Rare Triad of Midline Craniofacial Defects: A Case Report
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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. Keywords: Basal encephalocele; Agenesis of corpus callosum; Morning glory syndrome; Craniofacial malformations; Sakoda complex.
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3. Alba B, Harmon KA, La-Anyane O, Tragos C: Median craniofacial hypoplasia. J Craniofac Surg. 2025;36(1):237-40. doi:10.1097/SCS.0000000000010774. Epub 2024 Oct 17
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6. Hope-Ross M, Johnston SS: The morning glory syndrome associated with sphenoethmoidal encephalocele. Ophthalmic Paediatr Genet. 1990;11(2):147-53
7. Pal NL, Juwarkar AS, Viswamitra S: Encephalocele: know it to deal with it. Egypt J Radiol Nucl Med. 2021;52:105
8. Caprioli J, Lesser RL: Basal encephalocele and morning glory syndrome. Br J Ophthalmol. 1983;67(6):349-51
9. Barkovich AJ, Raybaud C: Pediatric Neuroimaging, 6th Edition. Philadelphia: Wolters Kluwer, 2019
10. Okumura A, Hayakawa F, Kato T, Kuno K, Watanabe K: Basal encephalocele with ocular anomalies: clinical spectrum and embryogenesis. Brain Dev. 1996;18(5):307-11
11. Itakura H, Takahashi Y, Okuno T, Nakazawa M: Bilateral morning glory syndrome associated with sphenoidal encephalocele, agenesis of the corpus callosum and median cleft lip. Brain Dev. 1992;14(6):381-4
12. Koenig SB, Naidich TP, Lissner G: The morning glory syndrome associated with sphenoidal encephalocele. Ophthalmology. 1982;89(12):1368-73
13. Morioka M, Marubayashi T, Masumitsu T, Miura M, Ushio Y: Basal encephaloceles with morning glory syndrome, and progressive hormonal and visual disturbances: case report and review of the literature. Brain Dev. 1995;17(3):196-201
14. Leitch RJ, Winter RM: Midline craniofacial defects and morning glory disc anomaly: a distinct clinical entity. Acta Ophthalmol Scand Suppl. 1996;219:16-9
15. Dempsey MA, Torres-Martinez W, Walsh LE: Two cases further delineating the Sakoda complex. Am J Med Genet A. 2007;143(4):370-6
2. Aaron R, Chellappa RK, Danda S: Analysis of phenotypic characteristics and mutation patterns in syndromic craniofacial anomalies: insights from a tertiary care medical genetics unit in South India. J Cleft Lip Palate Craniofac Anomal. 2024;11(2):73-8
3. Alba B, Harmon KA, La-Anyane O, Tragos C: Median craniofacial hypoplasia. J Craniofac Surg. 2025;36(1):237-40. doi:10.1097/SCS.0000000000010774. Epub 2024 Oct 17
4. Chen J, Kanekar S: Advances in neuroimaging of the fetus and newborn. Clin Perinatol. 2022;49(1):1-17
5. Blaser S, Armstrong D: Congenital malformations of the face. In: Barkovich AJ, Raybaud C, editors: Pediatric Neuroimaging, 5th Edition, pp. 829-72. Philadelphia: Lippincott Williams & Wilkins, 2012
6. Hope-Ross M, Johnston SS: The morning glory syndrome associated with sphenoethmoidal encephalocele. Ophthalmic Paediatr Genet. 1990;11(2):147-53
7. Pal NL, Juwarkar AS, Viswamitra S: Encephalocele: know it to deal with it. Egypt J Radiol Nucl Med. 2021;52:105
8. Caprioli J, Lesser RL: Basal encephalocele and morning glory syndrome. Br J Ophthalmol. 1983;67(6):349-51
9. Barkovich AJ, Raybaud C: Pediatric Neuroimaging, 6th Edition. Philadelphia: Wolters Kluwer, 2019
10. Okumura A, Hayakawa F, Kato T, Kuno K, Watanabe K: Basal encephalocele with ocular anomalies: clinical spectrum and embryogenesis. Brain Dev. 1996;18(5):307-11
11. Itakura H, Takahashi Y, Okuno T, Nakazawa M: Bilateral morning glory syndrome associated with sphenoidal encephalocele, agenesis of the corpus callosum and median cleft lip. Brain Dev. 1992;14(6):381-4
12. Koenig SB, Naidich TP, Lissner G: The morning glory syndrome associated with sphenoidal encephalocele. Ophthalmology. 1982;89(12):1368-73
13. Morioka M, Marubayashi T, Masumitsu T, Miura M, Ushio Y: Basal encephaloceles with morning glory syndrome, and progressive hormonal and visual disturbances: case report and review of the literature. Brain Dev. 1995;17(3):196-201
14. Leitch RJ, Winter RM: Midline craniofacial defects and morning glory disc anomaly: a distinct clinical entity. Acta Ophthalmol Scand Suppl. 1996;219:16-9
15. Dempsey MA, Torres-Martinez W, Walsh LE: Two cases further delineating the Sakoda complex. Am J Med Genet A. 2007;143(4):370-6
| Files | ||
| Issue | Vol 12, No 3 (Summer 2025) | |
| Section | Case Report(s) | |
| Keywords | ||
| Basal encephalocele; Agenesis of corpus callosum; Morning glory syndrome; Craniofacial malformations; Sakoda complex. | ||
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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
How to Cite
1.
Thirumal P, N R, Sagi SP. Rare Triad of Midline Craniofacial Defects: A Case Report. J Craniomaxillofac Res. 2025;12(3):217-220.
