Abstract | BACKGROUND: CASE PRESENTATION: We describe the case of a 16-year-old white French boy with late-infantile-onset Niemann-Pick disease type C who had the unusual presentation of early-onset behavioral disturbance and learning difficulties (aged 5) alongside epileptic seizures. Over time he developed characteristic, progressive vertical ophthalmoplegia, ataxic gait, and cerebellar syndrome; at age 10 he was diagnosed as having Niemann-Pick disease type C based on filipin staining and genetic analysis (heterozygous I1061T/R934X NPC1 mutations). He was commenced on miglustat therapy aged 11 and over the course of approximately 3 years he showed a global improvement as well as improved cognitive and ambulatory function. During this period he remained seizure free on antiepileptic therapy, using valproate and lamotrigine. CONCLUSIONS:
Miglustat improved the neurological status of our patient, including seizure control. Based on our findings in this patient and previous published data, we discuss the importance of effective seizure control in neurological improvement in Niemann-Pick disease type C, and the relevance of cerebellar involvement as a possible link between these clinical phenomena. Thus the therapeutic efficacy of miglustat could be hypothesized as a substrate reduction effect on Purkinje cells.
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Authors | Jean-Marie Cuisset, S Sukno, A Trauffler, P Latour, D Dobbelaere, L Michaud, L Vallée |
Journal | Journal of medical case reports
(J Med Case Rep)
Vol. 10
Issue 1
Pg. 241
(Sep 06 2016)
ISSN: 1752-1947 [Electronic] England |
PMID | 27599728
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Carrier Proteins
- Enzyme Inhibitors
- Intracellular Signaling Peptides and Proteins
- Membrane Glycoproteins
- NPC1 protein, human
- Niemann-Pick C1 Protein
- 1-Deoxynojirimycin
- miglustat
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Topics |
- 1-Deoxynojirimycin
(analogs & derivatives, therapeutic use)
- Adolescent
- Carrier Proteins
- Cerebellum
(diagnostic imaging, pathology)
- Cognition Disorders
(drug therapy, genetics, physiopathology)
- Enzyme Inhibitors
(therapeutic use)
- Epilepsy
(drug therapy, genetics, physiopathology)
- Humans
- Intracellular Signaling Peptides and Proteins
- Magnetic Resonance Imaging
- Male
- Membrane Glycoproteins
- Mental Disorders
(drug therapy, genetics, physiopathology)
- Mutation
(genetics)
- Niemann-Pick C1 Protein
- Niemann-Pick Disease, Type C
(drug therapy, genetics, physiopathology)
- Ophthalmoplegia
(drug therapy, genetics, physiopathology)
- Treatment Outcome
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