RESUMO
In a male neonate dysmaturity, microcephalia, a high nasal bridge, a long philtrum, broad dental ridges, schisis of the palatum molle, retrognathia, a small penis with a chorda, a small scrotum, bilateral inguinal hernia and bilateral syndactyly of the second and third toes were observed. The presence of the Smith-Lemli-Opitz (SLO) syndrome was suspected. By gas chromatography a severely decreased plasma cholesterol level (0.27 mmol/l) was found and an increased plasma 7-dehydrocholesterol level (0.24 mmol/l). The SLO syndrome is caused by a block in the cholesterol biosynthesis due to the autosomal recessive deficiency of 7-dehydrocholesterol reductase. The patient's condition improved with use of a cholesterol-enriched diet.
Assuntos
Colesterol/sangue , Oxirredutases atuantes sobre Doadores de Grupo CH-CH , Síndrome de Smith-Lemli-Opitz/sangue , Anormalidades Múltiplas , Colesterol/biossíntese , Cromatografia Gasosa , Desidrocolesteróis/sangue , Genes Recessivos , Humanos , Recém-Nascido , Masculino , Oxirredutases/genéticaAssuntos
Cardiomiopatia Dilatada/induzido quimicamente , Doxorrubicina/efeitos adversos , Insuficiência Cardíaca/induzido quimicamente , Neoplasias/tratamento farmacológico , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Cardiomiopatia Dilatada/diagnóstico , Criança , Pré-Escolar , Doxorrubicina/administração & dosagem , Feminino , Coração/efeitos dos fármacos , Humanos , MasculinoAssuntos
Mediastino/diagnóstico por imagem , Hiperplasia do Timo/diagnóstico por imagem , Fatores Etários , Biópsia , Criança , Pré-Escolar , Diagnóstico Diferencial , Feminino , Humanos , Lactente , Masculino , Radiografia , Timoma/diagnóstico , Timo/patologia , Hiperplasia do Timo/patologia , Neoplasias do Timo/diagnósticoRESUMO
A case of partial duplication of chromosome 1 (1q41-qter) and partial deletion of chromosome 9 (9p24-pter) with infantile congenital glaucoma is reported. The histopathology of the eyes is described. The clinical findings ascribed to trisomy 1q and partial monosomy 9p are summarized and compared to this case. As this is the second report of a patient with monosomy 9p24-pter and congenital glaucoma, it may indicate localization of a gene involved in congenital glaucoma in this region of the human genome.