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P052 Hashimoto encephalopathy in Down's syndrome with dimethylargininase-1 autoantibodies
Posters P051 Auditory event related potentials in preterm infants recorded in quiet and active sleep A. Suppiej1 *, A. Cappellari1 , G. Mento2 , A. Traverso1 , E. Cainelli1 , V. Zanardo3 , M. Ermani4 , P.S. Bisiacchi2 . 1 Child Neurology and Clinical Neurophysiology, Department of Paediatrics, University of Padova, Italy; 2 Department of General Psychology, University of Padova, Italy; 3 Neonatal Intensive Care Unit, Department of Paediatrics, University of Padova, Italy; 4 Biostatistical Unit, Department of Neuroscience, University of Padua, Padua Italy Objective: To investigate the influence of active and quiet sleep on auditory event related potentials recorded in preterm infants. Methods: Eighteen preterm newborns underwent auditory event related potentials during quiet and active sleep, before discharge from neonatal intensive care unit. An auditory oddball paradigm was used with frequently occurring ‘standard’ tones at 1000 Hz and rarely occurring ‘deviant’ tones at 2000 Hz. The waveforms recorded at Fz, Cz, Pz, T3 and T4 locations were divided into twenty 50 ms. intervals and absolute mean amplitude within each interval was calculated for statistical analysis. Results: In active sleep, at Fz location, the responses to standard and deviant stimuli were significantly different (p = 0.005), the difference involved the time period from 200 to 300 ms. after stimulus (time bins 7th p = 0.006 and 8th p < 0.001); in quiet sleep no significant difference was found (p = 0.32). In addition, in the difference waveform (deviant minus standard) a significant effect was found for electrode placement (p = 0.003), for Fz electrode location by sleep condition (p = 0.038) and for sleep condition by time bin (p = 0.028). Conclusions: Responses to standard tones were recorded in active as well as quiet sleep. With the paradigm adopted in the present study mismatch responses to deviant tones seem reliably recorded only in active sleep. Significance: In view of a possible clinical role of auditory event related potentials in preterm infants, our data suggest to perform recordings in active sleep. P052 Hashimoto encephalopathy in Down’s syndrome with dimethylargininase-1 autoantibodies H. Verhelst, P. Verloo, B. De Paepe, B. Gini, B. Bonetti, R. Van Coster. 1 Department of Pediatric Neurology, Ghent University Hospital, Ghent, Belgium, 2 Department of Neurology, University of Verona, Verona, Italy Background: Hashimoto encephalopathy (HE) is diagnosed in patients with otherwise unexplained neurological and/or psychiatric symptoms in whom antithyroid antibodies are positive regardless of their thyroid function. Mean age of onset is between 45 and 55 years of age. Only about 27 pediatric patients are reported. Although the pathogenic role of the antithyroid antibodies in HE is still under debate an autoimmune pathogenesis is highly suspected and research is ongoing towards a possible neuronal target of autoimmunity. Recently autoantibodies against dimethylargininase-1 (DDAH1) and aldehyde reductase1 (AKRIA1), two neuronal enzymes, were detected in cerebrospinal fluid (CSF) of patients with HE. Children with Down’s syndrome (DS) are at high risk of thyroid dysfunction, including autoimmune thyroiditis. To our knowledge, no pediatric DS patients are reported with HE. Clinical case: Propositus was a 16 year old girl with classical trisomy 21. Nevertheless she made some progress in school and was independent for activities of daily living. At the age of fifteen years, she presented with cognitive decline and tiredness. An autoimmune hypothyroidia was
S37 diagnosed with the presence of antithyroid peroxidase and anti-thyroglobulin antibodies. Despite adequate treatment with thyroid hormone her cognitive decline progressed. She progressively withdrawn more into herself and became again dependent in activities of daily living. Subsequently, she developed tics and psychotic episodes. Clinical neurological examination revealed no particularities. HE was suspected. Technical investigations including cerebral MRI, EEG and metabolic screening exclude other causes of cognitive regression. The presence of autoreactivity against DDHA1 strengthened the hypothesis of HE. Treatment with steroids was started but was only partially successful. Conclusions: Antithyroid antibodies should be measured in all children with unexplained neurological symptoms and if present HE should be suspected. Autoreactivity against DDAH1 and/or AKRIA1 strengthens the diagnosis of HE. It is important to diagnose HE since the disease is treatable with immunomodulating therapy. P053 Posterior Reversible Encephalopathy Syndrome (PRES) secondary to immunsupressive treatment S. Yilmaz1 *, M. Baran2 , G. Serdaroglu1 , C. Arikan2 , S. Aydogdu2 , H. Tekgul1 , S. Gokben1 . 