47,XYY syndrome is characterized by an extra copy of the Y chromosome in each of a male’s cells. Although many males with this condition are taller than average, the chromosomal change sometimes causes no unusual physical features. Most males with 47,XYY syndrome have normal production of the male sex hormone testosterone and normal sexual development, and they are usually able to father children.47,XYY syndrome is associated with an increased risk of learning disabilities and delayed development of speech and language skills. Affected boys can have delayed development of motor skills or hypotonia.Other signs and symptoms of this condition include hand tremors or other involuntary movements (motor tics), seizures, and asthma. Males with 47,XYY syndrome have an increased risk of behavioural, social, and emotional difficulties compared with their unaffected peers. These problems include attention-deficit/hyperactivity disorder (ADHD); depression; anxiety; and autism spectrum disorder.Physical features related to 47,XYY syndrome can include increased belly fat, macrocephaly, macrodontia, flat feet (pes planus), fifth fingers that curve inward (clinodactyly), widely spaced eyes (ocular hypertelorism), and scoliosis. These characteristics vary widely among affected boys and men.

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

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.

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.

A drooping eyelid is called ptosis or blepharoptosis. In ptosis, the upper eyelid falls to a position that is lower than normal. Severe ptosis may cover part or all of the pupil and interfere with vision, resulting in amblyopia.Visual development in a child can be permanently impaired when there is deprivation of visual stimulation or when the oculomotor function is impaired. Congenital ptosis can represent both these components

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

Pityriasis rosea is a common, acute exanthem of uncertain aetiology. Viral and bacterial causes have been sought, but convincing answers have not yet been found. Pityriasis rosea typically affects children and young adults. It is characterized by an initial herald patch, followed by the development of a diffuse papulosquamous rash. The herald patch often is misdiagnosed as eczema. Pityriasis rosea is difficult to identify until the appearance of characteristic smaller secondary lesions that follow Langer’s lines (cleavage lines). Several medications can cause a rash similar to pityriasis rosea, and several diseases, including secondary syphilis, are included in the differential diagnosis. Typically, only symptomatic treatment of pruritus with lotions, oral antihistamines, and/or a short course of topical steroids is necessary.

Most infants have a good heart rate after birth and establish breathing by about 90 s. If the infant is not breathing adequately aerate the lungs by giving 5 inflation breaths, preferably using air. Until now the infant’s lungs will have been filled with fluid.

The deep peroneal nerve lies in the anterior muscular compartment of the lower leg and can be compromised by compartment syndrome affecting this area. It provides cutaneous sensation to the first web space. The superficial peroneal nerve provides more lateral cutaneous innervation.Origin: It originates from the common peroneal nerve, at the lateral aspect of the fibula, deep to peroneus longus. Root values of common peroneal nerve: L4, L5, S1, and S2.Course and relation: It pierces the anterior intermuscular septum to enter the anterior compartment of the lower leg. Following which, it passes anteriorly down to the ankle joint, midway between the two malleoli. It terminates in the dorsum of the foot.Throughout the course it innervates:- Tibialis anterior- Extensor hallucis longus- Extensor digitorum longus- Peroneus tertius- Extensor digitorum brevisAt its termination, it innervates the skin in the web space between the first and second toes.Actions performed by the muscles supplied by the nerve:- Dorsiflexion of ankle joint- Extension of all toes- Inversion of the foot

The submandibular glands provide the bulk of salivary secretions contributing close to 70%. The sublingual glands provide 5% and the remainder from the parotid.

A peripheral blood film in iron deficiency anaemia can reveal the following morphologically variant RBCs:- Microcytic cells- Hypochromic cells- Pencil cells- Target cellsOther 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-thalassaemiaSchistocytes (‘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

As there is lymphadenopathy already present in this patient, doing a biopsy of the lymph nodes will rule out metastasis of any underlying tumour.

Neurofibromatosis is a genetic disease caused by the mutation of the neurofibromin gene on Chromosome 17. The diagnostic criteria for Neurofibromatosis type 1 are two or more of the following:-6 or more cafe au lait macules-2 or more cutaneous neurofibroma or one plexiform Neurofibroma-Axillary of groin freckling -Optic pathway glioma -2 or more Lisch nodules (hamartomas of the iris seen on slit lamp examination)-Bony dysplasia (such as sphenoid wing dysplasia, bowing of the long bones, or pseudarthrosis)-First degree relative with neurofibromatosis type 1

The patient is most likely suffering from obstructive jaundice. Ultrasound of the abdomen is the superior diagnostic tool in detecting and assessing biliary system obstruction, because it is easy, available, accurate and non-invasive.

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.

Generally, bed-wetting before age 7 isn’t a concern as the child may still be developing night-time bladder control. The child is less than 5 years and most children will outgrow bed-wetting on their own. Therefore only reassurance and behavioural therapy are suggested at this stage.

The management of cystic fibrosis requires a multidisciplinary approach, starting with a planned diet.The critical points of this management approach are:Chest physiotherapy and postural drainage – the parents are usually taught to do this.Deep breathing exercises,High calorie, high fat intake with vitamin supplementation.Pancreatic enzyme supplements with meals.Heart-lung transplantation would be the definitive treatment.Note: Previously, a high-calorie, low-fat diet was recommended to reduce steatorrhea. However, it is no longer the desired approach.

