary amenorrhea is defined as the total absence of menarche in a girl of 14 years of age if the secondary sexual characteristics are also absent or in a girl of 16 years of age in whom normal secondary sexual characteristics are present. There are multiple causes of primary amenorrhea, but the most common are constitutional delay, imperforate hymen, congenital adrenal hyperplasia, hypothalamic failure, and testicular feminization. Cushing’s syndrome leads to secondary amenorrhea, which is defined as the absence of a menstrual period for 6 consecutive cycles in a girl who has achieved menarche.

Congenital hypothyroidism is associated with failure to thrive, macroglossia, prolonged jaundice of a new-born and constipation.

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.

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.

The presentation is suggestive of nephrotic syndrome. A trial of corticosteroids is the first step in treatment of idiopathic nephrotic syndrome. Diuretics are useful in managing symptomatic oedema. Cyclosporin and cyclophosphamide are indicated in frequently relapsing and steroid dependant disease.

Recurrent bacterial infections may be due to lack of B-cell function, consequently resulting in a lack of gamma globulins production. Once the maternal antibodies have depleted, the disease manifests with greater severity and is called x-linked agammaglobulinemia also known as ‘X-linked hypogammaglobulinemia’, ‘XLA’ or ‘Bruton-type agammaglobulinemia. it is a rare x linked genetic disorder that compromises the bodies ability to fight infections.

Acute leukaemia causes immunodeficiency but not so specific.

DiGeorge syndrome is due to lack of T cell function.

Aplastic anaemia and EBV infection does not cause immunodeficiency.

Pupils are dilated in patients with amitriptyline overdose.

Tricyclic antidepressants have a narrow therapeutic index, and thus, small doses can be fatal in children. Deaths from tricyclics are more common than other antidepressants. Bimodal incidence with toddlers (accidental) and teenagers (deliberate) most commonly affected.

Symptoms: They occur within 6 hours of ingestion.
– Nausea, vomiting, and headache
– Elevated body temperature
– Agitation, sleepiness, confusion, coma
– Dry mouth, blurred vision, urinary retention (anticholinergic)
– Dilated pupils
– Seizures
– Hypotension, tachycardia, conduction disorders, and cardiac arrest
– Respiratory depression

Management:
Treatment focuses on supportive care. This includes airway protection, ventilation and oxygenation, intravenous fluids, and cardiac monitoring.
Other measures include:
– Activated charcoal within 2 hours
– Hypotension is treated with IV fluids and adrenaline
– Cardiac monitoring
– Sodium bicarbonate in acidosis or if there are wide QRS complex (> 100 ms)
– Convulsions may require diazepam or lorazepam.

After a period of 14 days, if jaundice persists in a term new-born, having ruled out the other possibilities, biliary atresia should be considered as a possible diagnosis.

Biliary atresia is a rare but serious condition. Symptoms include obstructive jaundice (dark urine and pale stool).

Management:
Surgery within 8 weeks is recommended.
Survival is around 90% using current treatment regimes.
Without treatment, children will survive to around 18 months.

Various types of birthmarks are commonly seen in children of different age groups. Birthmarks can be broadly classified as pigmented and vascular birthmarks. Port-wine stain (nevus flammeus) is an example of a vascular birthmark, and is characterized by a reddish-purple discoloration of the skin due to abnormal underlying skin vasculature. Port-wine stain has also been associated with vascular diseases like Sturge-weber syndrome, which is a congenital neurocutaneous disorder. In Sturge-weber syndrome, the port-wine stain affects the skin around the ophthalmic branch of trigeminal nerve.

The clinical presentation is typical of a slipped femoral epiphysis, which refers to a fracture through the growth plate (physis), resulting in slippage of the overlying end of the femur. It is the most common hip disorder in adolescence. SCFEs usually cause groin pain on the affected side, but sometimes cause knee or thigh pain. The range of motion in the hip is restricted in internal (medial) rotation, abduction, and flexion.

