The predictive role of heat shock protein 27–60 levels in pediatric patients with ataxia telangiectasia

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P3-92 Hashimoto encephalitis as a rare cause of non tumoral opso-myoclonic ataxia

P3-94 Status dystonicus: An unusual presentation related to KCNQ2 mutations in homozygotic twins

Senem Ayc¸a, Kazım Zararcı, Muzaffer Polat. Celal Bayar Medical Faculty Division of Pediatric Neurology, Turkey

M. Alyfantia, M. Tsaousogloub, M. Nikolaidouc, D. Maritsid. aAthens General Children's Hospital “Pan. & Aglaia Kyriakou”, 2nd Pediatric Clinic, University of Athens, Athens, Greece. bMitera Children's Hospital, Pediatric Clinic, Athens, Greece. cGeneral Hospital of Athens Alexandra, Neonatal Unit, Athens, Greece. dAthens General Children's Hospital “Pan. & Aglaia Kyriakou”, 2nd Pediatric Clinic, Greece

Background: Hashimoto encephalopathy (HE) is a rare autoimmune encephalitis. The diagnosis is arrived at by excluding other toxic, metabolic and infectious causes of encephalopathies, supportive clinical profile, elevated thyroid antibodies and optimum steroid response. Cerebellar dysfunction, behavioral abnormalities and oculomotor disturbances can be seen. Case: 16 year old male with gait disturbance admitted to our hospital. Personal history revealed Hashimoto thyroiditis. Truncal ataxia, opsomyoclonus, nystagmus was found upon neurological examination. Also obsessive compulsive symptoms developed during hospitalization. The thyroid profile revealed normal and high serum titers of anti-TPA was seen. Toxic, metabolic and infectious causes excluded. Autoimmune encephalitis autoantibodies and anti GAD were negative. MRI and eeg was normal. Neuroblastoma was excluded via imaging and low urinary VMA excretion levels. Steroid therapy was initiated with the diagnosis od H.E. Patients symptoms resolved after theraphy. Conclusion: In this report, we would like to present a patient with nontumoral opso- myoclonus diagnosed with Hashimoto encephalitis. Suspicion is often required in this cases for early diagnosis of H.E.

http://dx.doi.org/10.1016/j.ejpn.2017.04.1118 P3-93 The predictive role of heat shock protein 27e60 levels in pediatric patients with ataxia telangiectasia A.A. Ozcelik, P. Perk, A. Bay, B. Erbagci, A. Gok, B. Demircioglu Kılıc. Division of Pediatric Neurology, Gaziantep University Faculty of Medicine, Gaziantep, Turkey Objective: We aimed to measure the levels of the heat shock proteins (HSP) 27 and 60 as mediators for hypoxia and tissue injury in pediatric patients with Ataxia telangiectasia (A-T). In addition, we wanted to determine the prognostic role of heat shock proteins 27 and 60 in the disease. Methods: This study included treated and followed A-T patients (n ¼ 15) between the ages of 4e16 years and age-matched healthy controls (n ¼ 20). HSP 27 and HSP 60 levels were analyzed from serum samples of A-T patients using ELISA and compared to health controls. Results: Both serum HSP 27 and 60 levels were higher in patients with A-T compared to the agematched healthy controls (p ¼ 0.010 and p ¼ 0.000, respectively). Conclusion: We believe that patients with A-T have increased levels of HSP 27 and 60 for prevention from tissue injury; therefore, targeting heat shock proteins via therapies may prevent disease progression and secondary malignancy development in A-T patients.

http://dx.doi.org/10.1016/j.ejpn.2017.04.1119

Objective: To highlight the expanded phenotype of patients harboring a KCNQ2 allele deletion(c.913_915delTTC),who additionally to drug resistant epilepsy and epileptic encephalopathy developed status dystonicus. Methods: Case presentation of monozygotic twins carrying the same KCNQ2 mutation. Results: Twin one presented at the age of 9 months, and while his epilepsy was reasonably controlled, with neck and trunk hyperextension, blepharospasm,tonic activity of the upper limbs and hyperthermia. Two weeks later, twin two developed similar symptoms. Both patients developed rhabdomyolysis which was treated with hypehydration and urine alkalization.They were both administrated intravenous diazepam and responded well. They now remain free of dystonic symptoms on oral diazepam additionally to their antiepileptic medication. Conclusion: Although movement disorders have been sparsely reported previously on KCNQ2 patients this is, to the best of our knowledge, the first case of monozygotic twins with this presentation.Clinicians should be aware that KCNQ2 patients could develop significant dystonia that needs prompt treatment.

http://dx.doi.org/10.1016/j.ejpn.2017.04.1120 P3-95 A diagnostic approach to pediatric early onset chorea Lubov Blumkina,b,c, Ayelet Zerema,b,c, Hilla Ben-Pazia,b,c, Esther Leshinsky-Silvera,b,c, Dorit Leva,b,c, Tally Lerman-Sagiea,b,c. a Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel. b Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel. c Sackler School of Medicine, Tel- Aviv University, Israel Objective: To establish a clinical and genetic approach for testing of hereditary pediatric early onset chorea in patients with normal neuroimaging. Methods: We studied four patients with an early onset hyperkinetic movement disorder, predominantly generalized chorea, due to different neuro-genetic syndromes. Developmental or acquired brain abnormalities were not observed. We studied the movement disorder phenotypes, the associated neurological and non-neurological features, and the disease course in our patients, together with previously attained data, in order to determine the best approach to genetic testing: single gene testing, a multi-gene panel, whole-exome or whole- genome sequencing (WES/WGS). Results: Four patients aged 2 to 13 years presented to our metabolic neuro- genetic clinic for a hyperkinetic movement disorder. All children but one had an unremarkable perinatal and family history. One patient has a close relative with