Pediatric neurology · 2025
Epileptic Spasms in Septo-Optic-Pituitary Dysplasia: A Retrospective Cohort Study.
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Shields Lisa B E, Shahi Seema, McCarty Grae, Iyer Megana, Singer Emily, Karakas Cemal
Аннотация
BACKGROUND: To assess the prevalence, clinical characteristics, and outcomes of epileptic spasms (ES) in patients with septo-optic-pituitary dysplasia (SOD).
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, as well as electroencephalographic (EEG) findings and long-term outcomes.
RESULTS: Among 105 patients with SOD, seven (6.7%) were diagnosed with ES. The mean age of ES onset was 8.2 months (range: 0.1-13.3 months), with a female predominance (71.4%). Neuroimaging revealed optic nerve hypoplasia, an absent septum pellucidum, and schizencephaly in all patients. A dysplastic corpus callosum and a small pituitary gland size were noted in one (14.3%) patient. Two (28.6%) patients had comorbid diabetes insipidus. All patients experienced severe developmental delays and were nonverbal and nonambulatory. EEG analysis showed a hypsarrhythmia pattern in four (57.1%) cases. The mean age at last follow-up was 9.9 years (range: 4.6-15.6 years). All patients developed drug-resistant epilepsy; only one had complete resolution of the seizures. Five (71.4%) patients developed Lennox-Gastaut syndrome (LGS).
CONCLUSIONS: ES have a relatively high prevalence, occurring in 6.7% 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 patients with SOD, as early identification and management may impact long-term neurodevelopmental outcomes.
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, as well as electroencephalographic (EEG) findings and long-term outcomes.
RESULTS: Among 105 patients with SOD, seven (6.7%) were diagnosed with ES. The mean age of ES onset was 8.2 months (range: 0.1-13.3 months), with a female predominance (71.4%). Neuroimaging revealed optic nerve hypoplasia, an absent septum pellucidum, and schizencephaly in all patients. A dysplastic corpus callosum and a small pituitary gland size were noted in one (14.3%) patient. Two (28.6%) patients had comorbid diabetes insipidus. All patients experienced severe developmental delays and were nonverbal and nonambulatory. EEG analysis showed a hypsarrhythmia pattern in four (57.1%) cases. The mean age at last follow-up was 9.9 years (range: 4.6-15.6 years). All patients developed drug-resistant epilepsy; only one had complete resolution of the seizures. Five (71.4%) patients developed Lennox-Gastaut syndrome (LGS).
CONCLUSIONS: ES have a relatively high prevalence, occurring in 6.7% 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 patients with SOD, as early identification and management may impact long-term neurodevelopmental outcomes.