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.

Immunity against mumps develops over a long time. There is nothing to be done except to proceed with the usual vaccination schedule.

Keratosis pilaris most often affects the outer aspect of both upper arms. It may also occur on the thighs, buttocks and sides of the cheeks, and less often on the forearms and upper back. The distribution is symmetrical.
The scaly spots may appear skin coloured, red (keratosis pilaris rubra) or brown (hyperpigmented keratosis pilaris). They are not itchy or sore.

Macules are flat, nonpalpable lesions usually < 10 mm in diameter.
Examples include freckles, flat moles, tattoos, and port-wine stains, and the rashes of rickettsial infections, rubella, measles (can also have papules and plaques), and some allergic drug eruptions.

Papules are elevated lesions usually < 10 mm in diameter that can be felt or palpated. Examples include nevi, warts, lichen planus, insect bites, seborrheic keratoses, actinic keratoses, some lesions of acne, and skin cancers. Plaques are palpable lesions > 10 mm in diameter that are elevated or depressed compared to the skin surface. Plaques may be flat topped or rounded. Lesions of psoriasis and granuloma annulare commonly form plaques.

Nodules are firm papules or lesions that extend into the dermis or subcutaneous tissue. Examples include cysts, lipomas, and fibromas.

Vesicles are small, clear, fluid-filled blisters < 10 mm in diameter. Vesicles are characteristic of herpes infections, acute allergic contact dermatitis, and some autoimmune blistering disorders (e.g., dermatitis herpetiformis). Bullae are clear fluid-filled blisters > 10 mm in diameter. These may be caused by burns, bites, irritant contact dermatitis or allergic contact dermatitis, and drug reactions. Classic autoimmune bullous diseases include pemphigus vulgaris and bullous pemphigoid. Bullae also may occur in inherited disorders of skin fragility.

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.

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

Possible Zika virus infections have been identified in breastfeeding babies, but Zika virus transmission through breast milk has not been confirmed. Additionally, we do not yet know the long-term effects of Zika virus on young infants infected after birth. Because current evidence suggests that the benefits of breastfeeding outweigh the risk of Zika virus spreading through breast milk, CDC continues to encourage mothers to breastfeed, even if they were infected or lived in or travelled to an area with risk of Zika.

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

Developmental dysplasia (DDH) of the hip refers to patients who are born with a dislocated or unstable hip due to abnormal development of the hip. Female infants and first born infants are most likely to present with DDH. Other risk factors for DDH include, breech positioning, oligohydramnios, high birth weight or post date babies.

Group B beta-haemolytic Streptococcus (GBS) and Escherichia coli are the most common cause of early sepsis. Group B Streptococcus (GBS), also known as Streptococcus agalactiae, is best known as a cause of postpartum infection and as the most common cause of neonatal sepsis.
The GBS organism colonizes the vagina, GI tract, and the upper respiratory tract of healthy humans. GBS infection is almost always associated with underlying abnormalities. In elderly persons aged 70 years or older, GBS infection is strongly linked with congestive heart failure and being bedridden.
Penicillin remains the drug of choice for group B streptococcal infection but resistance may occur.

As this boy was dry for a considerable period, there is a high chance of a secondary cause for the bed wetting, such as bladder infections, constipation, diabetes, psychological stress and hormonal problems etc. These have to be excluded.

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, including the glabrous skin. It produces an erythematous itchy skin rash with a central area of clearance surrounded by raised scaly borders. Lesions can appear as concentric circles that overlap, referred to as tinea imbricate.

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.

Intussusception is an urgent condition that must be excluded first as it may lead to life-threatening complications.

The coeliac axis supplies the liver and stomach and from the oesophagus to the first half of the duodenum.
The second half of the duodenum to the first two thirds of the transverse colon is supplied by the superior mesenteric artery.
The inferior mesenteric supplies the last third of the transverse colon (approximately from the splenic flexure) to the first third of the rectum.
The last two thirds of the rectum are supplied by the middle rectal artery.
The greater curvature of the stomach is supplied by branches of the splenic artery, which itself comes from the coeliac axis.

