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1/2021
vol. 96 abstract:
Case report
First hematopoietic stem cell transplantation in a child with late infantile Krabbe disease in Poland
Izabella Miśkiewicz-Migoń
1
,
Justyna Miśkiewicz-Bujna
1
,
Monika Mielcarek-Siedziuk
1
,
Jowita Frączkiewicz
1
,
Ewa Gorczyńska
1
,
Krzysztof Kałwak
1
Pediatr Pol 2021; 96 (1): 68–70
Online publish date: 2021/03/28
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Krabbe disease (KD) is a lysosomal storage disorder, caused by a deficiency of galactocerebrosidase (GALC) or a mutation in the prosaposin gene, which leads to psychosine accumulation. Consequently, demyelination and degradation of the nervous system occur. Newborns with early infantile Krabbe disease usually present with poor feeding, irritability, hypertonicity, deafness and visual impairment. They usually die, unless transplanted with hematopoietic stem cells (HSC) during the 1st month of life. Patients with late form KD have heterogeneous symptoms, like ataxia or spastic paresis followed by slow progression. Therapeutic options are limited and hematopoietic stem cell transplantation (HSCT) remains the only life-saving method. In this report, we describe the first HSCT in late-infantile Krabbe disease in Poland. The post-transplant period was complicated by graft versus host disease (GvHD), veno-occlusive disease (VOD), mucositis and impairment of renal function. The 5-year follow-up was uneventful, confirming clinical efficacy of the HSCT.
keywords:
hematopoietic stem cell transplantation, globoid cell leukodystrophy, Krabbe disease, lysosomal storage disorders |
POLSKI
