Shields Lisa B E, Shahi Seema, McCarty Grae, Iyer Megana, Singer Emily, Karakas Cemal
Norton Neuroscience Institute, Norton Healthcare, Louisville, Kentucky.
Division of Pediatric Neurology, Department of Pediatrics, University of Louisville School of Medicine, Louisville, Kentucky.
Pediatr Neurol. 2025 Sep;170:98-105. doi: 10.1016/j.pediatrneurol.2025.06.019. Epub 2025 Jun 26.
To assess the prevalence, clinical characteristics, and outcomes of epileptic spasms (ES) in patients with septo-optic-pituitary dysplasia (SOD).
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.
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).
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.
评估视隔-垂体发育不良（SOD）患者中癫痫性痉挛（ES）的患病率、临床特征及预后。
对2012年至2023年间诊断为SOD且年龄小于21岁的患者进行回顾性病历审查。分析临床和神经影像学数据，以及脑电图（EEG）结果和长期预后。
在105例SOD患者中，7例（6.7%）被诊断为ES。ES发病的平均年龄为8.2个月（范围：0.1 - 13.3个月），女性占优势（71.4%）。神经影像学显示所有患者均有视神经发育不全、透明隔缺如和脑裂畸形。1例（14.3%）患者有胼胝体发育不良和垂体小。2例（28.6%）患者合并尿崩症。所有患者均有严重发育迟缓，不会说话也不会行走。EEG分析显示4例（57.1%）患者有高峰失律模式。最后一次随访的平均年龄为9.9岁（范围：4.6 - 15.6岁）。所有患者均发展为难治性癫痫；只有1例癫痫发作完全缓解。5例（71.4%）患者发展为Lennox-Gastaut综合征（LGS）。
ES患病率相对较高，在6.7%的SOD患者中出现，与显著的神经发育迟缓及进展为LGS的高风险相关。临床医生应对SOD患者的ES保持高度怀疑，因为早期识别和管理可能影响长期神经发育结局。
