On video- EEG monitoring, we recorded several nocturnal focal motor seizures of frontal lobe origin with impaired consciousness that, according to the new diagnostic criteria, correspond to confirmed SHE. We point the most important findings of our evaluation. Neurological examination was normal with clinical phenotype of CS: oxycephaly, exophthalmus, ocular hypertelorism and mandibular prognathism. He was hospitalized at the Department of Neurology of the University Hospital Center Zagreb, Croatia in July 2012 and again in May 2014, when extensive diagnostic evaluation was performed. So far, several AEDs were tried in various combinations: methylphenobarbital (MPB), phenytoin (PHT), lamotrigine (LTG), clonazepam (CNZ), valproate (VPA) and clobazam (CLB). They presented as 1-min nocturnal hypermotoric seizures with bimanual and bipedal automatisms, oncall agitation and postictal sleep. Despite continuous antiepileptic drugs (AED) treatment, seizures in time became intractable, with worsening in the period from 2003 to 2011. The clinical phenotype was nocturnal focal motor seizures of frontal origin with impaired consciousness and with progression to bilateral tonic–clonic seizures once to twice a year. Patient presented with epilepsy at the age of 18. His mother, sister and daughter also have CS. We present a case of a 53-year-old male patient with mild CS diagnosed after birth. Diagnostic criteria were recently revised and developed with three levels of certainty: witnessed (possible) SHE, video- documented (clinical) SHE, and video- EEG- documented (confirmed) SHE. Sleep- related hypermotor epilepsy (SHE), previously known as nocturnal frontal lobe epilepsy (NFLE), is characterized by hypermotor seizures occurring predominantly in clusters during non- REM sleep. The incidence of CS is approximately one in every 25, 000 live births accounting 5% of all craniosynostosis. The asymmetric vault growth can also cause some structural brain abnormalities such as hydrocephalus, agenesis of the corpus callosum, agenesis of the septum pellucidum, Chiari 1 malformation and hind- brain herniation. About 12% of patients with CS have associated epilepsy. Other associated typical clinical features include hypertelorism, maxillary hypoplasia, exophthalmos and relative mandibular prognathism. Clinically, it causes premature closure of one or more cranial sutures. The genetic basis of CS is in the mutations of FGFR2 gene responsible for the transformation of fibrous joint lines between sutures to osseous bone matrix, located on the chromosome 10 q23–q26. It was first described by French neurologist Octave Crouzon in 1912. Crouzon syndrome (CS) is a rare and complex autosomal dominant craniosynostosis with a highly variable phenotypic appearance and variable penetrance.

Sleep related hypermotor epilepsy