01767caa a2200193   4500008004100000022001400041100001600055245004700071260005300118270004700171270002500218300001000243490001400253520108300267653008301350700001601433773005501449856006901504210621s9999    xx            000 0 und d  a2582-4961  aPrathima, S 0aNiemann-Pick Type C disease: A case report  bAll India Institute of Speech and Hearing c2014  aAll India Institute of Speech and Hearing   mprathi.slp@gmail.com  a88-91  vVolume 33  aNiemann-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  aSupranuclear gaze palsy, profiling, augmentative, alternative, speech-language  aPriya, M.B   aJournal of All India Institute of Speech & Hearing  uhttp://192.168.102.7/jaiish/index.php/aiish/article/view/804/494