P25 – 2558: CDKL 5 associated epileptic encephalopathy. Clinical case

Abstract

CDKL5 mutations have been found in children diagnosed with Infantile Spasms, West Syndrome, Lennox-Gastaut, Rett Syndrome, cerebral palsy and autism. However, it is important to note that it is not know what causes CDKL5 mutations, or the full spectrum of CDKL5 disorders at this time. We observed the girl born from 3 pregnancy, 1 birth with weight 3040 and length 50cm. In age of 3 month was carried out adsorbed pertussis-diphtheria-tetanus vaccination and polio, in about 2 weeks after started paroxysms:staring and loss of muscular tonus, lasting a few seconds, also serial infantile spasms. At video-EEG hypsarhythmia and 3 seizures were registered. Neurological status: deformation of heard, can't hold head up, diffuse muscular hypotonia, no visual concentration, reflexes symmetrical, positive Babincki symptom. At that time she was observed with diagnosis: symptomatic generalized epilepsy, perinatal CNS damage, developmental delay. Antiepileptic treatment included: carbamazepine 30 mg/kg/day, valproic acid 50–300 mg/kg/day, topiramate 6–7 mg/kg/day, Phenobarbital 7 mg/kg/day, lamotrigine 2 mg/kg/day, tetracosactide (Synacthen depot) No. 10 in different combinations, but seizures persisted. In 2012 was observed in clinic at Germany: noted focal myoclonic and tonic seizures, with moving eyes upward and infantile spasms serial 5–20 per day, she received clonazepam, levetiracetam, vigabatrin, valproic acid, zonisamide, aethosuximidi in different combinations. In 2014 was made genetic tasting. Was diagnosed early infantile epileptic encephalopathy, type 2 (early infantile form of Rett synrdrome), OMIM 300672. DNA analyses found not known before mutation in CDKL5, X-linked dominant. Nowadays, the girl have redused cognitive development, didn't speak and respond on examination, doesn't contact, have stereotypical movements, no visual contact, have salivation, diffuse muscular hypotonia, reflexes are symmetrical, she doesn't walk, can sit. Antiepileptic treatment includes: valproic acid 600 mg/kg/day and ethosuximid 8 ml/day. Still present generalized tonic-clonic seizures with turning head to the right 1 min 1–2 times a day with breaks 2–5 days, selection of therapy still continues.