La Tunisie medicale · 2008
[Holoprosencephaly: foetopathologic study of 15 cases].
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Lahmar-Boufaroua Ahlem, Yacoubi Mohamed T, Mellouki Salem, Mokni Moncef, Korbi Sadok
Аннотация
BACKGROUND: Holoprosencephaly (HPE) is a rare and serious brain anomaly of heterogeneous aetiology.
AIMS: description of neuropathologic patterns of HPE to eventually integrate it into recognized syndrome
METHODS: The authors report 15 cases of HPE, examined at the department of pathology of Sousse (Tunisia) over a period of 11 years.
RESULTS: The average age of mothers was 32 years and 46% of them were primigestes. The rate of consanguinity was 45%. The population of the study was formed of 13 foeti, 12 of which arose from a medical interruption of pregnancy, and 2 newborns. The average foetal age was of 25,5 weeks of gestation. Antenatal diagnosis was performed on ultrasounds signs represented by a hydrocephalus (7 cases), a microcephaly (4 cases), a harmonious delay of growth (3cas) and a facial dysmorphy (38%) dominated by cyclopia. Neuropathologic Exam identified 13 cases of alobair HPE and 2 cases semi lobar. The HPE was isolated in 2 cases with an unknown caryotype, it was syndromic in 13 cases, associated with a chromosome abnormality confirmed in 3 observations.
CONCLUSION: The neonatal outcome of this deformation remains very poor justifying the interruption of pregnancy except in the lobar forms. An exhaustive domestic inquiry is compulsory to propose to parents a most adequate genetic counselling.
AIMS: description of neuropathologic patterns of HPE to eventually integrate it into recognized syndrome
METHODS: The authors report 15 cases of HPE, examined at the department of pathology of Sousse (Tunisia) over a period of 11 years.
RESULTS: The average age of mothers was 32 years and 46% of them were primigestes. The rate of consanguinity was 45%. The population of the study was formed of 13 foeti, 12 of which arose from a medical interruption of pregnancy, and 2 newborns. The average foetal age was of 25,5 weeks of gestation. Antenatal diagnosis was performed on ultrasounds signs represented by a hydrocephalus (7 cases), a microcephaly (4 cases), a harmonious delay of growth (3cas) and a facial dysmorphy (38%) dominated by cyclopia. Neuropathologic Exam identified 13 cases of alobair HPE and 2 cases semi lobar. The HPE was isolated in 2 cases with an unknown caryotype, it was syndromic in 13 cases, associated with a chromosome abnormality confirmed in 3 observations.
CONCLUSION: The neonatal outcome of this deformation remains very poor justifying the interruption of pregnancy except in the lobar forms. An exhaustive domestic inquiry is compulsory to propose to parents a most adequate genetic counselling.