Becker’s muscular dystrophy is a disease characterised by progressive weakness and wasting of the skeletal and cardiac muscles. It is inherited and primarily affects males.

Scaphoid fractures are regarded as fractures that are difficult to heal, so a classification system is needed taking different factors into account that should lead towards proper guidance to the healing time and management of these fractures. Popular classification criteria are Herbert, Russe, and Mayo classification systems. Herbert’s classification system is based on the fracture’s stability and proposes that all complete bicortical fractures (except for tubercle fractures) are unstable. Salter-Harris classification is used for categorizing epiphyseal fractures, while Delbert classification system is reserved for fractures of the proximal femur in children. Fractures of the ankles are classified using Ottawa rules, and Garland classification is used for supracondylar fractures in children.

Pierre Robin sequence is a condition present at birth, in which the infant has micrognathia, a tongue that is placed further back than normal (glossoptosis), and cleft palate. This combination of features can lead to difficulty breathing and problems with eating early in life. Pierre Robin sequence may occur isolated or be associated with a variety of other signs and symptoms (described as syndromic). The exact causes of Pierre Robin syndrome are unknown. The most common otic anomaly is otitis media, occurring 80% of the time, followed by auricular anomalies in 75% of cases. Hearing loss, mostly conductive, occurs in 60% of patients, while external auditory canal atresia occurs in only 5% of patients.

History of fever is suggestive of an infective focus. A straight nasal bones excludes a nasal bone fracture. A nasal septal abscess is defined as a collection of pus between the cartilage or bony septum and it is an uncommon disease which should be suspected in a patient with acute onset of nasal obstruction and recent history of nasal trauma.

Infective endocarditis (IE) is caused by a bacterial, or fungal infection which damages the heart’s endothelium and can thus lead to changes in heart function, valve incompetencies, possible cardiac failure, as well other associated skin and organ changes. Organisms common in IE include Staphylococcus aureus and Streptococcus viridians. The HACEK organisms (Haemophilus, Actinobacillus, Cardiobacterium, Eikenella, and Kingella species) are common in neonates. The Duke criteria uses 2 major, or 1 major and 3 minor criteria, or 5 minor criteria to diagnose infective endocarditis. Major criteria include:- a positive blood culture and evidence of endocardial involvement. Minor criteria include: – evidence of predisposition (a heart condition of injection drug use)- a fever- vascular phenomena such as Janeway lesions- immunologic phenomena such as Osler’s nodes and Roth’s spots| and- microbiological or serological evidence of active infection.

The most prudent course of action in the given clinical scenario is an ovary-sparing cystectomy. The history is 3-months and is already chronic. Furthermore, the cyst is greater than 5cm in size and at risk of torsion. This will relieve the cause of pain, reduce the risk of torsion and save ovarian function.Other options:- This is a simple cyst and not a malignancy, so imaging and referral are not indicated.- Open oophorectomy was done in the past. However, this is very aggressive, and the modern approach is ovary-sparing.- As the cyst is 7cm and at risk of torsion, conservative management is not appropriate.

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 artery2. Anterior cerebral artery3. Internal carotid artery4. Posterior communicating artery5. Posterior cerebral arteries and the termination of the basilar arteryThe circle and its branches supply the corpus striatum, internal capsule, diencephalon and midbrain.

Answer: Do not operate and review the patient several weeks laterAir weapon injuries in children should be managed in the same way as any low velocity gun shot injury. Subcutaneous pellets are best removed. Urgent specialist referral is indicated for cranial, ocular, chest, abdominal, or vascular injuries as they may require emergency surgery. Cardiac injuries may be rapidly fatal. Penetrating abdominal injuries involving hollow viscera or major blood vessels need prompt exploration and repair. Intracranial air weapon pellets should be removed if possible. A pellet in lung parenchyma or muscle may be safely left in situ but there is a risk of infection. A pellet that has penetrated a joint or is associated with a fracture requires skilled orthopaedic management. A pellet lodged near a major blood vessel or nerve should ideally be removed. The possibility of intravascular embolism must be considered if the pellet is absent from a suspected entry site and there is no exit wound| numerous examples of arterial and venous embolism of an air weapon pellet in children have been described.In this case, the child seems well so there is no need to operate. He should be reviewed several weeks later.

