[Holoprosencephaly: Foetopathologic study of 15 cases]

ABSTRACT

Holoprosencephaly [HPE] is a rare and serious brain anomaly of heterogeneous aetiology. Description of neuropathologic patterns of HPE to eventually integrate it into recognized syndrome. The authors report 15 cases of HPE, examined at the department of pathology of Sousse [Tunisia] over a period of 11 years. 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 [3 case] 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. 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