title: [Genetic syndromes that mimic congenital infections: report of 2 cases].
abstract: Genetic syndromes that mimic congenital infections must be recognized because of the associated risk of recurrence. We describe a male infant who was born with the association of intra-uterine growth retardation, microcephaly, intracranial calcifications, white matter abnormalities, microphtalmy, bilateral cataract, and hearing loss. Congenital cytomegalovirus (CMV) infection was suspected, but serologic CMV markers were not decisive (IgG+/IgM-). His half-sister (same father) presented a similar phenotype. Therefore, the diagnosis of congenital CMV infection was questioned and a genetic hypothesis was suggested. In 1983, Baraitser et al. first described two brothers with microcephaly and intracranial calcifications and negative TORCH analysis. Later, a number of authors reported children in whom detailed investigation failed to objectively confirm an intra-uterine infective agent. Clinical features include severe postnatal microcephaly, seizures, and pronounced developmental arrest. These cases have been considered to define a distinct autosomal recessive disorder first named pseudo-Torch syndrome. The family described herein is different from the cases previously described with a suspected autosomal dominant inheritance, severe ophtalmological abnormalities, and unusual brain imaging.
authors.affiliation: Service de neuropédiatrie, CHU Gui-de-Chauliac, Montpellier, France. mariellet88@gmail.com
authors.forename: M
authors.initials: M
authors.lastname: Thibault
authors.forename: J
authors.initials: J
authors.lastname: Leydet
authors.forename: E
authors.initials: E
authors.lastname: Tournier-Lasserve
authors.forename: Y-J
authors.initials: YJ
authors.lastname: Crow
authors.forename: F
authors.initials: F
authors.lastname: Rivier
authors.forename: B
authors.initials: B
authors.lastname: Echenne
authors.forename: C
authors.initials: C
authors.lastname: Langlois
authors.forename: H
authors.initials: H
authors.lastname: Daudet
authors.forename: P
authors.initials: P
authors.lastname: Sarda
authors.forename: A
authors.initials: A
authors.lastname: Roubertie
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D020274:Autoimmune Diseases of the Nervous System / Q000151:congenital* / Q000235:genetics; D001921:Brain / Q000002:abnormalities; D002114:Calcinosis / Q000235:genetics; D002386:Cataract / Q000235:genetics; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D034381:Hearing Loss / Q000235:genetics; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000235:genetics; D009421:Nervous System Malformations / Q000235:genetics; D012307:Risk Factors; D012640:Seizures / Q000235:genetics; D035781:Siblings