Pellagra occurs as a result of niacin (vitamin B-3) deficiency. Niacin is required for most cellular processes. Since tryptophan in the diet can be converted to niacin in the body, both of these need to be deficient for pellagra to develop.The classical triad of symptoms is diarrhoea, dermatitis and dementia.The first sign is reddened skin with superficial scaling in areas exposed to sunlight, heat and friction. This may resemble severe sunburn then gradually subsides leaving a dusky brown-red colouration. The rash is usually symmetrical with a clear edge between affected and unaffected skin.

The most probable diagnosis based on the clinical presentation is myocarditis secondary to Coxsackie virus infection.Myocarditis is an important cause of acquired heart failure. The other infective causes of myocarditis are influenza and adenoviruses, and bacterial causes as seen with Borrelia burgdorferi (Lyme disease). Rheumatic fever is unlikely if the ASO titres are within normal limits. While pancarditis may occur as part of Kawasaki disease| the patient is unlikely to present in failure.

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.

Rett syndrome is a disorder that affects the brain and occurs most commonly in girls. It presents with a period of normal development followed by severe problems with language and communication, learning, coordination, and other brain functions.

Mild deficiencies of 21-hydroxylase or 3-beta-hydroxysteroid dehydrogenase activity may present in adolescence or adulthood with oligomenorrhea, hirsutism, and/or infertility. This is termed nonclassical adrenal hyperplasia.Late-onset or nonclassical congenital adrenal hyperplasia (NCAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders. Reported prevalence ranges from 1 in 30 to 1 in 1000. Affected individuals typically present due to signs and symptoms of androgen excess. Treatment needs to be directed toward the symptoms. Goals of treatment include normal linear growth velocity, a normal rate of skeletal maturation, ‘on-time’ puberty, regular menstrual cycles, prevention of or limited progression of hirsutism and acne, and fertility. Treatment needs to be individualized and should not be initiated merely to decrease abnormally elevated hormone concentrations.Normal Ultrasound rules out Turner’s syndrome.

Cricothyroidectomy is done in life threatening condition, where an incision is made in cricothyroid membrane to establish a patent airway.

The most probable diagnosis in this patient would be pulmonary stenosis. Pulmonary Stenosis:Pulmonary valve murmurs are heard in the upper left sternal edge, associated with a thrill but no desaturation in the absence of an additional shunt. The ECG changes suggest right ventricular hypertrophy. Pulmonary stenosis is often well tolerated in childhood unless severe. These should be monitored with serial echocardiography, and balloon pulmonary valvoplasty should be considered once the pressure gradient reaches 64 mmHg.Other options:- Atrial septal defect: While atrial septal defects are associated with right ventricular outflow tract murmurs, they would not cause a thrill.- Patent ductus arteriosus: PDA murmurs can be audible in the left upper sternal edge, but would normally be audible in the left infraclavicular area and be continuous rather than ejection systolic. This left to right shunt would not cause desaturation but does cause left-sided volume loading and hence left-sided ECG changes.- Tetralogy of Fallot: Ventricular septal defect, overriding aorta, subpulmonary stenosis, and right ventricular hypertrophy. This would often cause a ULSE murmur with a thrill and RVH on ECG. However, this degree of obstruction would cause shunting from right to left, and this child would be desaturated.- Ventricular septal defect: Isolated ventricular septal defects cause pansystolic murmurs at the left lower sternal edge. They would have left-sided ECG changes and normal saturations (in the absence of pulmonary hypertension).

