Limited benefits of presymptomatic cord blood transplantation in neurovisceral acid sphingomyelinase deficiency (ASMD) intermediate type
| Autor: | Monique Elmaleh-Bergès, Hélène Ogier de Baulny, Bastien Roche, Roseline Froissart, Oriane Mercati, Odile Fenneteau, Manuel Schiff, Marie Ouachee, Samia Pichard, Yves Bertrand, Marie T. Vanier |
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| Rok vydání: | 2017 |
| Předmět: |
Male
0301 basic medicine Pathology medicine.medical_specialty Pediatrics Early death Disease Biology medicine.disease_cause 03 medical and health sciences 0302 clinical medicine medicine Humans Child Cord blood transplantation Niemann-Pick Diseases Mutation Siblings Homozygote General Medicine Intermediate type Pedigree Sphingomyelin Phosphodiesterase Treatment Outcome 030104 developmental biology Pediatrics Perinatology and Child Health Neurodevelopmental delay Female Cord Blood Stem Cell Transplantation Neurology (clinical) Acid sphingomyelinase Neurocognitive 030217 neurology & neurosurgery medicine.drug |
| Zdroj: | European Journal of Paediatric Neurology. 21:907-911 |
| ISSN: | 1090-3798 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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