The authors report on 2 boys, 11(1/2) and 13 years old, who received allogeneic stem cell transplantation (alloSCT) from their HLA-identical sibling after relapse of stage IV alveolar rhabdomyosarcoma. Both patients were transplanted in a non-remission status. After alloSCT both patients experienced disease progression at the primary tumor location sites and died due to the underlying disease 146 and 379 days after transplantation. The authors conclude that an alloSCT derived graft versus tumor effect might not be effective enough to overcome alveolar rhabdomyosarcoma when transplantation is carried out in a nonremission status.
Leukoencephalopathy and cerebral atrophy occur as prominent radiological features in early onset neurodegenerative disorders of inherited metabolic origin. Menkes disease is a rare X-linked recessive disorder, characterized by neurodevelopmental delay in early infancy, failure to thrive and seizures. While diagnosis of Menkes disease is usually based upon clinical, genetic and laboratory findings, typical radiolological features such as extensive lesions in the white and grey matter are present. Alterations found in more advanced stages are generalized atrophy and vascular changes. We present the case of a 10-month-old boy with Menkes disease, showing extensive abnormal signal of cerebral white matter, followed by generalized cerebral atrophy in magnetic resonance imaging.
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