Complete sex reversal in a WAGR syndrome patient.

The WAGR contiguous gene deletion syndrome is a combination of Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation. Children with WAGR syndrome invariably have a constitutional chromosomal deletion at 11p13. WT1 haploinsufficiency is associated with a significant risk of Wilms tumor while PAX6 haploinsufficiency lead to aniridia, both genes located in the deleted region. The 46,XY patients with WAGR syndrome are often born with genital abnormalities such as cryptorchidism or hypospadias but more rarely ambiguous genitalia. To our knowledge, complete sex reversal has never been observed in WAGR syndrome patients. Here, we report on the clinical, cytogenetic, and molecular characterization of a child with WAGR syndrome and complete sex reversal. The young girl had female external and internal genitalia with normal uterus and fallopian tubes while the ovaries were not observed. Chromosomal analysis showed a 46,XY,del(11)(p12p14.1) karyotype. A 1-Mb resolution array CGH experiment estimated the size of the interstitial deletion at approximately 10 Mb encompassing WT1 and PAX6. The entire coding regions of WT1 and SRY have been sequenced and no mutation has been identified. Frasier syndrome (FS) and Denys-Drash syndrome (DDS) are two disorders associated with mutations in the WT1 gene. Complete sex reversal is a feature usually present in FS and sometimes in DDS, but until now never observed in WAGR syndrome. The present report suggests that these conditions may be considered as part of the spectrum of disease due to WT1 gene alterations.

[Evaluation of the visual disorders of the children]. / Evaluation du comportement visuel et de la réfraction chez l'enfant.

The refractive error and the strabismus are the most frequent of the visual abnormalities of the children. Without early treatment a high bilateral refractive error produces a bilateral amblyopia. The asymmetric refractive error and the strabismus can produce unilateral amblyopia when the treatment is delayed (glasses for the first and glasses and alternative fixation for the last). The early diagnosis is necessary to a preventive action. The search of these anomalies is systematic when the family has history of amblyopia or strabismus. Sometimes, a strabismus is the first manifestation of a severe visual abnormality, the ophthalmologist must quickly examinate all the children with a strabismus. The other high abnormalities of visual function (cataracte, glaucoma, retinal disease) cause a comportemental dysfunction and/or involve ocular modifications. Most of these visual manifestations are diagnosed with an attentive easy examination of the children.