Macrosomia can be defined as either a birth weight greater than 4kg or birth weight greater than 90% for the gestational age. Risk factors for macrosomia include maternal diabetes, excessive gestational weight gain, pre-pregnancy obesity, male gender, ethnicity, and advanced gestational age. Genetic conditions associated with macrosomia are Bardet-Biedl syndrome, Perlman syndrome, Beckwith-Wiedemann syndrome, and Prader-Willi syndrome. Silver-Russell syndrome is associated with intrauterine growth retardation and post-natal failure to thrive.

A 3-dimensional transoesophageal echocardiography (3D TEE) provides direct visualization of the entire PFO anatomy and surrounding structures. It allows more accurate diagnosis.

Coarctation of the aorta may be defined as a constricted aortic segment that comprises localized medial thickening, with some infolding of the medial and superimposed neointimal tissue.
The presence of associated defects and aortic arch anomalies, the extent of patency of the ductus arteriosus, the rapidity of the process of closure of the ductus arteriosus, and the level of pulmonary vascular resistance determine the timing of clinical presentation and the severity of symptoms. Young patients may present in the first few weeks of life with poor feeding, tachypnoea, and lethargy and progress to overt CHF and shock. These patients may have appeared well before hospital discharge, and deterioration coincides with closure of the patent ductus arteriosus. Presentation may be abrupt and acute with ductal closure.

Neonates may be found to have tachypnoea, tachycardia, and increased work of breathing and may even be moribund with shock. Keys to the diagnosis include blood pressure (BP) discrepancies between the upper and lower extremities and reduced or absent lower extremity pulses to palpation. However, when the infant is in severe heart failure, all pulses are diminished.
The murmur associated with coarctation of the aorta may be nonspecific yet is usually a systolic murmur in the left infraclavicular area and under the left scapula.

A 2 year old child who is developing normally should be able to point to three body parts, identify familiar objects in his environment such as a crayon or a toy and follow simple instructions.

At 3 years old he should be able to copy a circle, jump up and down and name three colours.

Answer: Surgery over the next few days

Inguinal hernia is a type of ventral hernia that occurs when an intra-abdominal structure, such as bowel or omentum, protrudes through a defect in the abdominal wall. Inguinal hernias do not spontaneously heal and must be surgically repaired because of the ever-present risk of incarceration. Generally, a surgical consultation should be made at the time of diagnosis, and repair (on an elective basis) should be performed very soon after the diagnosis is confirmed.

The infant or child with an inguinal hernia generally presents with an obvious bulge at the internal or external ring or within the scrotum. The parents typically provide the history of a visible swelling or bulge, commonly intermittent, in the inguinoscrotal region in boys and inguinolabial region in girls.
The swelling may or may not be associated with any pain or discomfort.

The patient’s symptoms are most likely due to phenytoin intake.

Note:
Hypertrichosis occurs in 5-12% of patients on phenytoin and is most prominent on the extremities.
Other options:
– Hypertrichosis is the excess hair growth, whereas hirsutism is the development of male-pattern-dependent hair growth, as seen in polycystic ovarian syndrome.
– A Becker’s naevus is associated with localised hypertrichosis in the naevus.
– Cyclosporine intake can typically lead to diffuse hair growth that begins within 2-4 weeks of starting the drug.
– Hereditary gingival fibromatosis is associated with variable hypertrichosis occurring on the eyebrows, face, limbs and mid-back.

Tuner’s syndrome is not associated with arachnodactyly.

