Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme deficiency in humans.It has a high prevalence in persons of African, Asian, and Mediterranean descent. It is inherited as an X-linked recessive disorder.G6PD deficiency is polymorphic, with more than 300 variantsG6PD deficiency can present as neonatal hyperbilirubinemia. Besides, persons with this disorder can experience episodes of brisk haemolysis after ingesting fava beans or being exposed to certain infections or drugs. Less commonly, they may have chronic haemolysis. However, many individuals with G6PD deficiency are asymptomatic.Most individuals with G6PD deficiency do not need treatment. However, they should be taught to avoid drugs and chemicals that can cause oxidant stress. Infants with prolonged neonatal jaundice as a result of G6PD deficiency should receive phototherapy with a bili light.

Morphea, also known as localized scleroderma, is a disorder characterized by excessive collagen deposition leading to thickening of the dermis, subcutaneous tissues, or both. Morphea is classified into circumscribed, generalized, linear, and pansclerotic subtypes according to the clinical presentation and depth of tissue involvement. Unlike systemic sclerosis, morphea lacks features such as sclerodactyly, Raynaud phenomenon, nailfold capillary changes, telangiectasias, and progressive internal organ involvement. Morphea can present with extracutaneous manifestations, including fever, lymphadenopathy, arthralgias, fatigue, central nervous system involvement, as well as laboratory abnormalities, including eosinophilia, polyclonal hypergammaglobulinemia, and positive antinuclear antibodies.

Peutz-Jeghers syndrome is an autosomal dominant genetic disease. It presents with hyperpigmentation patches on the oral mucosa, lips, palm and soles, and nasal alae. It also presents with hamartomatous polyps in the gut, hence the fresh blood in this particular case.

Presentation can vary by individual. Early stages are often characterized by malaise, fatigue, and lethargy. One to 3 months of inadequate intake can lead to anaemia, myalgia, bone pain, easy bruising (Figure 3), swelling, petechiae, perifollicular haemorrhages, corkscrew hairs, gum disease, poor wound healing, mood changes, and depression. Perifollicular haemorrhages and easy bruising are often first seen in the lower extremities, as capillary fragility leads to an inability to withstand hydrostatic pressure. Late stages of scurvy are more severe and life threatening; common manifestations include generalized oedema, severe jaundice, haemolysis, acute spontaneous bleeding, neuropathy, fever, convulsions, and death.

The most common position of the appendix is the retrocecal position.Note: If a retrocecal appendix is difficult to remove, then mobilisation of the right colon significantly improves access.Other options:The various positions of the appendix are:- Retrocecal (74%)- Pelvic (21%)- Postileal- Subcaecal- Paracaecal- Preileal

Anorexia nervosa is a serious, psychiatric eating disorder characterized by distorted self-image due to which abnormal eating behaviours are adopted. This disorder affects multiple bodily systems, including the gastrointestinal system. The GI manifestations of anorexia are enlarged salivary glands due to purging behaviour, gastritis, gastroparesis, acute gastric dilatation, superior mesenteric artery syndrome, elevated liver transaminases, which cause hepatocyte apoptosis leading to cirrhosis, and steatosis leading to fatty liver. Hepatosplenomegaly is not a recognized complication of anorexia nervosa.

Puberty is a period of transitioning into adulthood by developing full reproductive potential by undergoing drastic physiological and psychological changes. For boys, it occurs around 9-16 years of age typically. The process of pubertal changes is usually divided into stages called tanner’s stages. The physiologic changes of puberty are initiated by the release of gonadotropin-releasing hormones from the hypothalamus, which then interact with numerous endogenous and environmental stimuli to bring about the physical pubertal features. Tanner stage 2 in boys is characterized by the thinning and reddening of the scrotal skin.The growth spurt of around 9cm per year is expected in boys, at the peak velocity.Testicular enlargement of >3cm commences puberty.Pubarche, in the absence of other secondary sexual characteristics, is pathological.Adrenarche is the increase in the secretion of adrenal androgens, occurring prior to increased gonadotropin release.

