Bone Marrow Transplantation in Aspartylglucosaminuria - Histopathological and MRI Study

T. Autti; J. Rapola; P. Santavuori; R. Raininko; M. Renlund; E. Liukkonen; L. Lauronen; K. Wirtavuori; M. Hietala; U. Saarinen-Pihkala

doi:10.1055/s-2007-973506

Neuropediatrics 1999; 30(6): 283-288
DOI: 10.1055/s-2007-973506

Original articles

Bone Marrow Transplantation in Aspartylglucosaminuria - Histopathological and MRI Study

T. Autti¹ , J. Rapola² , P. Santavuori³ , R. Raininko⁴ , M. Renlund⁴ , E. Liukkonen³ , L. Lauronen¹ , K. Wirtavuori⁶ , M. Hietala⁵ , U. Saarinen-Pihkala²

¹Department of Radiology, Helsinki University Central Hospital, Helsinki, Finland
²Hospital for Children and Adolescents, Department of Paediatric Neurology,
³Hospital for Children and Adolescents, Department of Obstetrics and Gynaecology,
⁴Hospital for Children and Adolescents, Department of Paediatrics
⁵Hospital for Children and Adolescents, Department of Anaesthesia, Helsinki, Finland
⁶Department of Diagnostic Radiology, Uppsala University, Uppsala, Sweden
⁷Department of Medical Genetics, University of Turku, Turku, Finland

Abstract

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Abstract

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 T_2-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 ACU.

Key words

Aspartylglucosaminuria - Bone marrow transplantation (BMT) - MRI - Histopathology

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