RESUMEN
The combination of intracranial calcification and polymicrogyria is usually seen in the context of intrauterine infection, most frequently due to cytomegalovirus. Rare familial occurrences have been reported. We describe five patients-two male-female sibling pairs, one pair born to consanguineous parents, and an unrelated female-with a distinct pattern of band-like intracranial calcification associated with simplified gyration and polymicrogyria. Clinical features include severe post-natal microcephaly, seizures and profound developmental arrest. Testing for infectious agents was negative. We consider that these children have the same recognizable "pseudo-TORCH" phenotype inherited as an autosomal recessive trait.
Asunto(s)
Anomalías Múltiples/patología , Encefalopatías/complicaciones , Calcinosis/complicaciones , Malformaciones del Desarrollo Cortical/complicaciones , Encéfalo/patología , Niño , Resultado Fatal , Femenino , Humanos , Lactante , Imagen por Resonancia Magnética , Masculino , Fenotipo , Cambios Post Mortem , Tomografía Computarizada por Rayos XRESUMEN
We report on three children from two families with Aicardi-Goutières syndrome. All three had congenital glaucoma. Additionally, neuroimaging demonstrated significant brain stem atrophy in the affected sib-pair. These features have not been previously described in Aicardi-Goutières syndrome and expand the phenotypic spectrum.
Asunto(s)
Anomalías Múltiples/patología , Tronco Encefálico/patología , Glaucoma/patología , Enfermedades Neurodegenerativas/patología , Atrofia , Tronco Encefálico/diagnóstico por imagen , Resultado Fatal , Femenino , Humanos , Lactante , Masculino , Tomografía Computarizada por Rayos XRESUMEN
The diagnostic quality of intravenous subtraction aorto-iliac arteriograms was assessed in 60 patients randomly allocated to receive either hyoscine butylbromide or glucagon as an inhibitor of bowel peristalsis. The examinations in patients receiving hyoscine butylbromide showed statistically significantly less artefact due to bowel movement than those receiving glucagon. Furthermore, glucagon is 20 times more expensive than hyoscine butylbromide. Neither drug produced significant ECG changes or side effects. We conclude that intravenous hyoscine butylbromide should be used routinely, except where specifically contra-indicated, in all patients undergoing IV-DSA of the aorto-iliac segments.