Based on the clinical scenario, the most probable diagnosis in this patient is Kallmann’s syndrome.Kallmann’s syndrome is due to isolated gonadotrophin-releasing hormone (GnRH) deficiency. It is often inherited in an X-linked recessive manner. Other options:- While Klinefelter’s syndrome is also associated with hypogonadism, the other clinical features of Klinefelter’s are not seen. – Cryptorchidism is ruled out by the presence of testes in the scrotum. – The presentation of the child is not suggestive of mumps orchitis or hyperprolactinaemia.

A lymphangioma is a swelling or mass that occurs mainly in the head, neck, and mouth. Lymphangiomas are the result of a congenital condition and are usually apparent at birth, or at least by the time a person is 2 years old. It is rare in adult population and when detected, it can be treated with surgical excision. Branchial cyst in most cases does not transilluminate which lymphangioma does.

Turner syndrome is a genetic disease that affects females. It presents with wide-spread nipples, low hairline, lymphoedema, short 4th metacarpals, high-arched palate, cardiac problems, and horseshoe kidneys.

The most probable diagnosis for the above clinical scenario, of a child presenting with motor and vocal tics for more than a year is highly suggestive of a diagnosis of Tourette syndrome. The symptoms often wax and wane, and although several different drugs are available, none are entirely useful, and side-effects are relatively common. With these considerations in mind, it is essential to try and avoid treatment initially as the tics can spontaneously improve with time. Informing the teacher and class about the nature of the condition and allowing the child ‘time out’ to tic might help to avoid the need for medication.

The patient history suggests a spontaneous tension pneumothorax which is a life-threatening situation in which excess air is introduced into the pleural space surrounding the lung. When there is a significant amount of air trapped in the pleural cavity, the increasing pressure from this abnormal air causes the lung to shrink and collapse, leading to respiratory distress. This pressure also pushes the mediastinum (including the heart and great vessels) away from its central position, e.g. deviated trachea, and diminishing the cardiac output. Tension pneumothoraxes cause chest pain, extreme shortness of breath, respiratory failure, hypoxia, tachycardia, and hypotension. These are definitively managed by insertion of a chest tube. However, in the emergency setting temporizing measures are needed while chest tube materials are being gathered. In these situations, urgent needle thoracostomy (also called needle decompression) is performed.

NICE does not recommend the use of antibiotics or tonsillectomy in this case. Paracetamol/Ibuprofen are indicated as they provide antipyretic action and analgesia. Indications for tonsillectomy are 5 or more episodes of acute sore throat/year, symptoms present for at least 2 years, symptoms are severe enough to disrupt a child’s social life. Indications for antibiotics are features of marked systemic upset secondary to the acute sore throat, unilateral peritonsillitis, history of rheumatic fever, an increased risk from acute infection, acute tonsillitis with 3 or more of the following: history of fever, tonsillar exudates, no cough and tender anterior cervical lymphadenopathy.

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.

The nerve supply to the tensor tympani is the mandibular nerve.The mandibular nerve is the only division of the trigeminal nerve that carries motor fibres.Tensor tympani is a muscle that lies in a bony canal just superior to the pharyngotympanic tube. It originates from the cartilaginous portion of the pharyngotympanic tube, the bony canal in which it sits, and the greater wing of the sphenoid bone. It inserts into the upper part of the handle of the malleus. When contracted, it pulls the handle of the malleus medially. This action increases the tension across the tympanic membrane, reducing the magnitude of vibrations transmitted into the middle ear. This dampens loud noises or noises produced by chewing. Tensor tympani is innervated through the nerve to tensor tympani, which arises from the mandibular nerve.Other options:- The vestibulocochlear nerve is the eighth cranial nerve. This nerve has two components, a vestibular division that carries balance information, and a cochlear division that carries hearing information.- The glossopharyngeal nerve is the ninth cranial nerve. It has a wide range of functions. It carries taste and sensation from the posterior third of the tongue, as well as sensation from the pharyngeal wall and tonsils, the middle ear, external auditory canal and auricle. It carries parasympathetic fibres that supply the parotid gland. It also supplies the baroreceptors and chemoreceptors of the carotid sinus and supplies the secretomotor fibres to the parotid gland.- The maxillary nerve carries only sensory fibres.- The facial nerve is the seventh cranial nerve. It supplies the muscles of facial expression, as well as stylohyoid, the posterior belly of digastric, and stapedius (the only other muscle associated with the middle ear). It carries taste from the anterior two-thirds of the tongue and sensation from part of the external acoustic meatus, parts of the auricle and the retro-auricular area. It provides secretomotor fibres which supply to the submandibular gland, sublingual gland (via chorda tympani nerve), nasal glands and lacrimal glands.