Arachnodactyly is seen in the following conditions:
– Marfan syndrome
– Homocystinuria
– Ehlers-Danlos syndrome
– Congenital contractural arachnodactyly

Other rare syndromes include:
– Loeys-Dietz syndrome
– Antley-Bixler syndrome
– Marden-Walker syndrome
– Lujan-Frinz syndrome
– Haim-Munk syndrome
– Marden-Walker syndrome
– Spondylocostal dysostosis

The injury described in question leads to an abnormal communication between the orbit and the ipsilateral maxillary sinus – this is termed as a blow-out fracture of the orbit.

The maxillary sinuses are found in the maxillary bone, inferior to the orbit. They are the largest of the paranasal air sinuses. The maxillary bone forms the floor of the orbit. This layer of bone separates the orbit from the maxillary sinus. As such, fractures of the floor of the orbit can be associated with herniation of the orbital contents into the maxillary sinus.

Other options:
– The ethmoidal air cells are a collection of smaller air cells in the ethmoid bone. They lie lateral to the anterior superior nasal cavity. They are separated from the orbit by a very thin plate of ethmoid bone called the lamina papyracea, which is found on the medial wall of the orbit. The thin nature of this bone means it is commonly fractured in orbital trauma. However, this is the incorrect answer to the above question as a communication between the ethmoidal air cells, and the orbit is associated with fractures of the medial wall of the orbit, not the floor.
– The frontal sinuses are found in the frontal bones, above the orbits on each side of the head. A large portion of the roof of the orbit is composed of the frontal bone and separates the orbit from the frontal sinus. Fractures of the roof of the orbit can be associated with communication between the frontal sinus and orbit. The frontal bones are strong, and so fracture is associated with high-impact anterior trauma, such as a road traffic accident.
– The sphenoid sinuses are found in the posterior portion of the roof of the nasal cavity. The pituitary gland lies nestled within the hypophyseal fossa, with only a thin wall of bone separating it from the sphenoid sinus below. As such, neurosurgeons can gain access to the pituitary gland via the sphenoid sinus, in a procedure called transsphenoidal hypophysectomy.
– The nasal cavity extends from the nares to the nasopharynx. It is found more medial and inferior than the orbits. It does not lie adjacent to the orbit at any point and so is unlikely to be involved in an orbital fracture.

If the 95% confidence interval contains zero (more precisely, the parameter value specified in the null hypothesis), then the effect will not be significant at the 0.05 level.

If the 95% CI for the DIFFERENCE between the 2 groups contains the value 0, this means that the p-value will be greater than 0.05. Conversely, if the 95% CI does not contain the value 0, then the p-value will be strictly less than 0.05. The same applies when comparing groups using a ratio, such as an odds ratio or risk ratio. When using a RATIO instead of a DIFFERENCE, the situation of no difference between the 2 groups will be indicated by a value of 1 instead of 0. If the ratio equals to 1, the 2 groups are equal. Hence, if the 95% CI of the ratio contains the value 1, the p-value will be greater than 0.05. Alternatively, if the 95% CI does not contain the value 1, the p-value is strictly less than 0.05.

Gitelman syndrome is a kidney disorder that causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium.

The signs and symptoms of Gitelman syndrome usually appear in late childhood or adolescence. Common features of this condition include painful muscle spasms (tetany), muscle weakness or cramping, dizziness, and salt craving. Also common is a tingling or prickly sensation in the skin (paraesthesia), most often affecting the face. Some individuals with Gitelman syndrome experience excessive tiredness (fatigue), low blood pressure, and a painful joint condition called chondrocalcinosis. Studies suggest that Gitelman syndrome may also increase the risk of a potentially dangerous abnormal heart rhythm called ventricular arrhythmia.

A peripheral blood film in iron deficiency anaemia can reveal the following morphologically variant RBCs:
– Microcytic cells
– Hypochromic cells
– Pencil cells
– Target cells
Other options:
– Schistocytes can be caused by mechanical heart valves.
– Rouleaux can be seen in chronic liver disease and malignant lymphoma.
– Tear-drop poikilocytes can be seen in myelofibrosis.
– Acanthocytes can be seen in liver disease and McLeod blood group phenotype.