The median nerve is a peripheral nerve originating in the cervical roots C5–T1 of the brachial plexus. It supplies motor innervation to the anterior forearm flexors, the thenar muscles, and the two lateral lumbricals as well as sensory innervation to the lateral palm and anterior, lateral three and a half fingers. Motor and sensory deficits depend on whether the lesion is proximal (above the elbow) or distal (below the elbow). While proximal lesions present with the “hand of benediction,” distal lesions present with either the “pinch sign” (anterior interosseous nerve syndrome) or, in the case of carpal tunnel syndrome, with mildly impaired thumb and index finger motion. Both proximal lesions and carpal tunnel syndrome result in reduced sensation in the area of the thumb, index and middle finger. Anterior interosseus nerve syndrome does not cause any sensory deficits. Chronic injuries to the nerve result in atrophy of median nerve innervated muscles while acute injuries do not have this feature. Treatment is mostly conservative and focuses on rest and immobilization.

Amoxicillin has high efficacy against haemophilus influenza and streptococcus pneumonia, the most common organisms of otitis media. It is an oral drug with high bioavailability.

Psoriasis is an autoimmune dermatological condition that causes cells of the epidermal layer to rapidly develop, leading to itchy scaly plaques. Phototherapy with UV radiation has emerged as a new treatment for difficult to treat psoriasis. The therapy works by inducing epidermal cell apoptosis by DNA damage through the formation of pyrimidine dimerization, disrupting the cell cycle. This slows the rapid proliferation of cells.

Mongolian spots, otherwise called congenital dermal melanocytosis, are pigmented birthmarks. They are usually located on the buttocks or back and although they’re usually present at birth, they may appear soon after. They are flat and have a blue-grey colour (bruise-like). They are benign and present no health risk.

As this boy has experienced significant dry spells in the past, it is unlikely that a structural abnormality is causing the enuresis. The only therapies that have been shown to be effective in randomized trials are alarm therapy and treatment with desmopressin acetate or imipramine. Bladder training exercises are not recommended. Desmopressin acetate is the preferred medication for treating children with enuresis.

Endothoracic fascia: the connective tissue (fascia) that is between the costal parietal pleura and the inner wall of the chest wall.
Costomediastinal recess: the point where the costal pleura becomes mediastinal pleura.
Costodiaphragmatic recess: is the lowest point of the pleural sac where the costal pleura becomes diaphragmatic pleura.
Cupola: the part of the parietal pleura that extends above the first rib level into the root of the neck.
Costocervical recess: this is a made-up term.
Peritracheal fascia: a layer of connective tissue that invests the trachea.

Trendelenburg gait is an abnormal gait resulting from a defective hip abductor mechanism. The primary musculature involved is the gluteal musculature, including the gluteus medius and gluteus minimus muscles. The weakness of these muscles causes drooping of the pelvis to the contralateral side while walking.Any pathology of the fulcrum, load, effort or the lever which binds all three will lead to a positive Trendelenburg gait.Failure of the fulcrum presents in the following conditions:Osteonecrosis of hipLegg-Calve-Perthes diseaseDevelopmental dysplasia of the hipChronically dislocated hips secondary to traumaChronically dislocated hips secondary to infections like tuberculosis of the hipFailure of the lever is a feature in the following conditions:Greater trochanteric avulsionNon-union of the neck of the femurCoxa VaraFailure of effort presents in the following conditions:PoliomyelitisL5 radiculopathySuperior gluteal nerve damageGluteus medius and minimus tendinitisGluteus medius and minimus abscessPost total hip arthroplastyThe gait of Juvenile idiopathic arthritis patients can be explained as a crouch-like gait with hyperflexion in hip and knee joints and less plantar flexion in the ankle

Hyposplenism usually occurs after the surgical removal of the spleen or in pathological processes where the splenic tissue is replaced with abnormal tissue. It is often associated with diseases such as sickle cell disease, Coeliac disease, SLE and Dermatitis Herpetiformis. Myxoedema however bears no known association with hyposplenism. Patients with hyposplenism are at risk of fulminant bacterial infection.

