Assuntos
Transtorno Autístico/complicações , Transtorno Autístico/genética , Deficiência Intelectual/complicações , Deficiência Intelectual/genética , Adolescente , Adulto , Transtorno Autístico/diagnóstico , Transtorno Autístico/etiologia , Eletroencefalografia , Feminino , Duplicação Gênica , Testes Genéticos , Hospitais Psiquiátricos , Humanos , Hibridização in Situ Fluorescente , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/etiologia , Masculino , Pessoa de Meia-Idade , Países Baixos , SíndromeRESUMO
Aicardi-Goutieres syndrome (AGS) (McKusick 225750) is an autosomal recessive disease with onset in the 1st year of life, resulting in progressive microcephaly, calcification of cerebral white matter, thalamus and basal ganglia, generalized cerebral demyelination and a chronic low-grade CSF lymphocytosis, without evidence of infection. We report the autopsy of a patient who died with this disorder at the age of 17 years. Findings were severe microencephaly, diffuse but inhomogeneous cerebral white matter loss with associated astrocytosis, calcific deposits in the white matter, thalami and basal ganglia. Neocortex and cerebellar cortex were affected by wedge-shaped microinfarctions. Small vessels showed calcification in the media, adventitia and perivascular spaces. These findings are similar to some previous publications that in retrospect may have been AGS, but this is the first reported cerebral microangiopathy in which the diagnosis AGS was made during lifetime. This report provides evidence that microangiopathy plays a significant role in the pathogenesis of AGS.
Assuntos
Encefalopatias/genética , Calcinose/genética , Doenças Desmielinizantes/genética , Genes Recessivos , Linfocitose/genética , Microcefalia/genética , Adolescente , Encefalopatias/diagnóstico por imagem , Encefalopatias/patologia , Calcinose/diagnóstico por imagem , Calcinose/patologia , Infarto Cerebral/patologia , Líquido Cefalorraquidiano/citologia , Transtornos Cerebrovasculares/genética , Transtornos Cerebrovasculares/patologia , Doenças Desmielinizantes/patologia , Evolução Fatal , Gliose/patologia , Humanos , Masculino , Microcefalia/patologia , Radiografia , SíndromeRESUMO
We describe a 34-year-old woman with mental retardation, short stature, macrocephaly, a "coarse" face, hoarse voice, and redundant skin with deep palmar and plantar creases who had evident Costello syndrome. Lacking papillomata, she had wart-like lesions of the skin. The previously reported patients with Costello syndrome are reviewed. Costello syndrome is probably an autosomal dominant disorder, either caused by a mutation in a single gene or by microdeletion.
Assuntos
Anormalidades Múltiplas/patologia , Cardiopatias Congênitas/patologia , Deficiência Intelectual/patologia , Anormalidades da Pele/patologia , Anormalidades Múltiplas/genética , Adulto , Fácies , Feminino , Cardiopatias Congênitas/genética , Humanos , Deficiência Intelectual/genética , Anormalidades da Pele/genética , SíndromeRESUMO
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.
