Search: WFRF:(Saarinen Kari) >
Bone marrow transpl...
Bone marrow transplantation in aspartylglucosaminuria : histopathological and MRI study
- Article/chapterEnglish1999
Publisher, publication year, extent ...
-
2007-03-12
-
Georg Thieme Verlag KG,1999
-
printrdacarrier
Numbers
-
LIBRIS-ID:oai:DiVA.org:uu-57117
-
https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-57117URI
-
https://doi.org/10.1055/s-2007-973506DOI
Supplementary language notes
-
Language:English
-
Summary in:English
Part of subdatabase
Classification
-
Subject category:ref swepub-contenttype
-
Subject category:art swepub-publicationtype
Notes
-
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.
Subject headings and genre
-
Aspartylglucosaminuria
-
Bone marrow transplantation (BMT)
-
MRI
-
Histopathology
-
MEDICINE
-
MEDICIN
Added entries (persons, corporate bodies, meetings, titles ...)
-
Rapola, J.
(author)
-
Santavuori, Pirkko
(author)
-
Raininko, RailiUppsala universitet,Institutionen för onkologi, radiologi och klinisk immunologi,RAD
(author)
-
Renlund, M.
(author)
-
Liukkonen, E.
(author)
-
Lauronen, Leena
(author)
-
Wirtavuori, Kari
(author)
-
Hietala, M
(author)
-
Saarinen-Pihkala, U.
(author)
-
Uppsala universitetInstitutionen för onkologi, radiologi och klinisk immunologi
(creator_code:org_t)
Related titles
-
In:Neuropediatrics: Georg Thieme Verlag KG30:6, s. 283-80174-304X1439-1899
Internet link
Find in a library
To the university's database