Semilobar holoprosencephaly with cebocephaly associated with maternal early onset preeclampsia: a case report

The term holoprosencephaly was proposed by DeMyer and Zeman. It is a developmental defect of the embryonic forebrain with heterogeneous etiology including genetic and environmental factors. It is commonly associated with midfacial defects and has a spectrum of presentations. There are four types: alobar, semilobar, lobar, and variant. Holoprosencephaly is relatively rare. The overall prevalence in a multicenter study was 1 in 13,000 to 18,000 live births. However, the presentation of holoprosencephaly with cebocephaly, micropenis, agenesis of middle phalanges of the fifth finger, and postaxial polydactyly in association with early onset preeclampsia is extremely rare. We report a case with a constellation of the above congenital anomalies.

A 34-year-old gravida II para l woman presented to Felege Hiwot Referral Hospital with the diagnosis of semilobar holoprosencephaly and early onset preeclampsia with severity features. The gestational age at admission was 26 + 3 weeks. She is Amhara by ethnicity. The pregnancy was from a non-consanguineous marriage. She presented with the complaints of severe and persistent headache associated with blurring of vision and generalized body swelling. After she was stabilized, she and her husband were counselled and termination was decided. She gave birth after three doses of 100 microgram misoprostol given vaginally every 3 hours. The outcome was 1.1 kg male neonate; there were associated dysmorphic features of holoprosencephaly such as cebocephaly, micropenis, and postaxial polydactyl with agenesis of middle phalanges of the fifth finger. Only basic care was given and the neonate died after 20 minutes' stay in our neonatal intensive care unit. The mother was counselled to have preconception and antenatal screening in her next pregnancy. She left the hospital relatively well.

In women with a history of holoprosencephaly or holoprosencephaly in the current pregnancy, antenatal workups should include workup for fetal chromosomal disorders and metabolic workup for maternal preeclampsia. Sonographic diagnoses of holoprosencephaly always need a careful search for other congenital anomalies. In the severe forms, early termination should be counseled for its poor prognosis. Associated severe congenital anomalies and severe morbidities of the survivor can be discussed while counselling.