Congenital cytomegalovirus infection causes; jaundice, hepatosplenomegaly, petechia, microcephaly, hearing loss and seizures.

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 – 4To speech – 3To pain – 2No response – 1Best Verbal Response:Oriented – 5Words – 4Vocal sounds – 3Cries – 2No response – 1Best Motor Response (as in adult scale):Obeys commands – 5Localises pain – 4Flexion to pain – 3 Extension to pain – 2No response – 1 The described child scores:Eye response – 1; Verbal response – 3; Motor response – 4Thus, bringing the total ACS score to 8.

The femoral artery is the one accompanying the femoral shaft, being the most important blood supplier of the leg. Femoral artery injury during a femur shaft fracture is quite common as a result of blunt trauma.

Certain CHDs may present with a differential cyanosis, in which the preductal part of the body (upper part of the body) is pinkish but the post ductal part of the body (lower part of the body) is cyanotic, or vice versa (reverse differential cyanosis). The prerequisite for this unique situation is the presence of a right-to-left shunt through the PDA and severe coarctation of the aorta or aortic arch interruption or severe pulmonary hypertension. In patients with severe coarctation of the aorta or interruption of the aortic arch with normally related great arteries, the preductal part of the body is supplied by highly oxygenated pulmonary venous blood via the LA and LV, whereas the post ductal part is supplied by deoxygenated systemic venous blood via the RA, RV, main pulmonary artery (MPA) and the PDA. In the new-born with structurally normal heart, a differential cyanosis may be associated with persistent pulmonary hypertension of the new-born. In the cases of TGA with coarctation of the aorta or aortic arch interruption, the upper body is mostly supplied by systemic venous blood via the RA, RV, and ascending aorta, whereas the lower body is supplied by highly oxygenated pulmonary venous blood via the LA, LV, MPA, and then the PDA. For accurate detection of differential cyanosis, oxygen saturation should be measured in both preductal (right finger) and post ductal (feet) parts of the body.

The average age for girls to begin puberty is 11.The first sign of puberty in girls is usually that their breasts begin to develop.It’s normal for breast buds to sometimes be very tender or for one breast to start to develop several months before the other one.Pubic hair also starts to grow, and some girls may notice more hair on their legs and arms.After a year or so of puberty beginning, and for the next couple of years:girls’ breasts continue to grow and become fuller.Around 2 years after beginning puberty, girls usually have their first period,pubic hair becomes coarser and curlierunderarm hair begins to grow. From the time their periods start, girls grow 5 to 7.5cm (2 to 3 inches) annually over the next year or two, then reach their adult height.After about 4 years of puberty in girls:breasts become adult-likepubic hair has spread to the inner thighgenitals should now be fully developedgirls stop growing taller.

The equation, lung function = 3.2 + (1.7 x height) is linear, but this does not necessarily mean that the relationship itself is linear. The equation is able to predict that taller individuals are more likely to have greater lung functions. No information is given on whether the coefficients and the R value are statistically significant.

Usually, a total serum bilirubin level test is the only one required in an infant with moderate jaundice who presents on the second or third day of life without a history and physical findings suggestive of a pathologic process. Measurement of bilirubin fractions (conjugated vs unconjugated) in serum is not usually required in infants who present as described above. However, in infants who have hepatosplenomegaly, petechiae, thrombocytopenia, or other findings suggestive of hepatobiliary disease, metabolic disorder, or congenital infection, early measurement of bilirubin fractions is suggested. The same may apply to infants who remain jaundiced beyond the first 7-10 days of life, and to infants whose total serum bilirubin levels repeatedly rebound following treatment.

