Objective: We present a case  Juvenile-Onset Niemann–Pick Disease Type C (NPC) who Presented to us with progressive Dystonia- Ataxia syndrome.

Background: Niemann–Pick disease type C (NPC) is a rare autosomal recessive lysosomal lipid storage disorder caused by mutations in the NPC1 or NPC2 gene. Juvenile-onset NPC commonly presents with progressive neurodegeneration characterized by vertical supranuclear gaze palsy (VSGP), dystonia, cerebellar ataxia, and cognitive decline

Method: A  case of Genetically proven Juvenile-Onset Niemann–Pick Disease Type C has been taken in this case report. Clinical and biochemical parameters of patient were taken. Ultasongraphy of abdome and bone marrow biopsy were done. Mri brain  and whole genome sequencing were done.

Results: An 8-year-old male, born to non-consanguineous parents, presented with progressive difficulty in walking for six months. He developed dragging of one leg, imbalance, slurred speech, and difficulty in eating. Neurological examination revealed generalized dystonia, cerebellar signs, dysarthria, and vertical supranuclear gaze restriction. Motor strength was relatively preserved. Abdominal ultrasonography demonstrated mild splenomegaly. Family history was significant for an elder sibling with similar illness who died of respiratory complications without definitive diagnosis.MRI brain revealed mild symmetrical T2/FLAIR hyperintensities involving bilateral peritrigonal and posterior periventricular white matter with mild thinning of the posterior corpus callosum and prominent ventricular trigones. Whole exome sequencing identified a heterozygous likely pathogenic variant in the NPC1 gene (c.873G>A; p.Trp291Ter).

Conclusion: This case highlights that one should have high suspicision for NPC disease when a child presents with progressive dystonia -ataxia syndrome with vertical gaze restriction.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/genetically-proven-juvenile-onset-niemann-pick-disease-type-c-presenting-with-dystonia-ataxia-syndrome/