The sign being elicited in this patient is Nikolsky’s sign. Based on the findings, the patient is suffering from toxic epidermal necrolysis.Nikolskys sign: Rubbing the skin causes exfoliation of the outer layer and usually blistering within a few minutes. Other options:- Cullen’s sign: Periumbilical bruising due to intra-abdominal haemorrhage. If the discolouration is seen in the flanks, it is called Cullen’s sign. Underlying pathology includes ruptured ectopic pregnancy and haemorrhagic pancreatitis. – Forscheimer’s sign: It is a fleeting exanthem that is seen as small, red spots (petechiae) on the soft palate. Associated with rubella and glandular fever. Gorlin’s sign: It is the ability to touch the tip of the nose with the tongue. Increased incidence in children with connective tissue disorder, e.g. Ehler Danlos syndrome. – Auspitzs sign: These are small bleeding points are left behind when psoriatic scales are lifted off. It is not a very sensitive or specific sign. Other cutaneous signs include:- Hair collar sign: It is a collar of hypertrichosis around an area of cranial dysraphism.- Hertoghe’s sign (Queen Anne’s sign): It is the loss of lateral one-third of eye-brows. It is associated with numerous conditions, including lupus, HIV, and hypothyroidism. – Dariers sign: It is the swelling, itching and erythema that occurs after stroking skin lesions of a patient with systemic mastocytosis or urticarial pigmentosa. – Dermatographism: Rubbing the skin causes a raised, urticarial lesion. – Koebners phenomenon: It is the appearance of new skin lesions in areas of trauma.- Breakfast, lunch, and dinner sign: Linear pathway of a group of three to five papules caused by the common bed bug, Cimex lectularius. – Buttonhole sign: In type 1 neurofibromatosis, neurofibromas can be invaginated with the finger back into the subcutis. The nodule will reappear after the release of pressure. The sign is also positive for dermatofibromas. – Crowe’s sign: Axillary freckling seen in type I neurofibromatosis.

Synchronized IMV (SIMV) with pressure support, used in the alert infant. SIMV guarantees a minimum minute volume while allowing the patient to trigger spontaneousbreaths 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 relatedto 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 most important test recommended among the given options is the measurement of creatine kinase levels.The child presents with a gross motor developmental delay, and multiple investigations can be undertaken to confirm the diagnosis. However, the clinching point in the given clinical scenario is the presence of a positive Gower’s sign.Gower’s sign is an excellent screening test for muscle weakness, which is typically observed as an early clinical feature of Duchenne muscular dystrophy (DMD).Creatinine kinase measurement is an easy and rapid test to aid in the diagnosis. Early diagnosis has significant implications not only for the child but for the family, particularly for genetic counselling. DMD is an X-linked recessive disorder, with an abnormal gene at the X chromosome at the Xp21 locus. It is a progressive degenerative muscular condition where muscle fibres are replaced by fat and fibrosis (i.e., become dystrophic).

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.

Coeliac disease is associated with the following conditions:- Dermatitis herpetiformis- Autoimmune disorders (e.g. thyroid disease, pernicious anaemia, diabetes)- IgA deficiency- Small-bowel malignancy, particularly lymphoma, if the gluten-free diet is not followed.Serology testing: The IgA tissue transglutaminase antibody is the most sensitive and specific, compared with the anti-endomysial antibody. However, false negatives will occur in children who are IgA-deficient, and IgA levels should be taken at the same time. Other options:Distal obstruction syndrome, meconium ileus, pancreatitis and rectal prolapse are all gastrointestinal manifestations of cystic fibrosis.

Renal scaring resulting from urinary tract infections can best be determined using Dimercaptosuccinic acid (DMSA) scintigraphy. The scan utilises technetium-99 mixed with the DMSA which is injected into the bloodstream. The radiological dye is taken up by the kidney where it binds to the proximal convoluted tubules. It therefore detects the size, shape and position of the kidney and any scars but is not as useful in assessing dynamic renal excretion. Ultrasound scans are better suited to assess hydronephrosis and dilated ureters. MAG3 scans and MCUG are able to determine the function of kidneys and detect obstructions such as posterior urethral valves and reflux.

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.