robin082006
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A 5-year-old girl is brought to the ER for sudden onset of weakness on the left side of the body along with slurring of the speech. On further questioning, the parents say that she was playing with her toys just before the incident, and deny any trauma to the head. Her medical history is unremarkable. You note that the patient has a fair hair and skin with blue eyes; she is tall for her age and has long and emaciated arms and legs, and arachnodactyly. On examination, you note brisk deep tendon reflexes and positive Babinski sign in the left side. Growth curve is below the 5th percentile and developmental milestones are delayed for age. Musculoskeletal examination reveals hyperlaxity of the skin and joints, and mild scoliosis. Which of the following is the most likely diagnosis?
A. Phenylalanine hydroxylase deficiency
B. Cystathionine synthase deficiency
C. Beta-galactosidase deficiency
D. Marfan syndrome
E. Tay Sach's disease
F. Sickle cell disease
G. Fabry's disease
H. Arteriovenous malformation
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| sarika
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Marfan syndrome unless there is a catch 
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| young_doc
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tall for her age, yet below 5th percentile on growth curve?
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| prathapdoctor
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why cant it be Cystathione Beta synthase def leading to homocystinemia,which increases the risk for thrombosis leading to stroke,I dont think we see laxity of skin in marfans but i cant rule out marfans either but what could be the cause for stroke in case of marfans,thats why i will go with homocystinemia.please put your views guys.
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| sarika
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u r right prathapdoctor ....it is Cystathionine synthase deficiency ...d/t thromboembolism
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| webjeee
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according to emedicine:
Signs of Marfan syndrome, such as thin and long extremities, arachnodactylia, kyphoscoliosis, and deformations of the thorax, may be present in Cystathionine synthase deficiency.
I just have question about the fair hair and skin, seems like Phenylalanine hydroxylase deficiency.
Then found that in cystathionine synthase deficiency, DL-homocysteine inhibits tyrosinase, the major pigment enzyme. Hypopigmentation may be reversible in patients with pyridoxine-responsive homocystinuria.
what a tricky question
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| robin082006
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YOU GOT IT, ANSWER IS B
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