This case study follows a girl with CDKL5 deficiency disorder (CDD) from early-onset focal seizures at eight weeks of age through nine years of long-term management. It illustrates the diagnostic pathway to a confirmed de novo CDKL5 variant, the evolving seizure semiology, and a complex, repeatedly adjusted anti-seizure regimen set against severe developmental impairment. The case underlines why therapeutic success in CDD extends beyond seizure control to preserving function, comfort, and quality of life for both the patient and the family.
Video chapters
- 0:42 -Patient journey and clinical presentation — Follows the patient from her first focal seizures at eight weeks through the emergence of epileptic spasms, drug-resistant epilepsy, and severe early developmental delay.
- 3:03 - Diagnostic workup and seizure semiology — Covers the neurological examination, video EEG findings, normal MRI and metabolic screening, and the de novo CDKL5 frameshift variant that confirmed the diagnosis, illustrated with the patient's own seizure recordings.
- 4:58 - Treatment course from infancy — Traces the evolving anti-seizure regimen across multiple drug classes, from an initial barbiturate and sodium channel blockers through GABAergic, broad-spectrum, and benzodiazepine agents, and into recent use of a cannabinoid and enrolment in a trial of a serotonergic agent.
- 8:11 - Treatment landscape and long-term management — Reviews approved and emerging therapies for CDD (a neurosteroid, a serotonergic agent, and a cannabinoid), evidence for progressive brain volume loss, and a multisystem care model spanning epilepsy, mobility, nutrition, and family support.