Assuntos
Encéfalo/patologia , Leucodistrofia Metacromática/patologia , Epilepsias Mioclônicas Progressivas/patologia , Adulto , Humanos , Leucodistrofia Metacromática/genética , Masculino , Epilepsias Mioclônicas Progressivas/diagnóstico , Epilepsias Mioclônicas Progressivas/genética , Neuroimagem , LinhagemRESUMO
A 2-year-old child had a metachromatic leukodystrophy-variant phenotype mainly involving the peripheral nervous system (PNS) that was caused by saposin-B deficiency. Bone marrow transplantation resulted in transient deterioration then continuous improvement of PNS functions. These findings were supported by nerve conduction velocity measurements, but the symptoms ultimately worsened. Magnetic resonance imaging showed persistent white matter lesions and progressive pontocerebellar atrophy.
Assuntos
Transplante de Medula Óssea , Glicoproteínas/deficiência , Leucodistrofia Metacromática/terapia , Encéfalo/patologia , Pré-Escolar , Humanos , Leucodistrofia Metacromática/patologia , Leucodistrofia Metacromática/fisiopatologia , Imageamento por Ressonância Magnética , Masculino , Condução Nervosa , Sistema Nervoso Periférico/fisiologia , Saposinas , Proteínas Ativadoras de EsfingolipídeosRESUMO
A case of metachromatic leucodystrophy in a three years old female patient is reported. Histopathological examination revealed metachromatic inclusions within the cytoplasms of the neurons, which led the authors to comment on the physiopathogenesis of this disease, grouping it in category of the lipidoses.
Assuntos
Encéfalo/patologia , Leucodistrofia Metacromática/patologia , Neurônios/ultraestrutura , Pré-Escolar , Feminino , Humanos , Leucodistrofia Metacromática/metabolismo , Sulfoglicoesfingolipídeos/metabolismoRESUMO
A 2 year old girl develops a fever, anorexia and a cough which last three weeks. Following this event, she presented with intention tremor and increasing difficulty with crawling. At the age of 3, a nerve biopsy was done which made the diagnosis of metachromatic leukodystrophy. EM examination of the nerve biopsy revealed large quantitites of abnormal structures in the cytoplasm of Schwann and phagocytic cells. Virus like spheroid bodies were present in a few axons and cytoplasm of Schwann cells.