Rare Triad of Midline Craniofacial Defects: A Case Report

Praveen  Thirumal; Ramakrishna Nalluri; Sai Praneetha Sagi

doi:10.18502/jcr.v12i3.20631

Praveen Thirumal Department of Radio-Diagnosis, Nizam’s Institute of Medical Sciences, Hyderabad, Telangana, India.
Ramakrishna Nalluri Department of Radio-Diagnosis, Nizam’s Institute of Medical Sciences, Hyderabad, Telangana, India.
Sai Praneetha Sagi Department of Radio-Diagnosis, Nizam’s Institute of Medical Sciences, Hyderabad, Telangana, India.

DOI: https://doi.org/10.18502/jcr.v12i3.20631

Keywords: Basal encephalocele; Agenesis of corpus callosum; Morning glory syndrome; Craniofacial malformations; Sakoda complex.

Abstract

Midline craniofacial anomalies are rare malformations that may occur in isolation or as part of syndromic associations. Among them, the coexistence of basal encephalocele, agenesis of the corpus callosum, and Morning Glory Syndrome (MGS) is exceptionally rare, with only a handful of cases described in the literature. We report the case of a 7-year-old female with hypertelorism, cleft lip and palate, and an intraoral swelling. MRI demonstrated sphenoethmoidal encephalocele, complete agenesis of the corpus callosum, right ocular coloboma, and a posterior fossa arachnoid cyst. Fundus examination revealed characteristic features of MGS in the right eye. Genetic testing including whole-exome sequencing, mitochondrial sequencing, and chromosomal microarray was normal, supporting a sporadic occurrence. The patient underwent staged surgical interventions, including Millard’s rotation–advancement cheiloplasty and transcranial repair of the basal encephalocele. Supportive visual management with refractive correction and multidisciplinary rehabilitation was initiated. Basal encephaloceles account for less than 1.5% of all encephaloceles and are frequently associated with midline craniofacial anomalies. MGS, although typically sporadic, may coexist with midline craniofacial and intracranial defects, reflecting a common embryological pathway of failed midline closure. The presence of this triad resembles features of the Sakoda complex. Despite normal genetic results in our case, prior studies implicate genes such as PAX6, OTX2, and SOX2 in similar overlapping phenotypes. MRI remains the gold standard for evaluating intracranial extension and associated anomalies, while CT is essential for delineating the bony defect for surgical planning. This report adds to the scarce literature on the rare triad of sphenoethmoidal encephalocele, corpus callosal agenesis, and MGS. Comprehensive imaging, early surgical repair, supportive ophthalmic care, and multidisciplinary follow-up are essential for optimizing long-term outcomes.