Abstract Details

Title Epileptic Spasms in Septo-Optic Dysplasia: A Retrospective Cohort Study

Topic Child Neurology and Developmental Neurology

Presentation(s) P2 - Poster Session 2 (8:00 AM-9:00 AM)

Poster/Presentation
Number 6-006

Objective To assess the prevalence and clinical characteristics of epileptic spasms (ES) in patients with septo-optic dysplasia (SOD) and contribute to the limited understanding of this rare association, including its neurodevelopmental and neuroimaging correlations.

Background SOD is a rare congenital disorder defined by a triad of optic nerve hypoplasia (ONH), pituitary dysfunction, agenesis of the septum pellucidum or corpus callosum. While its hallmark features are well-documented, the occurrence of ES in individuals with SOD has been infrequently reported, leaving gaps in our understanding of its incidence and clinical implications in this population.

Design/Methods A retrospective chart review was conducted on patients aged <21 years diagnosed with both SOD and ES between 2012 and 2023. Clinical and neuroimaging data were analyzed, including EEG findings and long-term developmental outcomes.

Results Among 109 patients with SOD, 9 (8%) were diagnosed with ES. The mean age of ES onset was 5.86 months (range: 1 week to 23 months), with a female predominance (66.7%). Neuroimaging revealed ONH in all cases (n=9), absent septum pellucidum in 6 (66.7%), schizencephaly in 6 (66.7%), and corpus callosum abnormalities in 2 (22.2%) patients. Panhypopituitarism was present in 4 (44.4%) patients. Additionally, 3 (33.3%) patients had comorbid diabetes insipidus. Electroencephalographic analysis showed a hypsarrhythmia pattern in all cases. Genetic analysis identified a variant of uncertain significance in the COL4A1 gene in one patient and pyruvate dehydrogenase deficiency in another. All patients experienced developmental delays, and 5 (55.6%) later developed Lennox-Gastaut syndrome (LGS).

Conclusions ES have a relatively high prevalence, occurring in 8% of patients with SOD, and are linked with significant neurodevelopmental delays and a high risk of progression to LGS. Clinicians should maintain a high index of suspicion for ES in SOD patients, as early identification and management may impact long-term neurodevelopmental outcomes.

Authors/Disclosures
Cemal Karakas, MD (Norton Children's Hospital, University of Louisville) PRESENTER	Dr. Karakas has nothing to disclose.
Lisa Shields, MD	Dr. Shields has nothing to disclose.
Seema Shahi IV, MD	Dr. Shahi has nothing to disclose.
Grae McCarty	An immediate family member of Mrs. McCarty has stock in Johnson & Johnson.
Megana R. Iyer	Ms. Iyer has nothing to disclose.
Emily Singer, MD	Dr. Singer has nothing to disclose.

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