[P2-38] Septo-optic dysplasia: Spectrum of clinical Features of Patients with and without Schizencephaly
Background: Septo-optic dysplasia (SOD) is a rare congenital malformation characterized by agenesis of septum pellucidum, optic nerve hypoplasia and pituitary dysfunction. There are wide ranges of clinical manifestations and associated findings in these patients.
Objective: To describe and analyze the clinical manifestations and associated findings in patients with SOD with and without schizencephaly.
Methods: A retrospective study of children with SOD at Siriraj Hospital was performed. Children aged 0-18 years with diagnosis of SOD from January 1999 to December 2015 were included in the study. Diagnosis of SOD was made with the presence of 2 or more features of classic triad of (i) agenesis of septum pellucidum, (ii) optic nerve hypoplasia and (iii) hypothalamic-pituitary dysfunction. Presenting symptoms, clinical features, associated findings and hormonal assessment were collected and retrieved in a standard case record form.
Result: There were 60 patients diagnosed with SOD during the study period. 36 were female and the median age at the presentation was 7 months (range 2.9 - 36.2 mo.) 58 patients (97%) had optic nerve hypoplasia, 56 (93%) had agenesis of septum pellucidum, and 45 (75%) had pituitary hormone abnormalities. The most common presenting symptoms were visual impairment (67%), developmental delay (43%) and microcephaly (33%). 21 (35%) patients had complete classic triad. 32 patients (53%) had schizencephaly (18 with bilateral schizencephaly). Patients with schizencephaly (especially those with bilateral schizencephaly) have higher incidence of microcephaly, motor impairment and intractable epilepsy compared to those without. Patients without schizencephaly have higher incidence of at least one pituitary hormone abnormalities than those with schizencephaly: 60.7% and 31.3% respectively, (p = 0.04).
Conclusion: This study shows the difference in clinical features of SOD between those with and without schizencephaly. While SOD with schizencephaly have a worse neurological deficit, SOD without schizencephaly have higher incidence of pituitary hormone abnormalities.
Keyword: Septo-optic dysplasia, schizencephaly, septum pellucidum agenesis, optic nerve hypoplasia
Objective: To describe and analyze the clinical manifestations and associated findings in patients with SOD with and without schizencephaly.
Methods: A retrospective study of children with SOD at Siriraj Hospital was performed. Children aged 0-18 years with diagnosis of SOD from January 1999 to December 2015 were included in the study. Diagnosis of SOD was made with the presence of 2 or more features of classic triad of (i) agenesis of septum pellucidum, (ii) optic nerve hypoplasia and (iii) hypothalamic-pituitary dysfunction. Presenting symptoms, clinical features, associated findings and hormonal assessment were collected and retrieved in a standard case record form.
Result: There were 60 patients diagnosed with SOD during the study period. 36 were female and the median age at the presentation was 7 months (range 2.9 - 36.2 mo.) 58 patients (97%) had optic nerve hypoplasia, 56 (93%) had agenesis of septum pellucidum, and 45 (75%) had pituitary hormone abnormalities. The most common presenting symptoms were visual impairment (67%), developmental delay (43%) and microcephaly (33%). 21 (35%) patients had complete classic triad. 32 patients (53%) had schizencephaly (18 with bilateral schizencephaly). Patients with schizencephaly (especially those with bilateral schizencephaly) have higher incidence of microcephaly, motor impairment and intractable epilepsy compared to those without. Patients without schizencephaly have higher incidence of at least one pituitary hormone abnormalities than those with schizencephaly: 60.7% and 31.3% respectively, (p = 0.04).
Conclusion: This study shows the difference in clinical features of SOD between those with and without schizencephaly. While SOD with schizencephaly have a worse neurological deficit, SOD without schizencephaly have higher incidence of pituitary hormone abnormalities.
Keyword: Septo-optic dysplasia, schizencephaly, septum pellucidum agenesis, optic nerve hypoplasia