| Autor: |
M, Thibault, J, Leydet, E, Tournier-Lasserve, Y-J, Crow, F, Rivier, B, Echenne, C, Langlois, H, Daudet, P, Sarda, A, Roubertie |
| Jazyk: |
francouzština |
| Rok vydání: |
2010 |
| Předmět: |
|
| Zdroj: |
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 18(12) |
| ISSN: |
1769-664X |
| Popis: |
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. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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