title: [Lowe syndrome revealed by prenatal diagnosis of congenital cataract with brain abnormalities].
abstract: Congenital cataract is a rare disease whose incidence is estimated to 0.5% of birth in France. A study of the literature shows that congenital cataract is idiopathic in 50% of cases, hereditary forms representing 25% of cases. Other causes of congenital cataract are represented by viral embryofoetopathies acquired during pregnancy, metabolic disorders and chromosomal aberrations within the scope of malformative syndromes. The authors report the case of a neonatal diagnosis of Lowe syndrome suspected by the discovery of bilateral cataract initially isolated. The morphological exploration was completed by secondary brain abnormalities (periventricular lesions). The etiological prenatal exploration was negative. Lowe syndrome is a rare cause of antenatal cataract, which so far only one case has been reported.
authors.affiliation: Service d'échographie et de diagnostic anténatal, hôpital Paule-de-Viguier, 330, avenue de Grande-Bretagne, TSA 70034, 31059 Toulouse cedex 9, France. Electronic address: pascal.zephir@free.fr.
authors.forename: P
authors.initials: P
authors.lastname: Zéphir
authors.affiliation: Service de néphrologie pédiatrique médecine interne et HTA, hôpital des Enfants, 330, avenue de Grande-Bretagne, TSA 70034, 31059 Toulouse cedex 9, France.
authors.forename: S
authors.initials: S
authors.lastname: Decramer
authors.affiliation: Service d'échographie et de diagnostic anténatal, hôpital Paule-de-Viguier, 330, avenue de Grande-Bretagne, TSA 70034, 31059 Toulouse cedex 9, France.
authors.forename: A
authors.initials: A
authors.lastname: Sartor
authors.affiliation: Service d'échographie et de diagnostic anténatal, hôpital Paule-de-Viguier, 330, avenue de Grande-Bretagne, TSA 70034, 31059 Toulouse cedex 9, France.
authors.forename: C
authors.initials: C
authors.lastname: Vayssière
mesh_terms: D002386:Cataract / Q000151:congenital* / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005602:France; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D009800:Oculocerebrorenal Syndrome / Q000150:complications*; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis; D016216:Ultrasonography, Prenatal; D055815:Young Adult
chemical_list: D010744:Phosphoric Monoester Hydrolases; C075695:OCRL protein, human
keywords: Cataracte congénitale; Congenital cataract; Grossesse; Lowe syndrome; Pregnancy; Syndrome de Lowe