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Limited benefits of presymptomatic cord blood transplantation in neurovisceral acid sphingomyelinase deficiency (ASMD) intermediate type.
Mercati, Oriane; Pichard, Samia; Ouachée, Marie; Froissart, Roseline; Fenneteau, Odile; Roche, Bastien; Elmaleh-Bergès, Monique; Bertrand, Yves; Ogier de Baulny, Hélène; Vanier, Marie T; Schiff, Manuel.
Afiliación
  • Mercati O; Reference Centre for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris, France.
  • Pichard S; Reference Centre for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris, France.
  • Ouachée M; Department of Haematology, Robert Debré University Hospital, APHP, Paris, France.
  • Froissart R; Laboratory for Inborn Errors of Metabolism, CBPE, East Hospital, Hospices Civils de Lyon, Bron, France.
  • Fenneteau O; Department of Biological Haematology, Robert Debré University Hospital, APHP, Paris, France.
  • Roche B; Reference Centre for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris, France.
  • Elmaleh-Bergès M; Department of Pediatric Imaging, Robert Debré University Hospital, APHP, Paris, France.
  • Bertrand Y; Department of Child Haematology and Oncology, IHOP University Hospital, HCL, Lyon, France.
  • Ogier de Baulny H; Reference Centre for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris, France.
  • Vanier MT; Laboratory for Inborn Errors of Metabolism, CBPE, East Hospital, Hospices Civils de Lyon, Bron, France; INSERM U820, Lyon, France.
  • Schiff M; Reference Centre for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris, France; UMR1141, PROTECT, INSERM, Université Paris Diderot, Sorbonne Paris Cité, Paris, France. Electronic address: manuel.schiff@aphp.fr.
Eur J Paediatr Neurol ; 21(6): 907-911, 2017 Nov.
Article en En | MEDLINE | ID: mdl-28801223
Acid sphingomyelinase (ASM) deficient Niemann-Pick disease is a lysosomal storage disorder resulting from mutations in the SMPD1 gene. The clinical spectrum distinguishes a severe infantile neurological form (type A), a non-neurological visceral form (type B) and a rare intermediate neurovisceral form. We report the first case of presymptomatic cord blood transplantation in a child with the intermediate type of ASM deficiency due to a homozygous Tyr369Cys mutation, whose affected elder brother had developed neurodevelopmental delay from 19 months of age, and had died from severe visceral complications at the age of 3. In the transplanted propositus, neurological deterioration became evident by 4 years of age; the child was alive at age 8, although severely disabled. Whereas the transplant prevented visceral progression and early death, it could only delay neurocognitive deterioration.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades de Niemann-Pick / Trasplante de Células Madre de Sangre del Cordón Umbilical Límite: Child / Female / Humans / Male Idioma: En Revista: Eur J Paediatr Neurol Asunto de la revista: NEUROLOGIA / PEDIATRIA Año: 2017 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades de Niemann-Pick / Trasplante de Células Madre de Sangre del Cordón Umbilical Límite: Child / Female / Humans / Male Idioma: En Revista: Eur J Paediatr Neurol Asunto de la revista: NEUROLOGIA / PEDIATRIA Año: 2017 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Reino Unido