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

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

USG of the scrotum is important to exclude any abnormality with testicles, epididymis and scrotum. This presentation can be acute epididymo-orchitis or testicular torsion. USG of the scrotum will help to confirm the diagnosis.

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 chromatographyOther 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

Advancing paternal age has been linked with lower quality sperm leading to a reduction in overall fertility and an increase in the occurrence of various medical disorders in the fetus. Advanced paternal age has been implicated as a risk factor for diseases like retinoblastoma, achondroplasia, autism spectrum disorders, schizophrenia, and acute lymphoblastic leukaemia. Down’s syndrome is mostly considered a consequence of advanced maternal age, but advanced paternal age has also been implicated as a risk factor.

The most appropriate diagnosis for this patient is appendicular mass. The initial treatment, according to the Ochsner-Sherren regimen recommended by Hamilton Bailey, would be the initiation of intravenous antibiotics.RationaleThe presentation is highly suggestive of appendicular mass. The correct management is broad-spectrum intravenous antibiotics such as co-amoxiclav and amikacin plus observation. Conservative management is the preferred treatment as surgical exploration at this stage can result in increased morbidity.The child should be allowed to eat and drink. If there are on-going temperature spikes, signs of obstruction or severe colicky abdominal pain, then surgery is required. The majority of patients respond to conservative management.Other options:- This is a partially treated appendicitis which has formed an appendix mass. Rather than planning appendectomy immediately; Hamilton Bailey recommended interval appendectomy after 6 weeks post-discharge. However, the need for interval appendectomy is still under debate.- Drainage via interventional radiology is not recommended in this patient as it can lead to swinging pyrexia secondary to peritonitis secondary to the collection.- The patient would have high-grade pyrexia and be constitutionally unwell if the patient was a patient of pyelonephritis. The presentation of the patient is more suggestive of appendicular mass.- The history would be more extended with symptoms of weight loss and altered bowel habit if the patient had Crohn’s disease.

According to the NICE guidelines, the frequency of stool passage is considered constipation when two or more of the following findings are present: Fewer than 3 stools a week, large hard stools, stools that resemble rabbit droppings; symptoms associated with defecation including distress, bleeding or straining; a history of previous episodes of a precious/current anal fissure. The child in the scenario fails to meet the criteria, and has no evidence of impacted faeces on examination. The best course of action is to encourage the parents to give the child more water to prevent dehydration, and feed the child a fibre rich diet including fruits, vegetables and high fibre bread.

Vesicoureteric reflex (VUR) is described as the retrograde flow of urine from the bladder into the ureter due to an incompetent uterovesical junction. In primary VUR the lower urinary tract functions normally, while secondary VUR is associated with a poorly functioning lower urinary tract. The incidence of VUR is highest in new-born girls. They can present with hydronephrosis, or urinary tract infections.

The most probable diagnosis for this patient would be Kawasaki disease.Kawasaki disease:It is an acute systemic disorder of childhood that predominantly occurs in Japan (800 cases per million in children under the age of 5 years). The causative factor is not known, but mycoplasma and HIV infection may be associated in some cases. Clinical Features:The principal clinical features are fever persisting for more than five days, bilateral non-purulent conjunctival congestion, cervical lymphadenopathy, polymorphous rash, arthralgia, palmar erythema and strawberry tongue. Other options:- Diffuse cutaneous systemic sclerosis is associated with skin, renal and gut involvement. Arthralgia, morning stiffness and flexor tenosynovitis are common. – Behcet syndrome is a vasculitis of unknown aetiology that characteristically targets venules. – Felty syndrome is the association of splenomegaly and neutropenia with rheumatoid arthritis. Lymphadenopathy is common, and there is a predisposition to recurrent infections.

Neurofibromatosis type 2, also known as schwannomin, is an autosomal dominant genetic disease caused by mutation of the merlin gene located on chromosome 22. Merlin is a tumour suppressor protein, which is responsible for controlling cell shape, growth and adhesion, and is predominantly found in nervous tissue. Its mutation increases the risk of tumour development especially bilateral vestibular schwannomas, the hallmark of neurofibromatosis 2.

Coarctation of the aorta is one of the serious forms of congenital heart diseases Occurring in about 1 in 2,500 births. It is characterized by a congenitally narrowed proximal thoracic aorta. Coarctation can occur in isolation but can accompany other cardiac lesions, including a bicuspid aortic valve in 70% of the cases and berry aneurysms in 10% of the cases. Coarctation of the aorta is commonly found in association with Turner’s syndrome, Edward’s syndrome, and Patau syndrome.

Jaundice is considered pathologic if it presents within the first 24 hours after birth. Although up to 60 percent of term new-borns have clinical jaundice in the first week of life, few have significant underlying disease.1,2 However, hyperbilirubinemia in the new-born period can be associated with severe illnesses such as haemolytic disease, metabolic and endocrine disorders, anatomic abnormalities of the liver, and infections. The risk factors here is the mothers blood ground which suggests the cause is fetal-maternal blood group incompatibility.

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.