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Septo‐Optic Dysplasia Complicated by Infantile Spasms and Bilateral Choroidal Fissure Arachnoid Cysts
Author(s) -
Tas Emir,
Tracy Molly,
Sarco Dean P.,
Eksioglu Yaman Z.,
Prabhu Sanjay P.,
Loddenkemper Tobias
Publication year - 2011
Publication title -
journal of neuroimaging
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.822
H-Index - 64
eISSN - 1552-6569
pISSN - 1051-2284
DOI - 10.1111/j.1552-6569.2009.00453.x
Subject(s) - medicine , septum pellucidum , arachnoid cyst , optic nerve hypoplasia , pachygyria , cyst , optic nerve , anatomy , hypoplasia , dysplasia , pathology , lissencephaly , biochemistry , chemistry , gene
BACKGROUND AND PURPOSE Septo‐optic dysplasia (SOD) is the triad of optic nerve hypoplasia, panhypopituitarism, and agenesis of septum pellucidum, and has been described previously to be associated with heterotopias and midline interhemispheric cyst. We describe a case of SOD with arachnoid cysts, persistent primary hyperplastic vitreous, and malformations of cortical development.METHODS Case report and review of literature.RESULTS Our patient was found to have SOD, bilateral ventriculomegaly, pachygyria, gray matter heterotopia, bilateral choroidal cysts near the brainstem, and persistent primary hyperplastic vitreous. She later developed infantile spasms and required enucleation of the abnormal eye and cyst fenestration.CONCLUSION Coincidence of seizures, SOD, bilateral choroid fissure cysts, heterotopias, and persistent primary hyperplastic vitreous is a unique constellation. It is unclear whether this represents a new syndrome or SOD spectrum variation. Patients with SOD and arachnoid cysts should be monitored for signs of herniation.