Okur-Chung Neurodevelopmental Syndrome Presenting with Seizure-Like Spells: A Case Report
Rakshit Gupta, Praveen KumarAbstract
Background:
Okur-Chung neurodevelopmental syndrome (OCNDS) is a rare autosomal dominant condition caused by pathogenic variants in the
Clinical Description:
A 14-week-old girl with a 6-week history of feeding difficulty and cough was referred to our centre with a 1-day history of apneic spells and cyanosis after feeding. Birth history, antenatal and immediate postnatal periods were uneventful. Complete head control had not been achieved. At examination, the infant was in shock and cyanosed. There were no dysmorphic features, nor cleft palate.
Management and Outcome:
After intubation and other supportive therapy, she was started on levetiracetam. Cerebrospinal fluid analysis, brain imaging, electroencephalogram and echocardiography were noncontributory. Radionuclide milk scan showed gastro-esophageal reflux disease. Whole-exome sequencing identified a pathogenic heterozygous variant in
Conclusion:
OCNDS can present with reflux-related aspiration and apnoeic spells that mimic seizures. Early feeding-focused evaluation and timely genetic testing can prevent unnecessary antiseizure treatment and enable coordinated multidisciplinary care.