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Pathology

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Miscellaneous

Question
15 out of 28
 

Seizure with mental retardation and sebaceous adenoma the diagnosis is: (AIPG 2012)



A Hypothyroid
B Tuberous sclerosis

C Toxoplasmosis
D Down syndrome

Ans. B Tuberous sclerosis

a. Autosomal dominant disease characterized by mental retardation and seizures

b. Onset in infancy and childhood

c. Affect skin, brain, heart, kidney, eye, lung and bone

d. Tubers may be (absent upto 3-4 yr) in subependymal region calcify and project in ventricle as candle dripping

e. There is shagreen patch (lumbosacral), pancreatic cysts, infantile spasms and hypsarrthmic EEG

f. Associates may also be angiomyolipoma in kidney and lung

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