VP53.09: Alobar holoprosencephaly: a case report

Le résumé fourni par la source

Holoprosencephaly is a rare brain abnormality resulting from an incomplete cleavage of the primitive prosencephalon of forebrain during early embryogenesis. It includes a series of rare complex and heterogenosis disorders. Facial anomalies are frequently associated, owing to the common origin of the embryonic forebrain and mid face from the prechordal mesoderm, along with some other anomalies. Holoprosencephaly is estimated to be 1 in 16000 live births and 1 in 250 spontaneous abortions. According with the degree of cerebral involvement are described alobar, semilobar and lobar variants of HPE. We report a case of a 30-year-old primigravida presented to the department of obstetrics and gynecology for a routine obstetric ultrasound examination. There wasn't a history of consanguinity of marriage. Ultrasonography revealed a single live intrauterine fetus of 14 weeks. A large monoventricle was noticed with centrally fused thalami and peripherally compressed cerebral parenchyma; interhemispheric fissure, falx cerebri and corpus callosum were completely absent; cyclopia and proboscis was noticed; the spine, heart, limbs and umbilical cord were sonologically normal; the amniotic fluid around the fetus was normal in quantity. Biological assessment as well as serology eliminated maternal diabetes and recent toxoplasmosis or rubella infection. Amniocentesis revealed a trisomy 13. Pregnancy termination was performed at 15 weeks with vaginal delivery of a dead male fetus. Fetal pathology examination showed facial abnormalities: macrocrania, cyclopia, proboscis and premaxillary agenesis; dissection confirmed alobar holoprosencephaly; trunk and limbs were normal. In general, the severity of any facial defect depends on the severity of the brain defect.

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