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Pathology

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Genetics

Question
3 out of 18
 

All are true about Gaucher disease except: (LQ)



A Type 1 is non-neuronopathic

B Type 2 is neuronopathic

C Gaucher cells have fibrillary cytoplasm compared to as crumpled tissue paper

D On E/M, concentric lamellated myelin figures or zebra bodies are seen

Ans. D On E/M, concentric lamellated myelin figures or zebra bodies are seen

On electron microscopy the fibrillary cytoplasm can be resolved as elongated, distended lysosomes, containing the stored lipid in stacks of bilayers whereas in Niemann- Pick disease, sometimes the lysosomal configurations take the form of parallel palisaded lamellae, creating so called zebra bodies

Genetics Flashcard List

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