Septo-optic dysplasia, arachnoid cyst of the quiadrigeminal cistern and hydrocephalus
##plugins.themes.bootstrap3.article.sidebar##
##plugins.themes.bootstrap3.article.main##
Abstract
Septo-optic dysplasia (SOD), also referred to as de Morsier syndrome, is a rare congenital condition, being defined by the association of two out of three features: optic nerve hypoplasia, midline abnormalities and hypothalamic-pituitary endocrine deficiencies. Arachnoid cysts area a common association with other midline malformations of the brain, most notably agenesis of the corpus callosum or holoprosencephaly. They are present in 12,5% of the patients with SOD. We describe the case of a 1-year-old infant with septo-optic dysplasia in whom a quadrigeminal cistern arachnoid cyst with hydrocephalus was detected. We consider it to be the first case described in which these pathologies occur at the same time and we make a brief review of their most relevant aspects
##plugins.themes.bootstrap3.article.details##
Septo-optic dysplasia, quadrigeminal cistern, arachnoid cyst, hydrocephalus, ventriculoscopy
Fard MA, Wu-Chen WY, Man BL, Miller NR. Septo-optic dysplasia. Pediatr Endocrinol Rev. 2010; 8: 18-24.
Tas E, Tracy M, Sarco DP, Eksioglu YZ, Prabhu SP, Loddenkemper T. Septo-optic dysplasia complicated by infantile spasms and bilateral choroidal fissure arachnoid cysts. J Neuroimaging. 2011; 21: 89-91. DOI: https://doi.org/10.1111/j.1552-6569.2009.00453.x
Ferran K, Paiva IA, Gilban DL, Resende M, Souza MA, Beserra IC, et al. Septo-optic dysplasia. Arq Neuropsiquiatr 2010; 68: 400-5. DOI: https://doi.org/10.1590/S0004-282X2010000300014
Kelberman D, Dattani MT. Septo-optic dysplasia - novel insights into the aetiology. Horm Res. 2008; 69: 257-65 DOI: https://doi.org/10.1159/000114856
Campbell CL. Septo-optic dysplasia: a literatura review. Opto- metry 2003; 74: 417-426.
Polizzi A, Pavone P, Iannetti P, Manfré L, Ruggieri M. Septo- optic dysplasia complex: a heterogeneous malformation syndrome. Pediatr Neurol. 2006; 34: 66-71. DOI: https://doi.org/10.1016/j.pediatrneurol.2005.07.004
Ganau M, Huet S, Syrnos N, Meloni M, Jayamohan J. Neuro-Ophthalmological Manifestations of Septo-Optic Dysplasia: current Perspectives. Eye Brain 2019; 11: 37-47. DOI: https://doi.org/10.2147/EB.S186307
Alt C, Shevell M, Poulin C, Rosenblatt B, Saint-Martin C, Srour M. clinical and radiologic spectrum of septo-optic dysplasia: review of 17 cases. J Child Neurol. 2017; 32: 797-803. DOI: https://doi.org/10.1177/0883073817707300
Lyons C, Castano G, Jan JE, Sargent M. Optic nerve hypoplasia with intracranial arachnoid cyst. J AAPOS 2004; 8: 61-6. DOI: https://doi.org/10.1016/j.jaapos.2003.08.007
Haddad NG, Eugster EA. Hypopituitarism and neurodevelopmental abnormalities in relation to central nervous system structural defects in children with optic nerve hypoplasia. J Pediatr Endocrinol Metab 2005 Sep; 18: 853-8. DOI: https://doi.org/10.1515/JPEM.2005.18.9.853
Lahat E, Strauss S, Tadmor R, Bistritzer T. Infantile spasms in a patient with septooptic dysplasia, partial agenesis of the corpus callosum and an interhemispheric cyst. Clin Neurol Neurosurg 1992; 94: 165-7. DOI: https://doi.org/10.1016/0303-8467(92)90076-F
Cinalli G, Spennato P, Columbano L, Ruggiero C, Aliberti F, Trischitta V, et al. Neuroendoscopic treatment of arachnoid cysts of the quadrigeminal cistern: a series of 14 cases. J Neurosurg Pediat. 2010; 6: 489-97. DOI: https://doi.org/10.3171/2010.8.PEDS08491
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
