Rapid genetic testing in the PICU: uncovering COL4A2-related GOULD syndrome in super-refractory status epilepticus

Gould Syndrome is a rare genetic disorder associated with COL4A1/COL4A2 variants compromising the blood-brain barrier and leading to neurological and muscular complications, including epilepsy. We report the first known case of Gould syndrome presenting with neonatal-onset panhypopituitarism and later developing super-refractory status epilepticus (SRSE). The patient, a girl diagnosed at 22 months old, required pentobarbital burst suppression, multiple anti-seizure medications (ASMs) and ketogenic diet therapy. SRSE resolved after 1 week of pentobarbital coma. She was discharged on Clobazam, Perampanel and Lacosamide, with persistent hypotonia and rare myoclonic seizures. Genetic testing revealed a novel, paternally inherited COL4A2 (c.826-1G>T) splice-site variant. While RSE is commonly linked to inflammatory encephalitis, this case emphasises the importance of early genome sequencing, particularly whole-exome sequencing (WES), in cases of acute RSE with no clear underlying aetiology. Early genetic testing is crucial for individualised treatment and genetic counselling, potentially improving patient outcomes.