RESUMO
The authors summarize the pathomechanism of the myelination process, the clinical, radiological and the genetical aspects of the leukodystrophies, as in 18q deletion syndrome, adrenoleukodysrtophy, metachromatic leukodystrophy, Pelizaeus-Merzbacher leukodystrophy, Alexander disease and olivo-ponto-cerebellar atrophy (OPCA).
Assuntos
Encéfalo/patologia , Cromossomos Humanos Par 18 , Deleção de Genes , Leucodistrofia Metacromática/diagnóstico , Leucodistrofia Metacromática/genética , Imageamento por Ressonância Magnética , Adrenoleucodistrofia/diagnóstico , Adrenoleucodistrofia/genética , Adulto , Doença de Alexander/diagnóstico , Doença de Alexander/genética , Encéfalo/diagnóstico por imagem , Doença de Canavan/diagnóstico , Doença de Canavan/genética , Pré-Escolar , Feminino , Humanos , Lactente , Leucodistrofia Metacromática/diagnóstico por imagem , Masculino , Doença de Pelizaeus-Merzbacher/diagnóstico , Doença de Pelizaeus-Merzbacher/genética , Radiografia , Tomografia Computadorizada de Emissão de Fóton ÚnicoRESUMO
We present a Hungarian girl with microcephaly, microphthalmia, congenital cataract, prominent nasal root, peaked nose, micrognathia with high arched palate, mild mental retardation, calcification of the basal ganglia and serology for the connatal infections. We suggest that our proband may be an allelic variant of COFS syndrome.
Assuntos
Doenças dos Gânglios da Base , Catarata/congênito , Microcefalia , Microftalmia , Adolescente , Doenças dos Gânglios da Base/diagnóstico por imagem , Encéfalo/diagnóstico por imagem , Calcinose , Diagnóstico Diferencial , Feminino , Humanos , Síndrome , Tomografia Computadorizada por Raios XRESUMO
The genetical types were classified according to the clinical findings and biochemical results in cases of 13 newborn/children suffering from various aminoacidopathies. The genetical types were: 3 neonatal and 4 infantile types were found out of 7 non-ketotic disease (MSUD) patient was infantile type with 9.1 per cent keto acid decarboxylase activity in leukocyte homogenate. Among the 3 histidinemic patients 1 was severe neonatal type and 2 cases were chronic types. The 2 treated tyrosinemic children proved to be type III. (chronic with rickets).
Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/metabolismo , Erros Inatos do Metabolismo dos Aminoácidos/genética , Feminino , Histidina/sangue , Humanos , Hiperglicemia/genética , Hiperglicemia/metabolismo , Lactente , Recém-Nascido , Masculino , Doença da Urina de Xarope de Bordo/genética , Doença da Urina de Xarope de Bordo/metabolismo , Tirosina/sangueRESUMO
Authors report on a Bicarnesine replacement therapy in an infant girl patient suffering from carnitine deficient myopathy diagnosed at 1 year of age. The hypotonic patient's motoric functions improved and she became able to walk as a result of therapy applied, but the pathological process generalized to encephalomyopathy. Free and esterified carnitine were determined from the serum and muscle biopsymaterial. After the Bicarnesine-supplementation the serum carnitine fractions elevated.