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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2019.1
- 수록면
- 621 - 624 (4page)
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초록· 키워드
오류제보하기
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 27-month-old girl with NP-C whose condition had been misdiagnosed as spastic cerebral palsy (CP). She had spasticity, particularly at both ankles, and gait disturbance. Magnetic resonance imaging of the brain revealed findings suspicious of sequelae from a previous insult, such as periventricular leukomalacia, leading to the diagnosis of CP. However, she had a history of hepatosplenomegaly when she was a fetus and her motor development had deteriorated, with symptoms of vertical supranuclear gaze palsy, cataplexy, and ataxia developing gradually. Therefore, NP-C was considered and confirmed with a genetic study, which showed mutation of the NPC1 gene. Thus, if a child with CP-like symptoms presents with a deteriorating course and NP-C-specific symptoms, NP-C should be cautiously considered.
목차
등록된 정보가 없습니다.
참고문헌 (10)
참고문헌 신청
Patterson MC / 2012 / Recommendations for the diagnosis and management of Niemann-Pick disease type C : an update / Mol Genet Metab 106:330~344
Lloyd-Evans E / 2010 / Lipids on trial : the search for the offending metabolite in Niemann-Pick type C disease / Traffic 11:419~428
Vanier MT / 2010 / Niemann-Pick disease type C / Orphanet J Rare Dis 5:16
Rosenbaum P / 2007 / A report : the definition and classification of cerebral palsy April 2006 / Dev Med Child Neurol Suppl 109:8~14
Wijburg FA / 2012 / Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C / Neurology 78:1560~1567
Lloyd-Evans E / 2010 / Lipids on trial : the search for the offending metabolite in Niemann-Pick type C disease / Traffic 11:419~428
Vanier MT / 2010 / Niemann-Pick disease type C / Orphanet J Rare Dis 5:16
Rosenbaum P / 2007 / A report : the definition and classification of cerebral palsy April 2006 / Dev Med Child Neurol Suppl 109:8~14
Wijburg FA / 2012 / Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C / Neurology 78:1560~1567
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