A Case of Septo-Optic Dysplasia-Schizencephaly Complex.
- Author:
Hyo Sook AHN
1
;
Bang Kyun AHN
;
Hong Joo HAN
Author Information
1. Department of Ophthalmology, College of Medicine Chonbuk National University, Chonju, Korea.
- Publication Type:Case Report
- Keywords:
agenesis of septum pellucidum;
optic nerve hypoplasia;
schizencephaly
- MeSH:
Brain;
Counseling;
Diagnosis;
Humans;
Lissencephaly;
Malformations of Cortical Development;
Neurologic Manifestations;
Optic Nerve;
Parents;
Seizures;
Septo-Optic Dysplasia;
Septum Pellucidum;
Vision Disorders
- From:Journal of the Korean Ophthalmological Society
1993;34(1):70-74
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Septo-optic dysplasia is diagnosed when optic nerve hypoplasia is combined with dysgenesis of the septum pellucidum and nearly two-thirds of them have hypothalamic-pituitary dysfunction. A number of these patients have schizencephaly and usually present seizures. The migrational disorders including schizencephaly, lissencephaly, heterotopia and polymicrogyria are a rare group of congenital malformations of the brain Septo-optic dysplasia-schizencephaly complex is frequently associated with endocrinolo gic, ophthalmologic, and neurologic symptoms and signs. We recently experienced a case of septo-optic dysplasia-schizencephaly, who showed severe visual impairment associated nystagmus and bilateral optic nerve hypoplasia agenesis of septum pellucidum with schizencephaly and hypsarrythmia. Because some forms of migrational disorders and septo-optic dysplasia can be inherited, parental counseling is essential for the accurate diagnosis.