Bone marrow transplantation in aspartylglucosaminuria--histopathological and MRI study.
Neuropediatrics
; 30(6): 283-8, 1999 Dec.
Article
en En
| MEDLINE
| ID: mdl-10706021
This study comprised two patients with aspartylglucosaminuria (AGU), who were followed up for 4 and 7 years. The patients underwent allogeneic bone marrow transplantation (BMT) at the ages of 2 and 2.6 years. Both patients had abnormal speech development and gross motor clumsiness. At the time of the BMT, they were mentally retarded. We report on follow-up data of these patients obtained by MRI, in addition to the histopathological, biochemical and clinical investigations. MR images of six non-transplanted patients and seven healthy children served as controls. In the non-transplanted patients, MRI revealed evident delay of myelination in contrast to the two transplanted patients showing fair or evident grey- vs. white matter differentiation on T2-weighted images. The aspartylglucosaminidase (AGA) activity in blood leukocytes reached a heterozygous level. Urinary excretion of aspartylglucosamine and glycoasparagines slowly decreased but remained about a third of the pre-BMT level 5 years after BMT. Storage lysosomes in electron microscopic investigations were not decreased 6 months after BMT, but after 1.5-2 years, rectal mucosa samples showed a decrease in the storage vacuoles of different cells. Three years after BMT, no cells with storage vacuoles were present. Allogeneic BMT slowly normalises the pathological, biochemical and MRI findings in patients with AGU.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Aspartilglucosilaminasa
/
Trasplante de Médula Ósea
/
Aspartilglucosaminuria
Tipo de estudio:
Observational_studies
/
Prognostic_studies
Límite:
Child
/
Child, preschool
/
Humans
Idioma:
En
Revista:
Neuropediatrics
Año:
1999
Tipo del documento:
Article
País de afiliación:
Finlandia
Pais de publicación:
Alemania