Vertical gaze palsy- a clue to diagnose a rare neurometabolic disorder
Journal Title: Stanley Medical Journal - Year 2016, Vol 3, Issue 3
Abstract
Nieman Pick disease Type C (NPC) is an autosomal recessive neurometabolic disorder associated with cognitive decline and extrapyramidal features. It is due to abnormalities of intracellular cholesterol metabolism. Sea blue histiocytes in bone marrow aspirate is suggestive. Genetic tests to identify gene mutation and Filipin staining of skin fibroblast are being used to confirm diagnosis. Here we report a child who presented with cognitive decline, seizures and extrapyramidal features where the clinical finding of vertical gaze palsy lead us to diagnose this rare neurometabolic disorder.
Authors and Affiliations
Velusamy S, Uday Srinivas, Krishna Kumar B
Keywords
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