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Bol Med Hosp Infant Mex ; 50(12): 885-8, 1993 Dec.
Artigo em Espanhol | MEDLINE | ID: mdl-8110408

RESUMO

Tuberous sclerosis is a neurocutaneous disease characterized of mental retardation, facial fibroangiomas, hypochromic stain and seizures. Is presented a case of a newborn that in the third day of life presenting seizures and in the physical exam show hypochromic CT scans irregular of 3-10 mm in thorax and limbs. The seizures presented during hospitalization were tonics, it was need treatment with three anticonvulsants for the control; the parents studies were normal. Magnetic resonance showed characteristic images of this pathology like nodular subependymal lesions, hyperintense, in lateral ventricles and a cortical tuberous lesion in the right frontal region. Tuberous sclerosis has a dominant autosomic transmission; the defect is in the chromosome 9, the prenatal diagnosis is not possible and 50-80% the of case are mutations. Affect a different organs as skin, eyes, heart, brain, kidney, bone and lung. The prognostic is variable and death is caused for epileptic state, brain tumor, heart failure, renal or intercurrent infection. The magnetic resonance imaging is the landmark study for diagnosis of this pathology of ample use in the present.


Assuntos
Encéfalo/patologia , Imageamento por Ressonância Magnética , Esclerose Tuberosa/diagnóstico , Aberrações Cromossômicas/diagnóstico , Aberrações Cromossômicas/genética , Transtornos Cromossômicos , Cromossomos Humanos Par 9 , Eletroencefalografia , Humanos , Recém-Nascido , Masculino , Convulsões/diagnóstico , Convulsões/etiologia , Convulsões/genética , Esclerose Tuberosa/complicações , Esclerose Tuberosa/genética
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