Niemann-Pick Type C disease: A case report

Abstract

Niemann-Pick type C disease (NP-C) is a rare (1 in 120,000 live births), neurovisceral disorder due to massive lysosomal lipid storage. The mode of transmission of NP-C is autosomal, recessive with mutations most often in the NPC1 genes and sometimes in the NPC2 genes. The clinical ndings vary from neonatal period to adulthood and the severity of the disease depends on the neurological involvement. The most characteristic signs are vertical supranuclear gaze palsy, cerebellar ataxia, dysarthria, dysphagia, and progressive dementia. Other common features include cataplexy, epilepsy and dystonia. Comprehensive neurological, ophthal- mological evaluations and primary laboratory investigations are essential to diagnose the condition. The prognosis depends on the age of onset of the neurological manifestations. Symptomatic management of patients is most essential in these cases. This case report aims at proling the characteristic features of the disease in a female child of 9 years and empha- sizes on the utility of augmentative and alternative modes of communication