Pathological red cell forms include:
– Target cells: Sickle-cell/thalassaemia, iron-deficiency anaemia, hyposplenism, and liver disease.
– Tear-drop poikilocytes: Myelofibrosis
– Spherocytes: Hereditary spherocytosis and autoimmune haemolytic anaemia
– Basophilic stippling: Lead poisoning, thalassaemia, sideroblastic anaemia, and myelodysplasia
– Howell-Jolly bodies: Hyposplenism
– Heinz bodies: G6PD deficiency and alpha-thalassaemia
Schistocytes (‘helmet cells’): Intravascular haemolysis, mechanical heart valve, and disseminated intravascular coagulation
– Pencil poikilocytes: Iron deficiency anaemia
– Burr cells (echinocytes): Uraemia and pyruvate kinase deficiency
– Acanthocytes: Abetalipoproteinemia

Meconium aspiration syndrome (MAS) refers to breathing problems that a new-born baby may have when:
– There are no other causes, and
– The baby has passed meconium (stool) into the amniotic fluid during labour or delivery

The most recent guidelines are as follows:
– If the baby is vigorous (defined as having a normal respiratory effort and normal muscle tone), the baby may stay with the mother to receive the initial steps of new-born care. A bulb syringe can be used to gently clear secretions from the nose and mouth.

– If the baby is not vigorous (defined as having a depressed respiratory effort or poor muscle tone), place the baby on a radiant warmer, clear the secretions with a bulb syringe, and proceed with the normal steps of new-born resuscitation (i.e., warming, repositioning the head, drying, and stimulating). If, after these initial steps are taken, the baby is still not breathing or the heart rate is below 100 beats per minute (bpm), administer positive pressure ventilation.

Resuscitation should follow the same principles for infants with meconium-stained fluid as for those with clear fluid

Continued care in the neonatal intensive care unit (NICU):
Maintain an optimal thermal environment to minimize oxygen consumption.
Minimal handling is essential because these infants are easily agitated. Agitation can increase pulmonary hypertension and right-to-left shunting, leading to additional hypoxia and acidosis. Sedation may be necessary to reduce agitation.
An umbilical artery catheter should be inserted to monitor blood pH and blood gases without agitating the infant.
Continue respiratory care includes oxygen therapy via hood or positive pressure, and it is crucial in maintaining adequate arterial oxygenation. Mechanical ventilation is required by approximately 30% of infants with MAS. Make concerted efforts to minimize the mean airway pressure and to use as short an inspiratory time as possible. Oxygen saturations should be maintained at 90-95%.
Surfactant therapy is commonly used to replace displaced or inactivated surfactant and as a detergent to remove meconium. Although surfactant use does not appear to affect mortality rates, it may reduce the severity of disease, progression to extracorporeal membrane oxygenation (ECMO) utilization, and decrease the length of hospital stay.

Jacob is likely to be four years old as demonstrated by his activities throughout the day. Most 4 year olds are able to run well, jump and hop, but find skipping a little more difficult. They are able to brush their teeth and dress themselves with supervision, and go to the toilet alone.

The right testicular vein is a tributary of the inferior vena cava, while the left testicular vein drains into the left renal vein.
Note:
The testicular venous drainage begins in the septa and these veins together with those of the tunica vasculosa converge on the posterior border of the testis as the pampiniform plexus. The pampiniform plexus, in turn, drains to the testicular vein.

An incarcerated indirect inguinal hernia presents with abdominal pain, bloating, nausea, vomiting, and intestinal obstruction. It is characterized by the appearance of a tender mass in the inguinal area. Manual reduction in children requires analgesia and sedation.

Cranial nerve XI is also known as the accessory nerve. The accessory nerve innervates the trapezius muscle which retracts the scapula. The upper and lower fibres act together to also upwardly rotate it.

