Neurological and cardiac responses after treatment with miglustat and a ketogenic diet in a patient with Sandhoff disease

Ives T. Villamizar-Schiller, Laudy A. Pabón, Sophia B. Hufnagel, Norma C. Serrano, Gabriela Karl, John L. Jefferies, Robert J. Hopkin, Carlos E. Prada

Research output: Contribution to journalArticlepeer-review

12 Scopus citations

Abstract

Sandhoff disease is a progressive neurodegenerative disorder characterized by accumulation of GM2 gangliosides. We describe a 6-year-old male with coarse facial features, developmental delay, refractory seizures, hypertrophic cardiomyopathy, who was later found to have Sandhoff disease. Previous studies have revealed that caloric restriction in combination with miglustat increased survival and motor behavior in mouse model of Sandhoff disease. These findings suggest that combination therapy may result in improved outcomes for patients with Sandhoff. Initiation of treatment with miglustat and a ketogenic diet was followed by improvement of the patient's seizure control and cardiac function. Further clinical investigation is required to better determine the benefit of management in late-onset forms of Sandhoff disease.

Original languageEnglish
Pages (from-to)180-183
Number of pages4
JournalEuropean Journal of Medical Genetics
Volume58
Issue number3
DOIs
StatePublished - 1 Mar 2015
Externally publishedYes

Keywords

  • Cardiomyopathy
  • HEXB
  • Ketogenic diet
  • Lysosomal storage disease
  • Substrate reduction therapy

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