RESUMEN
We report a new case of pathologically documented Joubert syndrome. A review of 35 published cases showed that this syndrome, first described by Joubert and Eisenring in 1969, is well individualized and exhibits consistent features, including attacks of tachypnea alternating with respiratory pauses, abnormal ocular movements, severe psychomotor retardation, and ataxia. Anatomic anomalies include vermian agenesis with cystic dilatation of the fourth ventricle. Inheritance of this condition is autosomal and recessive. Onset is in the neonatal period and prognosis is severe. Significant anatomic resemblances with the Dandy-Walker syndrome exist, although genetic and clinical features are different. The origin of this syndrome is unknown, but a study of peroxisomes is required since three cases of Joubert syndrome with pipecolic acidemia have been reported and resemblances exist between some recognized peroxisomal diseases and Joubert syndrome.
Asunto(s)
Ventrículos Cerebrales/anomalías , Trastornos de la Motilidad Ocular/complicaciones , Trastornos Respiratorios/complicaciones , Ventrículos Cerebrales/patología , Síndrome de Dandy-Walker/diagnóstico , Diagnóstico Diferencial , Humanos , Recién Nacido , Masculino , SíndromeRESUMEN
The case of a 12 year-old European girl who lived in Senegal for 9 months and who presented with Western-African trypanosomiasis is reported. The diagnosis was made because of the occurrence of uveomeningitis following progressive alteration of her general condition. A favorable outcome was observed after two intravenous courses of Eflornithine (difluoromethylornithine, DFMO).
Asunto(s)
Meningitis/etiología , Tripanosomiasis Africana/complicaciones , Uveítis/etiología , Animales , Niño , Eflornitina/uso terapéutico , Femenino , Humanos , Trypanosoma brucei gambiense , Tripanosomiasis Africana/tratamiento farmacológicoRESUMEN
A case of recurrent infantile cortical hyperostosis in a 3 1/2 year-old girl is reported. Nine other late cases have been previously described. When compared with Caffey's disease, this delayed form of the illness constitutes a distinct homogeneous syndrome of unknown etiology.
Asunto(s)
Hiperostosis Cortical Congénita , Preescolar , Femenino , Humanos , Hiperostosis Cortical Congénita/clasificación , Hiperostosis Cortical Congénita/diagnóstico , Hiperostosis Cortical Congénita/diagnóstico por imagen , RadiografíaRESUMEN
A case of bipolar and relapsing cerebrovascular hemorrhages with hypertension is reported in a 7 year-old Gabonese girl. These strokes were the first sign of a sickle cell disease. Mechanisms of cerebral hemorrhages in sickle cell disease are reviewed and similarities with the "hypertension, convulsion and cerebral hemorrhage after transfusions "syndrome reported by Wasi et al. in thalassemic patients are underlined.
Asunto(s)
Anemia de Células Falciformes/complicaciones , Hemorragia Cerebral/etiología , Reacción a la Transfusión , Anemia de Células Falciformes/genética , Animales , Niño , Femenino , Homocigoto , HumanosRESUMEN
We report a case of giant axonal neuropathy in a 14 year-old turkish boy with progressive chronic neuropathy and central involvement with mental retardation. CT showed a low density and MRI imaging multiple cavities and hypersignals of the white matter. Nerve and skin biopsies revealed an accumulation of neurofilaments in axonal swellings and an accumulation of intermediate filaments in fibroblasts, Schwann cells, endothelial cells. These findings are in accordance with the reported cases. Giant axonal neuropathy results from a generalized disorder of the intermediate filaments, but the precise biochemical defect is unknown. We would agree with Maia (1988) to name this affection "Giant Axonal Disease".