Journal of Inherited Metabolic Disease

, Volume 31, Supplement 2, pp 357–361 | Cite as

Treatment of a child diagnosed with Niemann–Pick disease type C with miglustat: A case report in Brazil

  • M. L. F. Santos
  • S. Raskin
  • D. S. Telles
  • A. Löhr Junior
  • P. B. N. Liberalesso
  • S. C. Vieira
  • M. L. Cordeiro
Short Report


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.


Probucol Miglustat Chitotriosidase Activity Substrate Reduction Therapy Moderate Cognitive Impairment 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



Child behavior checklist


Magnetic resonance imaging


Niemann–Pick disease type C


every day


three times a day



We thank Dr Cameron B. Gundersen for critical reading of the manuscript, and Jaqueline Kolberg for assistance with the illustrations. M. L. C. gratefully acknowledges support from Mr Norbert Gehr. We also thank the patient’s family for allowing this publication.


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Copyright information

© Springer Science+Business Media B.V. 2008

Authors and Affiliations

  • M. L. F. Santos
    • 2
  • S. Raskin
    • 3
  • D. S. Telles
    • 4
  • A. Löhr Junior
    • 2
  • P. B. N. Liberalesso
    • 2
  • S. C. Vieira
    • 2
  • M. L. Cordeiro
    • 1
  1. 1.Department of NeuropsychopharmacologyPelé Pequeno Príncipe Research Institute, Instituto de Ensino Superior Pequeno PríncipeCuritibaBrazil
  2. 2.Department of NeuropediatricsPequeno Príncipe Children’s HospitalCuritibaBrazil
  3. 3.Department of GeneticsCatholic University of ParanáCuritibaBrazil
  4. 4.Department of RadiologyPequeno Príncipe Children’s HospitalCuritibaBrazil

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