Division of Neurology, Department of Pediatrics, Montreal Children's Hospital, McGill University,
Department of Neurology and Neurosurgery, McGill University,
Research Institute of the McGill University Health Centre
Division of Neurosurgery, Department of Pediatric Surgery, Montreal Children's Hospital, McGill University Health Centre, Montreal, Canada
Correspondence: Kenneth Myers
Montreal Children's Hospital,
1001 Décarie Blvd,
Montreal, PQ, H4A 3J1, Canada
- Key words: cobalamin C deficiency, Cblc, cobalamin, B12, Hemiconvulsion-Hemiplegia-Epilepsy, status epilepticus, febrile, HHE
- DOI : 10.1684/epd.2018.1017
- Page(s) : 545-50
- Published in: 2018
Hemiconvulsion-Hemiplegia-Epilepsy initially involves an infantile presentation of febrile focal motor status epilepticus, with subsequent hemiplegia of the initially affected side. Months to years later, affected children go on to develop a chronic epilepsy with recurrent focal seizures which are often refractory to treatment. This uncommon paediatric epilepsy syndrome is poorly understood, with only a very small minority of cases associated with an underlying genetic or metabolic abnormality.
We present a four-year-old girl with genetic cobalamin C deficiency who had a dramatic presentation with Hemiconvulsion-Hemiplegia-Epilepsy. She had febrile focal status epilepticus, with right hemiconvulsive seizures for nearly 10 hours, ultimately requiring a midazolam infusion. Over subsequent days, she developed progressively worsening cerebral oedema, leading to herniation and requiring a craniectomy to relieve pressure.
This girl's presentation is the first association of cobalamin deficiency with hemiconvulsion-hemiplegia-epilepsy; and illustrates the importance of considering this entity when patients with this metabolic disorder present with acute deterioration. More importantly, the case also raises the possibility that derangements of cobalamin metabolism could be a contributing factor in cases of hemiconvulsion-hemiplegia-epilepsy, as well as febrile seizures in general.