Because of the patient’s history of chronic analgesic use of daily paracetamol intake, the most likely diagnosis of this case is Analgesic misuse headache. In these cases, the headache is only temporarily relieved by analgesics. Treatment involves gradual withdrawal of analgesics.

Broca’s area is usually supplied by branches from the middle cerebral artery and thus will be spared when the anterior cerebral artery is occluded.

Note:
The two internal carotid arteries and two vertebral arteries form an anastomosis known as the Circle of Willis on the inferior surface of the brain. Each half of the circle is formed by:
1. Anterior communicating artery
2. Anterior cerebral artery
3. Internal carotid artery
4. Posterior communicating artery
5. Posterior cerebral arteries and the termination of the basilar artery

The circle and its branches supply the corpus striatum, internal capsule, diencephalon and midbrain.

Bilious (green) gastric aspirate or emesis indicates that the intestines are obstructed below the ampulla of Vater.
Gastrointestinal (GI) endoscopy is actually considered an essential diagnostic and therapeutic technique. Upper GI endoscopy in neonatal age allows for exploration of the oesophagus, stomach and duodenum; instead lower GI endoscopy easily reaches the sigmoid-colon junction.

Haemophilia A has an X-linked recessive pattern of inheritance, meaning that is a 50% chance of having a son with haemophilia and 50% chance of the daughters being carriers of the haemophilia gene.

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.

Immunoglobulin G (IgG) glomerular immune deposits are seen more commonly in HSP compared to IgA nephropathy.
The presentation of the child is highly suggestive of Henoch-Schonlein purpura (HSP).
It is an IgA-mediated, autoimmune hypersensitivity vasculitis that targets the small vessels of the skin, GI tract, kidneys, and joints.
It is most commonly seen in children aged 3 – 6years and is twice as common in boys than girls.
Preceding viral URTI with low-grade pyrexia is common. The most common organism associated with HSP is, however, Group A streptococcal infection A.
A purpuric rash is seen on the back of the legs and buttocks and can less frequently, affect the arms. Arthralgia is common (usually knees/ankles) in these patients. Abdominal pain and bloody diarrhoea may occur. And half of the children with HSP have renal involvement. Rarely, it can lead to end-stage renal failure.

Treatment includes adequate hydration, occasionally steroids, and other immunosuppressants. The disease can recur in 1 in 3 children.

Case control studies are observational studies which retrospectively determine whether a patient might have been exposed to a risk factor for a certain disease, as compared to a control group from the general population. They can be used for a range of outcomes as well as rare diseases. One of the biggest problems with this type of study is recall bias. Research subjects may selectively remember factors that are more predictive of the disease outcome when compared to the control group. All studies should have prior power calculations before the study commences.

Neurofibromatosis (aka Von Recklinghausen’s disease) includes: neurofibrosarcomas, pheochromocytoma, optic nerve tumours, scoliosis and acoustic neuromas.

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.

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%.

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).

Itchy skin conditions include:
Allergy & anaphylaxis
Athletes foot
Atopic dermatitis
Contact dermatitis
Drug allergy
Erythema multiforme
Folliculitis
Impetigo
Insect bites, stings, infestations
Kawasaki disease
Lichen planus
Nummular eczema
Pityriasis rosea
Psoriasis
Scabies
Tinea corporis
Toxic epidermal necrolysis
Urticaria
Varicella
Viral exanthem
Note: Miliaria rubra is itchy, miliaria profunda usually isn’t.

ASD is an acyanotic congenital heart disease, characterized by the failure of the interatrial septum to form completely, which results in the mixing of left and right-sided blood. There are various types of ASD, some of them are ostium primum septal defect and patent foramen ovale. Clinical findings associated with ASD are a systolic ejection murmur, fixed splitting of second heart sound, prolonged PR interval, both left and right axis deviation (primum and secundum ASD, respectively). The most common finding is an incomplete right bundle branch block.

