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J Med Case Rep. 2012 Nov 12;6:383. doi: 10.1186/1752-1947-6-383.

Use of miglustat in a child with late-infantile-onset Niemann-Pick disease type C and frequent seizures: a case report.

Author information

  • 1Department of Paediatric Medicine, Ålesund Hospital, Child Habilitation Unit, N-6026, Ålesund, Norway. johannes.skorpen@helse-mr.no.

Abstract

INTRODUCTION:

Niemann-Pick disease type C is a rare genetic lysosomal storage disease associated with impaired intracellular lipid trafficking and a range of progressive neurological manifestations. The influence of seizure activity on disease course and response to miglustat therapy is not currently clear.

CASE PRESENTATION:

Niemann-Pick disease type C homozygous for NPC1 mutation p.S940L [c. 2819 C>T] was diagnosed in a four-and-a-half-year-old Norwegian Caucasian girl. The patient, who died at eight years and seven months of age, had a history of prolonged neonatal jaundice and subsequently displayed progressive neurological manifestations that started with delayed speech, ataxia, and gelastic cataplexy. A regimen of 100mg of miglustat three times a day was initiated when she was four years and 11 months old. She showed decreased neurological deterioration during about three and a half years of treatment. However, she displayed periods of distinct worsening that coincided with frequent epileptic seizures. Anti-epileptic therapy reduced seizure frequency and severity and allowed re-stabilization of her neurological function. Prior to her death, which was possibly due to acute cardiac arrest, seizure activity was well controlled.

CONCLUSIONS:

Miglustat delayed the expected deterioration of neurological function in this patient with p.S940L-homozygous late-infantile-onset Niemann-Pick disease type C and provided important quality-of-life benefits. This case demonstrates the importance of effective seizure control therapy in achieving and maintaining neurological stabilization in Niemann-Pick disease type C.

PMID:
23146215
[PubMed]
PMCID:
PMC3514393
Free PMC Article
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