Case studies

Tay-Sachs disease- a case based discussion

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Case details A boy was born normal but started flinching at loud noises (enhanced startle response) at the age of 6 months. The child initially could sit up but then regressed so that he could not roll over or recognize his parents. Ophthalmological examination revealed a central red area of the retina surrounded by white […]

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Case study- Gaucher disease

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Case Details A 25 –year-old woman presents, with a history that includes- a) Hepatosplenomegaly with eventual removal of the spleen b) Bone and joint pains with several fractures of the femur. c) A liver biopsy that shows wrinkled-looking cells with an accumulation of Glucosyl ceramide, What would be the likely diagnosis for this patient? Case

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