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Question 1
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An 8-week-old baby was found to have bilateral cataracts. Further investigation revealed thrombocytopenia, a patent ductus arteriosus and hepatosplenomegaly. Which of the following is the most probable diagnosis?
Your Answer: Rubella
Explanation:The clinical presentation is suggestive of congenital rubella syndrome. The classic triad of presenting symptoms includes sensorineural hearing loss, ocular abnormalities (cataract, infantile glaucoma, and pigmentary retinopathy) and congenital heart disease (patent ductus arteriosus and pulmonary artery stenosis). Other findings in congenital rubella syndrome include CNS abnormalities (mental retardation, behavioural disorders, encephalographic abnormalities, hypotonia, meningoencephalitis, and microcephaly), hepatosplenomegaly, and jaundice.
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This question is part of the following fields:
- Infectious Diseases
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Question 2
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A mother brings her 4-year-old boy who is known to have Down's syndrome to the outpatient clinic as she is concerned about his vision. Which one of the following eye problems is least associated with Down's syndrome?
Your Answer: Retinal detachment
Explanation:Individuals with Down syndrome are at increased risk for a variety of eye and vision disorders. Fortunately, many of these eye problems can be treated, especially if discovered at an early age. The quality of life can be further enhanced by the proper assessment and correction of eye problems. The most common eye findings include:- Refractive errors – Children with Down syndrome are more likely to need glasses than are other children. This may be due to myopia (near-sightedness), hyperopia (far-sightedness), and/or astigmatism. Refractive error may develop early in life or later on.- Strabismus – Between 20% and 60% of individuals with Down syndrome have eyes that are misaligned (strabismus). Esotropia (eyes that drift in) is most common while exotropia(eyes that drift out) occurs less frequently. Strabismus may be treated with glasses, patching and/or eye muscle surgery.- Keratoconus – A cone shaped distortion of the cornea (front layer of the eye), occurs in up to 30% of those with Down syndrome. Keratoconus is usually diagnosed around puberty and should be monitored regularly. Blurred vision, corneal thinning, or corneal haze may result from keratoconus. Keratoconus is worsened by eye rubbing| therefore, eye rubbing should be discouraged.- Cataracts – There is an increased incidence of congenital cataracts (present at birth) as well as acquired cataracts (develop later). Cataracts may progress slowly and should be monitored regularly, with surgical treatment performed when appropriate.- Glaucoma- There is an increased risk of infantile glaucoma (elevated pressure within the eye).- Blepharitis – Inflammation of the eyelids with redness at the edge of the lids and crusting around the lashes may occur and cause a feeling of dryness or burning. Treatment is with eyelid hygiene and topical antibiotics.- Tearing – Excessive tears or watering of the eyes may occur because the drainage channels are blocked or narrow (nasolacrimal duct obstruction). This may require surgical intervention.- Nystagmus – This is an involuntary “back-and-forth” movement or shaking of the eyes. It can affect vision to a mild or severe degree.
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This question is part of the following fields:
- Genetics And Dysmorphology
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Question 3
Correct
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A 16 year old girl with a history of diabetes presents with a vaginal discharge that is white and thick. She also complains of vaginal itchiness. Doctors suspect candidiasis and start her on clotrimazole. How does this drug work?
Your Answer: Decreases ergosterol biosynthesis, increasing membrane permeability and disrupting membrane-bound enzyme systems
Explanation:Clotrimazole interferes with the ergosterol biosynthesis by decreasing ergosteron I biosynthesis, increasing membrane permeability, and disrupting membrane-bound enzyme systems.Vaginal candidiasis is an extremely common condition. Predisposing factors include:- diabetes mellitus- drugs: antibiotics, steroids- pregnancy- immunosuppression – iatrogenic
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This question is part of the following fields:
- Adolescent Health
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Question 4
Correct
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Which of the following findings is consistent with autism?
Your Answer: Macrocephaly
Explanation:Autism is a neurodevelopmental disorder characterized by difficulties with social interaction, language delays, and some repetitive behaviours. Autism may be associated with some dysmorphic facial features, including macrocephaly, which denotes an abnormally large head. Macrocephaly is usually most observable during early childhood. The other features mentioned are not found to be associated with autism.
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This question is part of the following fields:
- Neurology And Neurodisability
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Question 5
Incorrect
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Angelman’s syndrome is characterized by a gene deletion in which of the following chromosomes?
