Syndromes génétiques mimant les infections congénitales: À propos de 2 cas

Translated title of the contribution: Genetic syndromes that mimic congenital infections: Report of 2 cases

M. Thibault, J. Leydet, E. Tournier-Lasserve, Y. J. Crow, F. Rivier, B. Echenne, C. Langlois, H. Daudet, P. Sarda, A. Roubertie

    Research output: Contribution to journalArticlepeer-review


    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. © 2011.
    Translated title of the contributionGenetic syndromes that mimic congenital infections: Report of 2 cases
    Original languageFrench
    Pages (from-to)1292-1296
    Number of pages4
    JournalArchives de Pediatrie
    Issue number12
    Publication statusPublished - Dec 2011


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