RESUMO
Two cases of Pelizaeus-Merzbacher disease are described, one with the classical and one with the connatal form, both in the same family. It is an X-linked disease affecting the myelinisation of the brain. Pelizaeus-Merzbacher manifests itself within a few months after birth and has a progressive character. The disease is caused by a point mutation in the PLP gene coding for the myelin-protein proteolipid protein. MRI imaging has improved the possibility for diagnosis especially in families with cases of Pelizaeus-Merzbacher disease and PLP gene detection has brought antenatal diagnosis in focus.
Assuntos
Encéfalo/patologia , Esclerose Cerebral Difusa de Schilder/patologia , Adulto , Pré-Escolar , Esclerose Cerebral Difusa de Schilder/genética , Humanos , Imageamento por Ressonância Magnética , Masculino , Proteínas da Mielina/genética , Linhagem , Mutação Puntual , Proteolipídeos/genéticaRESUMO
The effect of naltrexone on the frequency of self-injurious behavior (SIB) was investigated in 6 male subjects with profound mental retardation. Following a double-blind placebo-controlled crossover design, naltrexone was administered in a dose of 50 mg once daily for 3 consecutive weeks. In 2 of 5 subjects, a significant decrease of SIB frequency could be demonstrated, and in 1, a tendency to a reduction was found. No effect on duration of restrain time was found in 3 subjects. These data suggest that disturbances of the endogenous opioid systems may be involved in the pathophysiology of SIB of certain patients.
