how to cite this article: tonekaboni sh. approach to npc disease. iran j child neurol. 2015 autumn;9:4(suppl.1): 7. pls see pdf.

how to cite this article: salehpour sh. diagnostic methods for neimann-pick type c. iran j child neurol. 2015 autumn;9:4(suppl.1): 16-17.   pls see pdf.

how to cite this article: alaei mr. preinatal types of niemann-pick disease type c. iran j child neurol. 2015 autumn;9:4(suppl.1): 12. pls see pdf.

A 15-year old girl with slowly progressive gait and speech disorders, and with impairment of mental ability, is decsribed. The disease appeared 18 months before the first hospitalization at the Department of Neurology and Physchiatry for Children and Young People. Neurological and other examinations confirmed extrapyramidal and cerebellar signs, conspisuous knee and ankle reflexes, marked splen...

A 4-year-old Afghan girl born to consanguineous parents presented with progressive neurological regression and hepatomegaly noticed after one year of age. The child had hypotonia, repeated unexplained falls and facial dyskinesia. Bone marrow examination revealed presence of storage cells suggestive of Gauchers or Niemann Pick. Confirmatory study by lysosomal enzyme from leucocytes was normal fo...

Niemann-Pick disease type C (NPC) is an autosomal recessive neurovisceral lipid storage with a wide spectrum of clinical phenotypes. At the cellular level, the disorder is characterized by accumulation of unesterified cholesterol and glycolipids in the lysosomal/late endosomal system. Approximatively 95% of patients have mutations in the NPC1 gene (mapped at 18q11) which encodes a large membran...