Septo-optic dysplasia with cerebellar hemiagenesis - a rare congenital malformation.
Keywords:
Septo-optic dysplasia, cerebellar hemiagenesis, De morsier syndrome.
Abstract
Septo-optic dysplasia (De morsier’s syndrome) is a rare congenital malformation of the central nervous system and represents a clinical spectrum rather than a specific entity. It is defined by any combination of pituitary hypoplasia with or without consequent panhypopituitarism,optic nerve hypoplasia and midline neurological abnormalities such as absent septum pellucidum and corpus collasum agenesis or thinning. Septo-optic dysplasia with associated cerebellar hemiagenesis is a much rarer congenital anomaly and may represent one end of this spectrum.
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References
REFERENCES
1. Kelberman D, Dattani MT. Genetics of septo-optic dysplasia. Pituitary. 2007; 10:393–407.
2. Patel L, McNally RJ, Harrison E, et al. Geographical distribution of optic nerve hypoplasia and septo-optic dysplasia in Northwest England. J Pediatr. 2006; 148:85–88.
3. Elster AB, McAnarney ER. Maternal age re septo-optic dysplasia. J Pediatr. 1979; 94:162–163.
4. McNay DE, Turton JP, Kelberman D, et al. HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism. J Clin Endocrinol Metab. 2007; 92:691–697.
5. Michaud J, Mizrahi EM, Urich H. Agenesis of the vermis with fusion of the cerebellar hemispheres, septo-optic dysplasia and associated anomalies. Report of a case. Acta Neuropathol. 1982; 56(3):161-6.
6. Barkovich AJ, Fram EK, Norman D. Septo-optic dysplasia: MR imaging. Radiology 1989; 171: 189-92.
7. Barkovich AJ, Norman D. Anomalies of the corpus callosum: correlation with further anomalies of the brain.AJNR 1988; 9: 493-501.
8. Sener RN. Septo-optic dysplasia associated with total absence of the corpus callosum: MR and CT features.Eur Radiol 1993 ; 3: 551-3.
9. Sener RN. Septo-Optic Dysplasia (De Morsier’s syndrome) associated with total callosal absence. Journal of Neuroradiology; 1996: 23: 79.
10. Lahat E, Strauss S, Tadmor R, Bistritzer T. Infantile spasms in patient with septo-optic dysplasia, partial agenesis of the corpus callosum and an interhemispheric cyst. ClinNeurol.Neurosurg; 1992; 94:165-7.
1. Kelberman D, Dattani MT. Genetics of septo-optic dysplasia. Pituitary. 2007; 10:393–407.
2. Patel L, McNally RJ, Harrison E, et al. Geographical distribution of optic nerve hypoplasia and septo-optic dysplasia in Northwest England. J Pediatr. 2006; 148:85–88.
3. Elster AB, McAnarney ER. Maternal age re septo-optic dysplasia. J Pediatr. 1979; 94:162–163.
4. McNay DE, Turton JP, Kelberman D, et al. HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism. J Clin Endocrinol Metab. 2007; 92:691–697.
5. Michaud J, Mizrahi EM, Urich H. Agenesis of the vermis with fusion of the cerebellar hemispheres, septo-optic dysplasia and associated anomalies. Report of a case. Acta Neuropathol. 1982; 56(3):161-6.
6. Barkovich AJ, Fram EK, Norman D. Septo-optic dysplasia: MR imaging. Radiology 1989; 171: 189-92.
7. Barkovich AJ, Norman D. Anomalies of the corpus callosum: correlation with further anomalies of the brain.AJNR 1988; 9: 493-501.
8. Sener RN. Septo-optic dysplasia associated with total absence of the corpus callosum: MR and CT features.Eur Radiol 1993 ; 3: 551-3.
9. Sener RN. Septo-Optic Dysplasia (De Morsier’s syndrome) associated with total callosal absence. Journal of Neuroradiology; 1996: 23: 79.
10. Lahat E, Strauss S, Tadmor R, Bistritzer T. Infantile spasms in patient with septo-optic dysplasia, partial agenesis of the corpus callosum and an interhemispheric cyst. ClinNeurol.Neurosurg; 1992; 94:165-7.
Published
2019-11-20
How to Cite
1.
Parry A, Wani AH, Gojwari TA, Shaheen F. Septo-optic dysplasia with cerebellar hemiagenesis - a rare congenital malformation. jms [Internet]. 2019Nov.20 [cited 2026Oct.2];22(2):39-1. Available from: http://ano.jmsskims.org/index.php/jms/article/view/454
Section
Case Reports
This work is licensed under a Creative Commons Attribution 4.0 International License.
