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Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-55648


Woodhouse-Sakati syndrome (WSS) is an infrequent autosomal recessive condition characterized by progressive extrapyramidal signs, mental retardation, hypogonadism, alopecia, and diabetes mellitus. This syndrome belongs to a heterogeneous group of inherited neurodegenerative disorders characterized iron accumulation in the brain, and it is caused by mutations of the C2orf37 gene. We report the first Tunisian family with two affected sisters presenting with a phenotype suggestive of WSS. We examined the index patient presenting with movement disorders and mental retardation and then searched for similar cases in her family, which identified a sister with similar signs. We performed a genetic study that confirmed the diagnosis and revealed a c.436delC mutation of the C2orf37 gene. Therefore, WSS is an important consideration in patients presenting with movement disorders and intellectual disability. A high consanguinity contributes to the clustering of such rare autosomal recessive syndromes.

Alopecia , Encéfalo , Consanguinidade , Diabetes Mellitus , Diagnóstico , Distonia , Humanos , Hipogonadismo , Deficiência Intelectual , Ferro , Transtornos dos Movimentos , Doenças Neurodegenerativas , Fenótipo , Irmãos
Pan Arab Journal of Neurosurgery. 2002; 6 (2): 47-51
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-60567


A 26-year-old woman was admitted with symptoms of raised intracranial pressure. On admission, neurological examination showed a bilateral papilloedema. There were no spinal, medullar or radicular sings and the brain computed tomography scan was normal. Lumbar puncture disclosed increased cerebrospinal fluid pressure [285 mm H2O]. CSF protein concentration was elevated [280 mg/dl] and glucose and cell counts were normal [respectively 56 mg/dl and 5 /mm3]. Magnetic resonance angiography eliminated a cerebral venous thrombosis. Considering the al-buminocytologic dissociation, a spinal magnetic resonance imaging [MRI] was done. It showed a cauda equina tumour. The patient underwent total resection of this intradural spinal tumour, via a posterior approach. The pathological diagnosis was neurinoma. A few weeks after surgery, symptoms of intracranial hypertension disappeared and eyes fundoscopy was normal. Similar cases in the literature were reviewed. Pathogeneses and mechanisms are discussed. We must keep in mind that some spinal tumours can appear under the mask of intracranial hypertension. Spinal MRI should be rapidly done avoiding delayed diagnosis and the risk of visual after-effects

Humanos , Feminino , Neurilemoma/diagnóstico , Neoplasias da Coluna Vertebral , Vértebras Lombares/patologia , Imagem por Ressonância Magnética
Neurosciences. 1999; 4 (4): 304-308
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-51927


A new epidemic of brucellosis appeared in Tunisia since 1989 and neurological was observed in some cases. We report 5 neurobrucellosis patients originating from south Tunisia, their mean age was 47 years. General symptoms included headache and moderate fever. Neurological examination demonstrated paraplegia in 4 cases and hemiparesis one. Treatment associated cotrimoxazo, reframing and tetracycline for a mean duration of 10 months. Compete recovery or imorovement was observed in 4 cases. For the last case, she remained bedridden. Our series demonstrated the wide spectrum of neurological presentation of neurobrcellosis and the efficiency of specific treatment. The disappearance of human brucellosis in developing countries requires hygienic processing of milk and eradication of infection from carrier animals. Neurologists in developing countries should be aware about diverse presentation neurobrucellosis

Humanos , Masculino , Feminino , Meningite/etiologia , Meningoencefalite/etiologia , Polirradiculopatia/etiologia , Doenças do Sistema Nervoso/etiologia