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- PMID: 21963371
- UKPMCID: 21963371
- DOI: 10.1016/j.arcped.2011.08.009
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[Genetic syndromes that mimic congenital infections: Report of 2 cases.]
Thibault, M; Leydet, J; Tournier-Lasserve, E; Crow, Y-J; Rivier, F; Echenne, B; Langlois, C; Daudet, H; Sarda, P; Roubertie, A
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 2011;.
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Full-text held externally
- PMID: 21963371
- UKPMCID: 21963371
- DOI: 10.1016/j.arcped.2011.08.009
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.