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1.
Sudan Medical Monitor. 2008; 3 (2): 61-64
em Inglês | IMEMR | ID: emr-103626

RESUMO

Wilson disease is an autosomal recessive disease, characterized by excessive accumulation of copper in the body, particularly in the liver, brain, cornea and kidney, with variable clinical manifestations. The outcome of treatment depends on early diagnosis of the disease before major irreversible tissue destruction occurs. Early diagnosis might be difficult because of its diverse clinical manifestations. We herein report on a patient with severe clinical and imaging manifestations. The patient showed cerebral atrophy and extensive abnormalities in frontal lobes, the putamen, the thalami, cerebral peduncles and posterior aspects of the occipital lobes. Such wide spread changes involving the white matter as well as the gray matter is rarely reported


Assuntos
Humanos , Feminino , Degeneração Hepatolenticular/diagnóstico por imagem , Imageamento por Ressonância Magnética , Encéfalo/patologia , Atrofia , Lobo Frontal/patologia , Putamen/patologia , Tálamo/patologia , Lobo Occipital/patologia , Tegmento Mesencefálico/patologia
2.
Sudan Medical Monitor. 2008; 3 (3): 104-108
em Inglês | IMEMR | ID: emr-103634

RESUMO

We report herein two families with ataxia telangiectasia. Patients in both families fulfilled the diagnostic criteria and showed unusual presentations that are rarely reported in literature. No patient developed malignancy yet. To the best of our knowledge this is the first report on Ataxia telangiectasia from Sudan


Assuntos
Humanos , Masculino , Feminino , Família , Telangiectasia , Túnica Conjuntiva/patologia , Ataxia Cerebelar , Hipopigmentação
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