RESUMO
The authors report a case of thrombosis of the spermatic veins associated with Henoch-Schönlein purpura mimicking an acute scrotum, which responded to a low-molecular-weight heparin treatment.
Assuntos
Vasculite por IgA/diagnóstico , Escroto/irrigação sanguínea , Trombose Venosa/etiologia , Criança , Humanos , MasculinoRESUMO
We present the results of a collaborative study on the association of congenital muscular dystrophy with central nervous system anomalies revealed by CT scan investigation of 10 patients. In seven children, an abnormal hypodensity of the cerebral white matter is found; in four of these patients, this radiological anomaly is either isolated, or associated with a moderate intellectual impairment; in one case, severe mental retardation and ocular changes had occurred; in the other two cases, the muscular disease was progressing slowly, in association with microcephaly, epilepsy, and moderate mental retardation. Three children were afflicted with a severe early encephalopathy and congenital muscular dystrophy, and presented signs of cortical and subcortical atrophy on CT scan. Two of these patients corresponded to different types of cerebro-ocular dysplasia-muscular dystrophy syndromes, and the third patient of Fukuyama's congenital muscular dystrophy. These observations are discussed and compared with those reported in the literature. The authors emphasize the need to investigate possible cerebral CT scan anomalies in congenital muscular dystrophies, and to look for muscular changes in some prenatal encephalopathies.
Assuntos
Encéfalo/anormalidades , Distrofias Musculares/congênito , Tomografia Computadorizada por Raios X , Atrofia , Biópsia , Encéfalo/patologia , Criança , Anormalidades do Olho , Feminino , Humanos , Deficiência Intelectual/congênito , Deficiência Intelectual/patologia , Masculino , Músculos/patologia , Distrofias Musculares/patologiaRESUMO
A 6-year-old girl had an excessively rapid longitudinal growth of early onset (height age of 9 years), moderate obesity, large hands and feet, a large dolichocephalic head and facial features as described in Sotos syndrome or cerebral gigantism. In addition, she exhibited mental dullness, hypotonia and clumsiness. CT scanning of the head demonstrated major ventricular anomalies and absence of corpus callosum. Fundoscopy and electroretinography revealed an early stage of atrophic macular degeneration (AMD) with cone dysfunction, bilaterally. Wether this association of cerebral gigantism and AMD is fortuitous or not is unknown.
