Holoprosencephaly (HPE) : case report and review of the literature

Int J Surg Case Rep. 2023 Sep:110:108723. doi: 10.1016/j.ijscr.2023.108723. Epub 2023 Aug 26.

Abstract

Introduction: Holoprosencephaly (HPE) is a complex brain malformation resulting from a medial cleavage defect of the prosencephalon into right and left hemispheres, occurring during early embryonic development.

Case presentation: We report an alobar holoprosencephaly diagnosed on imaging (obstetrical ultrasound) and revealed by a polymalformative syndrome in an 8-month-old infant.

Discussion: Holoprosencephaly affects the forebrain and face, causing neurological manifestations and facial anomalies of varying severity. HPE is a cerebral midline anomaly.

Conclusion: Its fetal prognosis is extremely guarded, particularly for the alobar form.

Keywords: Brain; Fetal malformation; Holoprosencephaly.

Publication types

  • Case Reports