Your Answer:
Correct Answer: Chromosome 15
Explanation:Angelman Syndrome is a genetic disorder that affects the nervous system. The features of this condition include intellectual disability, a delay in developmental milestones, and movement disorders. The features occur as a result of the deletion or mutation of the maternal copy of the UBE3A gene located on Chromosome 15q. Though individuals usually inherit one copy of this gene from each parent, only the maternal gene remains active in parts of the brain. This phenomenon is known as genetic imprinting, and is also seen in Prader-Willi syndrome.
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This question is part of the following fields:
- Genetics And Dysmorphology
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Question 6
Incorrect
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In Psoriasis, the following is true with regards to topical treatment:
Your Answer:
Correct Answer: Topical corticosteroid associated side effects include striae, atrophy of the skin, telangiectasia, acneiform rash, and easy bruising
Explanation:Topical treatments are useful in the treatment of mild Psoriasis, or as adjuvant therapy in ultraviolet and systematic treatments. These treatments include moisturisers, dithranol, coal tar, salicylic acid, topical immunomodulators such as calcineurin, topical retinoids, Vitamin D analogues and topical steroids. Topical steroids are known to have a number of side effects such as striae, atrophy of the skin, telangiectasia, acneiform rash, and easy bruising. Localised pustular psoriasis is also associated with topical steroids in higher doses. Use of more than 500 g of hydrocortisone or 50 g clobetasol propionate have been shown to suppress adrenal function. Calcitriol, a vitamin D analogue, is only available as an ointment and does not stain clothes and skin the way dithranol and coal tar are known to.
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This question is part of the following fields:
- Dermatology
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Question 7
Incorrect
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A 6-year-old girl is brought to the hospital by concerned parents. The teachers of her school have brought to their attention that she struggles to see the whiteboard in class. The parents have also noticed that she has difficulty when looking at the computer.Except for being a nervous reader at times, the parents haven't noticed anything else unusual. She's otherwise healthy and plays well with her friends.What is the most probable diagnosis for this child?
Your Answer:
Correct Answer: Refractive error
Explanation:Based on the presentation, the child most probably is suffering from a refractive error.Astigmatism, myopia and high hypermetropia could all cause these symptoms. This child has difficulty in using vision for finer tasks such as reading. Mild to moderate refractive error would not impair the child’s ability to play or even watch television as for the child in question. Note: Refractive error is the most common treatable cause of reduced vision in children all over the world! Other options:- A congenital cataract is rare and retinal dystrophy is even rarer. – Amblyopia would suggest poor vision in only one eye, something that might not cause symptoms in this age group. – Parents or teachers would have probably noticed squint if it was present.
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This question is part of the following fields:
- Ophthalmology
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Question 8
Incorrect
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A 15-day old baby was brought to the emergency department with constipation for 4 days. On examination, the abdomen of the baby was found to be distended and tender all over. No bowel sounds were heard. A sigmoid colon biopsy was carried out, which showed absent ganglion cells. What is the diagnosis?
Your Answer:
Correct Answer: Hirschsprung’s disease
Explanation: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.
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This question is part of the following fields:
- Gastroenterology And Hepatology
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Question 9
Incorrect
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A 6 year old boy is admitted following a motor vehicle collision (MVC). He presents with tachycardia and it is indicated that he might be in shock. Upon immediate management with fluid bolus, his condition becomes improves, only to worsen again after a while, as he becomes more tachycardia and his pulse pressure starts decreasing. Which of the following is the most probably cause of shock?
Your Answer:
Correct Answer: Abdominal trauma
Explanation:Internal abdominal bleeding is most probably the cause of the child’s shock, especially unresponsive to fluid boluses.
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This question is part of the following fields:
- Emergency Medicine
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Question 10
Incorrect
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A 7 day old male infant, born at term, presents with umbilical bruising and bleeding. History reveals he wasn’t given vitamin K after birth. Blood exam is normal but with a high prothrombin time and activated partial thromboplastin time. What is the most appropriate treatment?
Your Answer:
Correct Answer: Intravenous vitamin K plus fresh frozen plasma
Explanation:The clinical picture suggests a vitamin K deficiency haemorrhagic disease of the new-born and requires IV vitamin K and fresh frozen plasma. This usually presents with gastrointestinal bleeding, bleeding from the umbilical stump and bruising after 2–7 days.
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This question is part of the following fields:
- Neonatology
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