title: Neurological and cardiac responses after treatment with miglustat and a ketogenic diet in a patient with Sandhoff disease.
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.
authors.affiliation: Centro de Medicina Genómica y Metabolismo, Fundación Cardiovascular de Colombia, Floridablanca, Colombia.
authors.forename: Ives T
authors.initials: IT
authors.lastname: Villamizar-Schiller
authors.affiliation: Centro de Medicina Genómica y Metabolismo, Fundación Cardiovascular de Colombia, Floridablanca, Colombia.
authors.forename: Laudy A
authors.initials: LA
authors.lastname: Pabón
authors.affiliation: Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States.
authors.forename: Sophia B
authors.initials: SB
authors.lastname: Hufnagel
authors.affiliation: Centro de Medicina Genómica y Metabolismo, Fundación Cardiovascular de Colombia, Floridablanca, Colombia.
authors.forename: Norma C
authors.initials: NC
authors.lastname: Serrano
authors.affiliation: Department of Cardiology, Fundación Cardiovascular de Colombia (FCV), Floridablanca, Colombia.
authors.forename: Gabriela
authors.initials: G
authors.lastname: Karl
authors.affiliation: The Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States.
authors.forename: John L
authors.initials: JL
authors.lastname: Jefferies
authors.affiliation: Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States.
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Hopkin
authors.affiliation: Centro de Medicina Genómica y Metabolismo, Fundación Cardiovascular de Colombia, Floridablanca, Colombia; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States. Electronic address: carlosprada@fcv.org.
authors.forename: Carlos E
authors.initials: CE
authors.lastname: Prada
mesh_terms: D017485:1-Deoxynojirimycin / Q000031:analogs & derivatives* / Q000494:pharmacology; D002648:Child; D002675:Child, Preschool; D055423:Diet, Ketogenic; D006801:Humans; D008297:Male; D012497:Sandhoff Disease / Q000175:diagnosis / Q000178:diet therapy* / Q000188:drug therapy* / Q000235:genetics*
chemical_list: D017485:1-Deoxynojirimycin; C059896:miglustat
keywords: Cardiomyopathy; HEXB; Ketogenic diet; Lysosomal storage disease; Substrate reduction therapy