RESUMO
We report a case of Laurence-Moon-Bardet-Biedl Syndrome with all five recognised features: tapetoretinal dystrophy, polydactily, obesity, mental retardation and hypogonadism. Nevertheless the correct diagnosis was delayed due to the fact, that the patient has a macular dystrophy (instead of a pigmentary retinopathy). He had an operation of the polydactily during childhood. This was not revealed at first. The case underlines the importance of an exact anamnesis of the parents.
Assuntos
Aberrações Cromossômicas/diagnóstico , Anormalidades do Olho/diagnóstico , Genes Recessivos/genética , Síndrome de Laurence-Moon/diagnóstico , Adulto , Aberrações Cromossômicas/genética , Aberrações Cromossômicas/patologia , Transtornos Cromossômicos , Diagnóstico Diferencial , Anormalidades do Olho/genética , Anormalidades do Olho/patologia , Feminino , Angiofluoresceinografia , Humanos , Síndrome de Laurence-Moon/genética , Síndrome de Laurence-Moon/patologia , Masculino , Retina/patologia , Retinose Pigmentar/diagnóstico , Retinose Pigmentar/genética , Retinose Pigmentar/patologiaRESUMO
The present paper describes two cases, with the same type of zonular cataract associated with the rare disease of cerebrotendinous xanthomatosis. The disease is characterized by lipopexia in the Achilles' tendons, neurologic symptoms and low IQ. The mode of inheritance is autosomal recessive. The physiopathology and biochemistry of the disease are discussed with reference to recent publications.
Assuntos
Tendão do Calcâneo/anormalidades , Catarata/genética , Ataxia Cerebelar/genética , Xantogranuloma Juvenil/genética , Adolescente , Adulto , Consanguinidade , Feminino , Humanos , Hiperlipoproteinemia Tipo II/genética , Deficiência Intelectual/genética , Masculino , SíndromeRESUMO
Cerebrotendinous xanthomatosis occurred in a new family. This is a rare familial disorder characterized by juvenile cataracts, enlargement of tendons, low intelligence, and a variable neurological syndrome with cerebellar ataxia as the most prominent feature. The mode of inheritance is autosomal recessive. The basic defect remains obscure, but recent investigations have shown an excess of cholestanol in the tissues and serum of affected persons, which forms the basis of diagnosis.