HbA1c stands for glycated haemoglobin. In patients with haemolytic diseases associated with a shortened RBC survival, HbA1c levels can be unusually low despite controlled diabetes mellitus.
These haemolytic diseases can include glucose-6-phosphate dehydrogenase deficiency and sickle cell anaemia.

HbA1c:
It is a measure of non-enzymatic glycation which occurs due to haemoglobin’s exposure to plasma glucose. As plasma glucose increases so does HbA1c.
The level of HbA1c quantitively assesses the control of diabetes mellitus over the last 120 days (as this is the life span of a red blood cell).

Haemoglobin type A is separated on cation exchange chromatography
Other subsections include HbA1O, HbA1a, HbA1b.

According to the updated NICE recommendations (2015):
The target level of HbA1c in children with T1DM is 48 mmol/mol (6.5%) or lower. It is monitored every three months. Better control is associated with fewer long term complications

All the given development milestones are compatible with the given age.

Foreign body aspiration (FBA) commonly occurs in children aged 1-3 years. FBA typically presents with sudden onset of coughing and choking, followed by stridor and dyspnoea. Obstruction of the larynx or trachea is a potentially life-threatening situation that causes severe respiratory distress, cyanosis, and suffocation. Most commonly, the foreign body (FB) becomes lodged in the main and intermediate bronchi; approx. 60% of FB are located in the right main bronchus due to the more vertical orientation compared to the left main bronchus.
Reduced breath sounds on the one side only would not be explained by a tracheal obstruction as it would cause reduced breath sounds bilaterally and a more severe clinical picture.

Persistent pulmonary hypertension of the new-born is secondary to the failure of normal circulatory transition at birth, leading to an abnormally high pulmonary vascular resistance. This elevated resistance causes right-to-left shunting of blood and hypoxemia. It can be caused by parenchymal lung diseases (meconium aspiration syndrome, pneumonia or ARDS), lung hypoplasia (like occurring in oligohydramnios or diaphragmatic hernia), or it can be idiopathic. Other possible causes include maternal indomethacin use, group B streptococcal septicaemia, and high-pressure ventilation. Duct dependent congenital heart disease does not lead to persistent pulmonary hypertension.

Scabies infection in neonates typically manifests as nodular eruptions involving the face, neck, scalp, palms, and soles in contrast to the predominant involvement of the hands, wrists, elbows, and ankles in adults. Differential diagnoses for the nodular eruption in neonates are broad, and scabies often is misdiagnosed as Langerhans cell histiocytosis, urticaria pigmentosa, or another pruritic, bullous, or lymphoproliferative dermatosis. Histopathology of the reactive nodules usually is not diagnostic, because scabetic organisms are often unidentified and histologic findings are nonspecific. Furthermore, because of the atypical presentation, scabies in children is often missed until persons in close contact with the child present with similar symptoms. Thus, a thorough history and close follow-up are crucial to avoid misdiagnosis and unnecessary aggressive treatment. Moreover, synchronized treatment of patients and their close contacts is needed to ensure the success of therapy, considering that relapse is 2-3 times more frequent in children and infants

6 month old babies that go through normal developmental milestones, should enjoy playing with others and especially their parents.
The other milestones are expected of a 9-month-old.

Oligohydramnios is a deficiency in the amniotic fluid volume, measured via ultrasound. Maternal factors associated with oligohydramnios include conditions where there is placental insufficiency such as chronic hypertension, preeclampsia or a thrombotic disorder, post-term pregnancy, premature rupture of membranes, certain chromosomal abnormalities, and obstructions of the foetal urinary tract. On the other hand conditions that are associated with polyhydramnios (excess amniotic fluid) include maternal diabetes, multiple gestations, Rh incompatibility and pulmonary abnormalities.

Nephrogenic Diabetes Insipidus is an acquired or hereditary condition that affects the water balance. It presents with polyuria and polydipsia, leading commonly to dehydration.

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.