Megalencephaly is commonly seen in ______
Correct Answer: Tay-Sach's disease
Description: Tay sachs disease:- Autosomal recessive. Low serum beta-hexosaminidase level is the characteristic metabolic defect. As a result GM2 ganglioside accumulates in the neurons. Initially milestones are delayed. Later there is regression of development and death occurs by 2-4 years. The baby has an abnormal stale to response. Convulsions, rigidity of extensor group of muscles and blindness supervene after the first year. A cherry red spot seen over the macular region of retina. The head size increases. Liver and spleen not enlarged. Reference: GHAI essential Paediatrics
Category:
Pediatrics
Get More
Subject Mock Tests
Practice with over 200,000 questions from various medical subjects and improve your knowledge.
Attempt a mock test nowMock Exam
Take an exam with 100 random questions selected from all subjects to test your knowledge.
Coming SoonGet More
Subject Mock Tests
Try practicing mock tests with over 200,000 questions from various medical subjects.
Attempt a mock test now