ArticleJournal of inherited metabolic disease2008
Treatment of a child diagnosed with Niemann-Pick disease type C with miglustat: a case report in Brazil.
Article in Journal of inherited metabolic disease, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 2 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
16 citing papers in PubMed, 2 syntheses or guidelines pooled it, 41 citations in OpenAlex.
- Neuropsychological assessment in Niemann-Pick disease type C: a systematic review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Pooled it
- Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat.Orphanet journal of rare diseases · 2012Pooled it
- Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C.Orphanet journal of rare diseases · 2015Trial
- Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.Orphanet journal of rare diseases · 2012Trial
- Practical recommendations for diagnosis, management, and follow-up of Niemann-Pick type-C disease patients: a Brazilian perspective.Arquivos de neuro-psiquiatria · 2025Article
- Beyond the Typical Syndrome: Understanding Non-motor Features in Niemann-Pick Type C Disease.Cerebellum (London, England) · 2020Review
- Psychiatric and Cognitive Symptoms Associated with Niemann-Pick Type C Disease: Neurobiology and Management.CNS drugs · 2019Review
- Miglustat in Niemann-Pick disease type C patients: a review.Orphanet journal of rare diseases · 2018Review
- Niemann-Pick disease treatment: a systematic review of clinical trials.Annals of translational medicine · 2015Review
- Cataplexy and sleep disorders in Niemann-Pick type C disease.Current neurology and neuroscience reports · 2015Review
- Review
- Miglustat improves purkinje cell survival and alters microglial phenotype in feline Niemann-Pick disease type C.Journal of neuropathology and experimental neurology · 2012Article
- Misdiagnosis of Niemann-Pick disease type C as Gaucher disease.Journal of inherited metabolic disease · 2010Article
- Niemann-Pick disease type C.Orphanet journal of rare diseases · 2010Review
- New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat.Therapeutics and clinical risk management · 2009Article
- [International Children's Day].Pediatriia · 1977Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Niemann-Pick disease type C (NPC) is an autosomal recessive neurovisceral lysosomal lipid storage disorder that leads to variable symptoms that include cognitive decline, ataxia, dystonia, cataplexy, vertical supranuclear gaze palsy, and seizures. Currently, there is no specific treatment for NPC other than palliative care. Substrate reduction therapy represents a potential strategy for treating this debilitating neurodegenerative disorder. Miglustat (Zavesca) is a reversible inhibitor of the enzyme glucosylceramide synthase, which catalyses the first step in the biosynthesis of most glycosphingolipids. Miglustat has pharmacokinetic properties that allow it to cross the blood-brain barrier, thus making it a potential therapeutic agent for treating neurological symptoms in NPC patients. We present here a case report of a Brazilian child treated with miglustat. Before treatment, the patient presented with difficulties walking and swallowing, slurred speech, moderate cognitive impairments, ataxia, ptosis, and vertical supranuclear ophthalmoplegia. On a disability scale, the patient obtained a score of 15 before treatment and 8 after treatment. Following 12 months of treatment, the patient remained stable with improvements in speech, ptosis, ophthalmoplegia, ataxia, hypotonia and seizures. The Child Behavior Checklist (CBCL) was used to assess psychopathological, behavioural and social problems before and after treatment. The CBCL showed that indices for depression, affective and attention problems were all in the normal range following treatment. Thus, for this individual miglustat was an effective, well-tolerated and efficacious medication for treatment of NPC symptoms. Follow-up maintenance studies are vital to establish whether both the efficacy and safety of miglustat persist with time.
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Registered trials
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