Congenital hemiparesis, unilateral polymicrogyria and epilepsy with or without status epilepticus during sleep: a study of 66 patients with long-term follow-up

• Published in: Epileptic disorders Vol. 15; no. 4; pp. 417 - 427
• Main Authors: Caraballo, Roberto Horacio, Cersósimo, Ricardo Oscar, Fortini, Pablo Sebastián, Ornella, Lorena, Buompadre, María Celeste, Vilte, Carolina, Princich, Juan Pablo, Fejerman, Natalio
• Format: Journal Article
• Language: English
• Published: Paris Springer Paris 01.12.2013; Libbey Eurotext; Wiley Subscription Services, Inc
• Subjects: Adolescent; Adult; Biological and medical sciences; Child; Child, Preschool; Clinical trial. Drug monitoring; Convulsions & seizures; Electroencephalography - methods; Encephalopathy; Epilepsy; Female; Firing pattern; Follow-Up Studies; General pharmacology; Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy; Humans; Male; Malformations of Cortical Development - physiopathology; Medical sciences; Medicine; Medicine & Public Health; Myoclonus; Nervous system (semeiology, syndromes); Nervous system as a whole; Neurobiology; Neurology; Neuropsychology; Neuroradiology; Original Article; Paresis; Paresis - congenital; Paresis - physiopathology; Patients; Pharmacology. Drug treatments; Polymicrogyria; Retrospective Studies; Seizures; Sleep; Sleep - physiology; Status Epilepticus - diagnosis; Status Epilepticus - physiopathology; Steroid hormones; Sulthiame; Time Factors; Young Adult; epilepsy; sleep; unilateral polymicrogyria; continuous spikes and waves; negative myoclonus; congenital hemiparesis; Human; Hemiparesis; Nervous system diseases; Congenital; Myoclonus; Motor system disorder; Epilepsy; Polymicrogyria; Long term; Involuntary movement; Cerebral disorder; Sleep; Subintrant crisis; Central nervous system disease; Spike wave; Neurological disorder; Status epilepticus
• ISSN: 1950-6945; 1294-9361; 1950-6945
• DOI: 10.1684/epd.2013.0612

Aim We retrospectively analysed the electroclinical features, treatment, and outcome in patients with unilateral polymicrogyria (PMG), focussing on epileptic syndrome with or without encephalopathy, with status epilepticus during sleep (ESES) or continuous spikes and waves during slow sleep (CSWS) syndrome. Methods From June 1990 to December 2012, 39 males and 27 females, aged 5–26 years, were studied. We did not include patients with bilateral PMG or cases with unilateral PMG associated with other cerebral lesions. The mean follow-up period was 12 years (range: 3–22 years). Results Mean age at epilepsy onset was 6.5 years. Focal motor seizures occurred in all cases and 25 had secondary generalised seizures. Six patients also had complex focal seizures. Interictal EEG recordings showed focal spikes in all cases. For 43 of 53 patients with epilepsy, aged 2–9.5 years, the electroclinical features changed. An increase in frequency of focal motor seizures was reported in 20 patients, negative myoclonus occurred in 32 patients, atypical absences in 25 patients, and positive myoclonus in 19 patients. All patients had a continuous symmetric or asymmetric pattern of spike-wave activity during slow-wave sleep. Conclusion For patients presenting with congenital hemiparesis, negative or positive myoclonus, and absences and focal motor seizures with ESES/CSWS, unilateral PMG should be considered. Brain MRI is mandatory to confirm this cortical malformation. The most commonly used treatments were clobazam, ethosuximide, and sulthiame, alone or in combination. For refractory cases, high-dose steroids were administered and surgery was performed in two patients. Outcome was relatively benign.