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DOI: 10.1055/s-0036-1583620
Epilepsy and Its Treatment in Nicolaides-Baraitser and Coffin-Siris Syndromes
Background: Nicolaides-Baraitser syndrome (NCBRS) and Coffin-Siris syndrome (CSS) are rare disorders with mental retardation and congenital malformations (especially of face and limbs) which show many similarities. Both are caused by gene mutations in the “mammalian SWItch/Sucrose Non-Fermentable“(mSWI/SNF) complex. Epileptic seizures often occur too. Their characteristics and therapy have rarely been surveyed yet.
Methods: Retrospective analysis of patients with NCBRS and CSS within the “Personalized Therapy In Rare Pediatric Epilepsies – Study Group” (PTIRPE-SG) and an international support group regarding phenotype, MRI and therapy of the epilepsy.
Results: N = 13 (♂ = 9, ♀ = 4; NCBRS = 11, CSS = 2), age: 2–24 years (mean: 12 years). Genetically proven: NCBRS 13/13, CSS 1/2. Epileptic seizures occurred in all patients (generalized in 12 and focal in one patient). Onset of epilepsy was on average 17 months (range: 9–41 months). MRI detected abnormalities in three patients: one NCBRS patient (nonspecific) and both CSS patients (1x severe defect of cortico-medullary differentiation, 1x hydrocephalus). Therapy of the epilepsy (applied/effective/worsening): PB (8/7/1), TPM (5/4/0), VPA (9/6/1), CLB (4/3/0), OXC (4/3/0), PHT (4/3/0), LEV (8/3/1), CBZ (3/1/0), STM (4/1/1), LTG (4/1/1), LCM (2/1/1), ESM (1/1/0), PRM (1/1/0), FBM (1/1/0), NZP (1/1/0), AZA (1/1/0), RUF (1/0/1), VBG (2/0/2), VNS (2/2/0), ketogenic diet (3/1/0).
Conclusion: First results show that epileptic seizures at NCBRS and CSS often appear with the following characteristics: (1) onset in early infancy; (2) predominant generalized seizures; (3) cMRI often without pathological findings (despite multiple somatic malformations); (4) comparatively effective treatment (in our small sample especially with PB, TPM).