title: Niemann-Pick disease type C: analysis of 7 patients.
abstract: BACKGROUND
  Niemann-Pick disease type C (NP-C), derived from mutation of the NPC1 or NPC2 gene, is one of the recessive lysosomal lipid storage disorders that are difficult to diagnose and treat. Since NP-C has been rarely reported in China, we reviewed 7 patients with NP-C.
  
  
  METHODS
  The 7 patients had been diagnosed with NP-C from 2007 to 2010 at our department and their laboratory and clinical data were analyzed.
  
  
  RESULTS
  The 7 patients, 5 males and 2 females, included 4 patients of late infantile subtype and 3 patients of juvenile subtype, in which patients 2 and 3 were siblings. Their clinical symptoms occurred from 4 to 10 years of age, exhibiting as progressive cognitive and language impairment as well as motor retrogression. Six patients were caught by focal or generalized seizures from 1 to 4 years after the onset of the disease. Vertical supranuclear gaze palsy, dysarthria, dysphagia, internal rotation and adduction of bilateral hands and splenomegaly occurred following the progress of clinical symptoms. Five patients had laughter-cataplexy. MRI showed mild brain atrophy in 6 patients. Reduction of total cholesterol, high density lipoprotein cholesterol and low density lipoprotein cholesterol occurred in 6 patients. Sea-blue cells and Niemann-Pick cells were found in bone marrow smears. The activity of acid sphingomyelin enzyme was normal or only slightly lower. Supporting or symptomatic treatment improved common clinical symptoms.
  
  
  CONCLUSIONS
  NP-C is a rare autosomal recessive inherited lysosomal storage disease that affects the intellectual development of children and may lead to dementia, vegetative state or death. Clinical features of this disease include vertical supranuclear gaze palsy, seizures and cataplexy. Laboratory features include abnormal plasma cholesterol level, and sea-blue cells and Niemann-Pick cells in bone marrow smears. The treatments of the disease include supporting or symptomatic administration.
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.
authors.forename: Hui
authors.initials: H
authors.lastname: Xiong
authors.forename: Xin-Hua
authors.initials: XH
authors.lastname: Bao
authors.forename: Yue-Hua
authors.initials: YH
authors.lastname: Zhang
authors.forename: You-Ning
authors.initials: YN
authors.lastname: Xu
authors.forename: Jiong
authors.initials: J
authors.lastname: Qin
authors.forename: Hui-Ping
authors.initials: HP
authors.lastname: Shi
authors.forename: Xi-Ru
authors.initials: XR
authors.lastname: Wu
mesh_terms: D000293:Adolescent; D015415:Biomarkers / Q000097:blood; D001853:Bone Marrow / Q000473:pathology; D002352:Carrier Proteins / Q000097:blood*; D002648:Child; D002675:Child, Preschool; D002681:China; D003937:Diagnosis, Differential; D018450:Disease Progression; D005260:Female; D005500:Follow-Up Studies; D006023:Glycoproteins / Q000097:blood*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D008562:Membrane Glycoproteins / Q000097:blood*; D009154:Mutation; D000077296:Niemann-Pick C1 Protein; D052556:Niemann-Pick Disease, Type C / Q000235:genetics* / Q000378:metabolism / Q000473:pathology* / Q000628:therapy; D010641:Phenotype; D012189:Retrospective Studies; D035781:Siblings; D013163:Splenomegaly / Q000235:genetics; D033921:Vesicular Transport Proteins
chemical_list: D015415:Biomarkers; D002352:Carrier Proteins; D006023:Glycoproteins; D047908:Intracellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins; C106881:NPC1 protein, human; C104585:NPC2 protein, human; D000077296:Niemann-Pick C1 Protein; D033921:Vesicular Transport Proteins