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Niemann-Pick Disease Type C Misdiagnosed as Cerebral Palsy: A Case Report

Ko EJ, Sung IY, Yoo HW

Niemann-Pick disease type C (NP-C) is a rare autosomal recessive neurovisceral lysosomal lipid storage disorder. The clinical manifestations of the disorder are variable. This report describes the case of a...
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In Vivo Assessment of Neurodegeneration in Type C Niemann-Pick Disease by IDEAL-IQ

Guo RM, Li QL, Luo ZX, Tang W, Jiao J, Wang J, Kang Z, Chen SQ, Zhang Y

OBJECTIVE: To noninvasively assess the neurodegenerative changes in the brain of patients with Niemann-Pick type C (NPC) disease by measuring the lesion tissue with the iterative decomposition of water and...
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Stem Cells and Niemann Pick Disease

Andolina M

  • KMID: 2054557
  • Int J Stem Cells.
  • 2014 May;7(1):30-32.
BACKGROUND AND OBJECTIVES: Niemann Pick A disease causes a progressive accumulation of sphyngomyelin in several organs and the survival of the patients is usually limited to three years. We describe...
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An Anesthetic Experience in a Patient with Niemann-Pick Disease: A case report

Lee JH, Jung WS, Lee HY, Kim AR, Yoon HS, Go YK

Niemann-Pick disease (NPD) is an autosomal recessive, lipid storage disorder caused by the deficiency of the lysosomal enzyme sphingomyelinase or defective cholesterol transport from lysosome to cytosol. The clinical symptoms...
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Molecular diagnosis of Niemann-Pick type C presenting with neonatal cholestasis and hepatosplenomegaly

Jeong MH, Ko JM, Kim GH, Yoo HW

  • KMID: 2288524
  • J Genet Med.
  • 2007 Dec;4(2):200-203.
Niemann-Pick type C is an inborn error of metabolism that affects lipid degradation and storage, which is characterized by hepatosplenomegaly and progressive neurological symptoms. A 7-month-old girl with jaundice was...
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A case of Niemann-Pick disease type A

Yu HY, Oh JE, Park JS, Kim MH, Kim SD, Jung KS

Niemann-Pick disease is a group of autosomal recessive disorders associated with hepatosplenomegaly, variable neurologic deficits, and the storage of sphingomyelin and other lipids. Seven cases have been reported in Korea....
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Sphingolipidoses

Yoo HW

  • KMID: 2168069
  • Hanyang Med Rev.
  • 2005 Aug;25(3):19-26.
Sphingolipidoses are a subgroup of lysosomal storage disorders. They are characterized by relentless progressive storage in affected organs and concomitant functional impairments. No overall screening procedure for these disorders is...
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Three-year Follow-up of Niemann-Pick Disease with Pulmonary Involvement: A Case Report

Lee CW, Goo HW

Niemann-Pick disease is a rare inherited metabolic storage disease that causes excessive intracellular storage of sphingomyelin in various organs. We present the pulmonary imaging findings with particular emphasis on the...
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A Case of Type A Niemann-Pick Disease

Jeon EY, Choi KA, Koo CH, Lee WM, Jeon YS, Lee CH, Suh KS, Lee SK

  • KMID: 2335319
  • J Korean Pediatr Soc.
  • 1998 Feb;41(2):275-280.
Niemann-Pick disease is a storage disease characterized by accumulation of sphingomyelin and other lipids, mainly in the reticuloendothelial system. We experienced a case of type A Niemann-Pick disease in a...
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A Case of Niemann-Pick Disease with Sea-Blue histiocytes in the Bone Marrow

Kim YS, Lim SH, Seo JK, Ahn HS, Moon HR

  • KMID: 1676446
  • J Korean Pediatr Soc.
  • 1985 Dec;28(12):1238-1244.
No abstract available.
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A Case of Niemann Pick Disease

Kim SH, Choi YJ, Kim IH, Kim SW

  • KMID: 1699058
  • J Korean Pediatr Soc.
  • 1983 Oct;26(10):1039-1043.
No abstract available.
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