Early Infantil Krabbe Disease with Unusual Survival

• Autor(es): Ferreira, AC ; Sequeira, S
• Data: 2011
• Identificador Persistente: http://hdl.handle.net/10400.17/1040
• Origem: Repositório do Centro Hospitalar de Lisboa Central, EPE
• Assunto(s): Leucodistrofia de Células Globóides; Galactosilceramidase; Caso Clínico; Sobrevivência; HDE MTB
• Tipo de Documento: Outro
• Idioma: Inglês

Descrição

Introduction: Globoid cell leukodystrophy (Krabbe disease) is caused by a deficiency of the lysosomal galactocerebrosidase that results in progressive demyelination. The sole treatment is hematopoietic cell transplantation, which is only effective if performed before the onset of signs. In the absence of treatment, most children with early infantile Krabbe disease die within 2 years. Case Report: Female patient, first child of non-consanguineous parents, apparently normal till the fifth month of age when she presented with irritability, stiffness with clenched fists, developmental delay and feeding difficulties that progressed rapidly to failure to thrive, apathy, psychomotor regression, few spontaneous movements and spastic tetraparesis. Cerebral MRI showed extensive cerebral white matter abnormalities, relatively sparing the U-fibers, with a pattern of radiating stripes. Galactocerebrosidase activity in leukocytes and fibroblasts and molecular studies confirmed the diagnosis of Krabbe disease. After the rapid and regressive initial phase, she showed no further clinical progression of the disorder and although she did not grow she even showed regression of irritability and had a stable evolution and good visual contact until death over the age of 5 years. Comments: Our case shows that patients may have a stabilized form of disease and that a longer survival than described in the literature without transplant is possible in some patients.