LAUSR

Crouzon syndrome (CS) is a rare and complex autosomal dominant craniosynostosis with a highly variable phenotypic appearance and variable penetrance [1]. It was first described by French neurologist Octave Crouzon in 1912 [1]. 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 [1]. Clinically, it causes premature closure of one or more cranial sutures [1]. Other associated typical clinical features include hypertelorism, maxillary hypoplasia, exophthalmos and relative mandibular prognathism [1]. About 12% of patients with CS have associated epilepsy [2]. 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 [3]. The incidence of CS is approximately one in every 25,000 live births accounting 5% of all craniosynostosis [3]. 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. 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 [4]. We present a case of a 53-year-old male patient with mild CS diagnosed after birth. His mother, sister and daughter also have CS. Family history of epilepsy is negative. Patient presented with epilepsy at the age of 18. 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. Despite continuous antiepileptic drugs (AED) treatment, seizures in time became intractable, with worsening in the period from 2003 to 2011. They presented as 1-min nocturnal hypermotoric seizures with bimanual and bipedal automatisms, oncall agitation and postictal sleep. So far, several AEDs were tried in various combinations: methylphenobarbital (MPB), phenytoin (PHT), lamotrigine (LTG), clonazepam (CNZ), valproate (VPA) and clobazam (CLB). 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. Neurological examination was normal with clinical phenotype of CS: oxycephaly, exophthalmus, ocular hypertelorism and mandibular prognathism. We point the most important findings of our evaluation. On videoEEG 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 [4]. EEG showed pre-ictally diffuse dysrhythmia with focal spiked activity left frontotemporal and slow-wave activity contralateral. Ictally, EEG showed slow and spiked focal activity bilaterally frontotemporal with postictal slow waves left frontotemporal and spiked activity right frontotemporal. Seizures arised from sleep without any possible information about aura or lateralizing signs. Brain magnetic resonance imaging (MRI) 3T showed multiple small oval T2 hyperintensities in deep and subcortical white matter of left frontal region, left insula and subcortical white matter of the right frontal region, most likely chronic vascular lesions. Mild brain atrophy was present with no signs of brain malformations (Fig. 1). MRI angiography was performed and revealed fetal variant of right posterior cerebral artery. Performed MAP07 postprocessing analysis of the brain MRI revealed additional perinatal ischemic lesion in the left calcarine region. Computed neurocognitive * Marija Vuksic [email protected]