Early two-stage repair of clefts in holoprosencephaly

Abstract

Holoprosencephaly (HPE) presents with a spectrum of severity, but in its totality is the most common malformation of the embryonic forebrain occurring 1 in 10,000 to 1 in 20,000 live births. Due to the poor prognosis, treatment of mid-face clefts in HPE patients have classically been addressed in a delayed fashion after 1-year of age. Improvements in the ability to manage medical complications associated with HPE along with an increased understanding and lower mortality rates in less severe forms have challenged these previous practiced routines. Accompanied by advances in understanding of HPE and identification of genes responsible for sporadic forms, we are able to better guide timing of surgical intervention. We present a patient with lobar HPE and a type IV facial deformity treated with early repair of the median facial cleft. We believe this treatment strategy was safe, given her relatively good prognosis. We propose that patients with HPE displaying less severe neural non-cleavage may be good candidates for earlier two-stage intervention. SummaryThe historically poor prognosis of patients with holoprosencephaly (HPE) has led to midline facial clefts have being addressed in a delayed fashion after 1-year of age. Improvements in the ability to manage medical complications associated with HPE and lower mortality rates in less severe forms have challenged these previous practiced routines. Additionally, the identification of genes responsible for sporadic forms of HPE can better guide timing of surgical intervention and improve developmental outcomes. We present a patient with lobar HPE and a type IV facial deformity treated with an early two-stage repair of the median facial cleft. We propose patients with HPE displaying less severe neural non-cleavage may be good candidates for earlier intervention.