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1.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 34(2): 236-239, 2017 Apr 10.
Artigo em Chinês | MEDLINE | ID: mdl-28397227

RESUMO

OBJECTIVE: To report on a sporadic case of Lowe syndrome diagnosed prenatally with ultrasound examination and genetic testing. METHODS: Detailed sonographic fetal screening was performed by an experienced sonographer at 32 weeks of gestation. Fetal cranial magnetic resonance imaging (MRI) was applied to detect potential brain abnormality. Chromosomal microarray analysis (CMA) was conducted on amniotic fluid sample from the fetus and peripheral blood sample from the mother. RESULTS: Congenital cataract and enlarged posterior fossa were detected by fetal ultrasound screening. Fetal cranial MRI found hypoplasia of the gyrus. CMA revealed that the fetus has carried a 633 kb deletion at Xq25-26.1 which encompassed the OCRL gene. The mother was a carrier of the same deletion. Clinical examination after birth confirmed that the neonate was affected with Lowe syndrome in addition with an atrial septal defect. CONCLUSION: Prenatal diagnosis of Lowe syndrome without a family history largely depends on fetal imaging. Should cataract be found by ultrasound screening, fetal MRI may be considered to rule out central nervous system anomalies. CMA assay should also be considered to facilitate the diagnosis.


Assuntos
Doenças Fetais/genética , Síndrome Oculocerebrorrenal/genética , Adulto , Criança , Pré-Escolar , Deleção Cromossômica , Cromossomos Humanos X/genética , Feminino , Doenças Fetais/diagnóstico , Humanos , Lactente , Masculino , Análise em Microsséries , Síndrome Oculocerebrorrenal/diagnóstico , Síndrome Oculocerebrorrenal/embriologia , Monoéster Fosfórico Hidrolases/genética , Gravidez , Diagnóstico Pré-Natal , Ultrassonografia Pré-Natal
2.
Klin Wochenschr ; 55(3): 141-4, 1977 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-556788

RESUMO

A high-risk pregnancy for X-linked recessive inherited Lowe's syndrome was terminated due to a male karyotype in the cultured amniotic fluid cells. The eyes of the male fetus showed specific cataracteous changes of the lens. A posterior lenticonus was due to a defect of the lens capsule. The lenses were of normal size. Loss of lens material through a lens capsule defect could account for the small discoid lens usually seen in Lowe's syndrome. Amino acids in amniotic fluid had normal concentrations except lysine and proline which were markedly elevated.


Assuntos
Catarata/embriologia , Síndrome Oculocerebrorrenal/embriologia , Erros Inatos do Transporte Tubular Renal/embriologia , Aminoácidos/análise , Amniocentese , Líquido Amniótico/análise , Catarata/patologia , Feminino , Humanos , Cristalino/patologia , Masculino , Síndrome Oculocerebrorrenal/diagnóstico , Síndrome Oculocerebrorrenal/patologia , Gravidez
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