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Early two-stage repair of clefts in holoprosencephaly
Timothy M Rankin1, Brian Mailey2, Ahmad Saad2
1Division of Plastic Surgery, University of Arizona, 1501 N. Campbell Ave, Room 4402, Tucson, AZ, 85724, USA.
Insights
Early surgical repair of median facial clefts in patients with less severe holoprosencephaly (HPE) may be safe and improve outcomes. This challenges traditional delayed treatment approaches for HPE, offering new possibilities for intervention.
Area of Science:
- Craniofacial Surgery
- Pediatric Neurosurgery
- Developmental Biology
Background:
- Holoprosencephaly (HPE) is the most common forebrain malformation, historically treated with delayed surgical intervention for facial clefts due to poor prognosis.
- Advances in managing HPE complications and understanding less severe forms have prompted reevaluation of traditional treatment timelines.
- Genetic identification for sporadic HPE aids in guiding surgical timing and improving developmental trajectories.
Observation:
- A case study of a patient with lobar HPE and a type IV facial deformity undergoing early repair of a median facial cleft.
- The patient's relatively good prognosis supported the safety and feasibility of an early, two-stage surgical intervention.
Findings:
- Early two-stage repair of the median facial cleft in this lobar HPE patient was deemed safe.
- This approach challenges the conventional delayed surgical treatment for HPE-associated facial clefts.
Implications:
- Patients with less severe neural non-cleavage in HPE may benefit from earlier surgical intervention.
- This strategy could lead to improved developmental outcomes for select HPE patients.
- Revising surgical timing protocols for HPE may enhance patient management and long-term results.
Unlabelled:
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.
Summary:
The 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.
