RESUMO
The clinical data and genetic results of a case of Xinjiang Kazakh adolescent Niemann-Pick disease type C (NPC) with neurological lesions as the first and main clinical manifestations were analyzed, and the literatures at home and abroad were reviewed and summarized. The main clinical manifestations of the patient were unstable walking, frequent falls, slow progression of the disease, difficulty in independent walking, and involuntary movements of the limbs and face, inability to concentrate and dysarthria. Skull MRI revealed abnormal signals in the posterior horn of bilateral lateral ventricles. Abdominal ultrasound splenomegaly was found. Niemann-Pick cells and navy tissue cells were seen in the bone marrow smear. The result of the patient gene sequencing showed that the exon 23 in NPC1 gene had a homozygous mutation c.3493G>A (p.V1165M), which was a missense mutation;the patient′s father and mother performed Sanger generation sequencing verification and were found that they all carried the disease-causing mutation. NPC is a rare autosomal recessive lysosomal storage disease with no specific clinical symptoms. For adolescents with ataxia, dystonia, or psychiatric symptoms, there is a high degree of suspicion of NPC when there is isolated splenomegaly and no liver disease.