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Open Access Case report

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

Johannes Skorpen1*, Ingrid B Helland2 and Bjørn Tennøe3

Author Affiliations

1 Department of Paediatric Medicine, Ålesund Hospital, Child Habilitation Unit, N-6026, Ålesund, Norway

2 Children’s Department, Oslo university Hospital, Rikshospitalet, P O Box 4950, Nydalen, NO-0424, Oslo, Norway

3 Department of Radiology, Oslo university Hospital, Rikshospitalet, P O Box 4950, Nydalen, NO-0424, Oslo, Norway

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Journal of Medical Case Reports 2012, 6:383  doi:10.1186/1752-1947-6-383

Published: 12 November 2012

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.

Keywords:
Niemann-Pick disease type C; Infant; Miglustat; Treatment; Seizures; Anti-epileptic