Résumé
Choreoacanthocytosis (ChAc) is a rare autosomal recessive neurodegenerative disorder characterized by progressive onset of hyperkinetic movements and red cell acanthocytosis. The most striking clinical feature is that of the orofacial and lingual movement abnormalities leading to severe feeding difficulties. Maintenance of proper nutrition in ChAc is a challenge. We report on a case of ChAc in a 32-year-old male in whom dramatic weight loss due to orolingual dyskinesia was the major consequence of the disease. This case report warrants more attention to the impact of orolingual dyskinesia on nutritional status in patients with ChAc.
Sujets)
Adulte , Noyau caudé/anatomopathologie , Chorée/anatomopathologie , Dyskinésies/anatomopathologie , Humains , Imagerie par résonance magnétique , Mâle , Tomodensitométrie/méthodes , Perte de poids/physiologieRésumé
Displasia fibromuscular intracraniana isolada é rara e pode se apresentar como acidente vascular cerebral (AVC). Ela deve ser considerada como etiologia do AVC em paciente jovem saudável. Embora o seu diagnóstico possa ser um desafio, características morfológicas específicas podem ser reveladas através da angiografia através de ressonância nuclear magnética e por de catéter. A displasia fibromuscular envolvendo a circulação cérvico-cefálica afeta tipicamente a artéria carótida interna extracraniana (95%). O presente caso relata uma rara ocorrência de displasia fibromuscular intracraniana em uma jovem de 19 anos com infarto do núcleo caudado e joelho da cápsula interna à esquerda.
Sujets)
Adulte , Femelle , Humains , Artère cérébrale antérieure/anatomopathologie , Dysplasie fibromusculaire/complications , Accident vasculaire cérébral/étiologie , Angiographie cérébrale , Noyau caudé/anatomopathologie , Dysplasie fibromusculaire/diagnostic , Angiographie par résonance magnétique , Accident vasculaire cérébral/diagnosticRésumé
We report two rare cases of Huntington's disease in Omani Arab families which were diagnosed by DNA studies and showed atrophy of caudate nuclei in CT/MRI studies
Sujets)
Humains , Femelle , Maladie de Huntington/imagerie diagnostique , Maladie de Huntington/imagerie diagnostique , Imagerie par résonance magnétique , Noyau caudé/anatomopathologieRésumé
Se presentan dos casos de Corea de Huntington con autopsia completa, en dos hombres de 70 y 43 años en quienes no se hizo el diagnóstico en vida. Los hallazgos macroscópicos son muy característicos en los dos encéfalos, con atrofia principalmente del caudado y en menor grado del putamen y el globus pallidus, que microscópicamente se corrobora por la presencia de pérdida neuronal, rarefacción y gliosis poco acentuada. Se comenta acerca del diagnóstico premortem y la hipótesis actual sobre el mecanismo de la enfermedad
Sujets)
Adulte d'âge moyen , Humains , Mâle , Atrophie/anatomopathologie , Autopsie , Cerveau/anatomopathologie , Maladie de Huntington/anatomopathologie , Noyau caudé/anatomopathologieRésumé
Isolated caudate nucleus lesions have only rarely been documented to cause focal extrapyramidal dysfunction. Two cases with possible infarcts in the head of left caudate nucleus presenting with contralateral tremors and blepharospasm with hemifacial spasm are reported. The possible mechanisms for such a presentation are discussed.