A preterm with respiratory distress syndrome presents with the condition as a result of immature lungs and inadequate surfactant production. Management of RDS therefore includes surfactant therapy, oxygen administration and mechanical ventilation, as well as measures such maintaining acid base levels and blood haemoglobin in an intensive care unit. Dexamethasone is not shown to be particularly effective when given to a preterm, but can however be used to prevent or decrease RDS severity when given to the mother before delivery.

An important predictor of the foetal well-being is the evaluation of amniotic fluid volumes, commonly done using ultrasonography. Amniotic fluid index (AFI) is calculated by measuring the largest vertical diameter of the fluid pocket in all four quadrants of the uterine cavity and then added together. Oligohydramnios or decreased amniotic fluid volume can be defined as an AFI less than 5cm and occurs in about 4-5% of the pregnancies. It is associated with a number of foetal abnormalities and complications. Foetal abnormalities that lead to oligohydramnios include premature rupture of membranes, intrauterine growth retardation, and congenital foetal abnormalities among others. A single umbilical artery is an anatomical defect of the umbilical cord, which leads to IUGR, uteroplacental insufficiency and may be associated with multiple congenital abnormalities as well, which all ultimately lead to the development of oligohydramnios. It also leads to multiple complications, out of which the incidence of chorioamnionitis is very high. Other complications include fetal growth retardation, limb contractures, GI atresia, and even fetal death.

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.

Minimal change glomerulonephritis presents with mild or benign urinalysis findings. However, proteinuria together with the presence of oval fat bodies are typical.Minimal change glomerulonephritis (nephropathy) accounts for most cases of childhood nephrotic syndrome and 20-25% of adult nephrotic syndrome.

Retinopathy of prematurity (ROP) affects premature infants. It is a retinal vasoproliferative disease for which current screening guidelines are primarily based on birth weight and gestational age. The disease is first detected by screening at 32-38 weeks of gestation or in infants that are about 6-7 weeks old. Screening consists of dilation of the pupils and observing for dilated vessel.

Glandular fever (Infectious Mononucleosis) is caused by Epstein-Barr virus (EBV). Leucocytosis rules in infectious mononucleosis and thrombocytopenia is not an uncommon association. ESR is elevated in most of the cases. Paul-Bunnell test is a rapid test for infectious mononucleosis due to Epstein-Barr virus (EBV).

The withdrawal and withholding of care has been reported in neonatology for over 30 years. ‘Withdrawal’ of life-saving treatment implies the elective discontinuation of ongoing life-supportive measures. ‘Withholding’ of treatment occurs when interventions necessary for immediate survival, such as surgical intervention or resuscitation (bag and mask/endotracheal ventilation, cardiac massage or adrenaline) are deliberately not administered.Withdrawal of treatment most commonly takes the form of withdrawing of ventilatory support. In the extremely premature neonate who has had poor response to bag and mask ventilation, this may mean stopping ventilation breaths, explaining to the parents the reason for discontinuation and offering comfort care according to the parents’ wishes. Parents should be prepared for the sequelae that may follow withdrawal from mechanical ventilation. The infant may become agitated secondary to hypoxia, display terminal gasping and, depending on the size and gestation of their infant, tachypnoea, intercostal recession or stridor may be evident. Parents may want to be involved in the extubation process. Following ventilator withdrawal, the length of time prior to death cannot be predicted and can be a significant cause of parental anguish if this is not explained. A side room and privacy should be made available for the family. NICE guidance suggests that women ‘should not be encouraged to hold their dead baby if they do not wish to’, although this is very much dependent on individuals.

Deficiency of 21-hydroxylase, resulting from mutations or deletions of CYP21A, is the most common form of Congenital Adrenal Hyperplasia, accounting for more than 90% of cases.Females with mild 21-hydroxylase deficiency are identified later in childhood because of precocious pubic hair, clitoromegaly, or both, often accompanied by accelerated growth and skeletal maturation (simple virilizing adrenal hyperplasia)Diagnosis of 21-hydroxylase deficiency: High serum concentration of 17-hydroxyprogesterone (usually >1000 ng/dL) and urinary pregnanetriol (metabolite of 17-hydroxyprogesterone) in the presence of clinical features suggestive of the disease; 24-hour urinary 17-ketosteroid levels are elevated