1 Child Neurology, Ege University, Izmir, Turkey; 2 Pediatric Hepatology and Gastroenterology, Ege University, Izmir, Turkey PRES is an increasingly recognised neurologic disorder which is associated with diverse systemic diseases and drugs. Immunsupressive agents are one of the most common causes of PRES. A 9-year-old boy was referred to our hospital for acute hepatic failure caused by chronic hepatitis-B infection. Full hepatic transplantation was performed from a dedicated donor and at the 3rd day of the operation tacrolimus therapy was started for immunsupression. At the seventh day of the treatment, the patient described some visual hallucinations and behavioral alterations. His mental status deteriorated rapidly and secondarily generalised left focal seizures developed at the 9th day of the therapy. The cranial magnetic resonance imaging revealed T2 hyperintense white matter changes predominantly at the posterior periventricular regions of the brain. The electroencephalography (EEG) revealed posterior slowing of both hemispheres. The patient was diagnosed as PRES due to the characteristic clinical and radiological findings. His mental status recovered shortly after the discontinuation of tacrolimus therapy. The cranial imaging and EEG performed at the 1st month of the event revealed a remarkable improvement. The mortality and morbidity of PRES can be prevented by early recognition of the disease. Therefore PRES should be in consider if otherwise unexplained mental status changes, visual hallucinations and seizures occur in patients receiving immunsupressive agents. P054 Signification of the follow-up of children with congenital cardiac rhabdomyomas for early diagnosis of the tuberous sclerosis B. Petrak1 *, M. Cerny2 , V. Chaloupecky3 , M. Kyncl4 , M. Kaluzova1 , A. Jahodova1 . 1 Child Neurology, University Hospital Motol, 2nd Medical School, Charles University, Prague, Czech Republic; 2 Neonatology, University Hospital Motol, 2nd Medical School, Charles University, Prague, Czech Republic; 3 Cardiocenter, University Hospital Motol, Prague, Czech Republic; 4 Radiology, University Hospital Motol, 2nd Medical School, Prague, Czech Republic Objective: Tuberous sclerosis complex (TSC) is an autosomal dominant multisystemic disorder characterized by the presence of hamartomas and benign tumors. The diagnosis of TSC is established by major and minor clinical criteria. Cardiac
S37 diagnosed with the presence of antithyroid peroxidase and anti-thyroglobulin antibodies. Despite adequate treatment with thyroid hormone her cognitive decline progressed. She progressively withdrawn more into herself and became again dependent in activities of daily living. Subsequently, she developed tics and psychotic episodes. Clinical neurological examination revealed no particularities. HE was suspected. Technical investigations including cerebral MRI, EEG and metabolic screening exclude other causes of cognitive regression. The presence of autoreactivity against DDHA1 strengthened the hypothesis of HE. Treatment with steroids was started but was only partially successful. Conclusions: Antithyroid antibodies should be measured in all children with unexplained neurological symptoms and if present HE should be suspected. Autoreactivity against DDAH1 and/or AKRIA1 strengthens the diagnosis of HE. It is important to diagnose HE since the disease is treatable with immunomodulating therapy. P053 Posterior Reversible Encephalopathy Syndrome (PRES) secondary to immunsupressive treatment S. Yilmaz1 *, M. Baran2 , G. Serdaroglu1 , C. Arikan2 , S. Aydogdu2 , H. Tekgul1 , S. Gokben1 . 1 Child Neurology, Ege University, Izmir, Turkey; 2 Pediatric Hepatology and Gastroenterology, Ege University, Izmir, Turkey PRES is an increasingly recognised neurologic disorder which is associated with diverse systemic diseases and drugs. Immunsupressive agents are one of the most common causes of PRES. A 9-year-old boy was referred to our hospital for acute hepatic failure caused by chronic hepatitis-B infection. Full hepatic transplantation was performed from a dedicated donor and at the 3rd day of the operation tacrolimus therapy was started for immunsupression. At the seventh day of the treatment, the patient described some visual hallucinations and behavioral alterations. His mental status deteriorated rapidly and secondarily generalised left focal seizures developed at the 9th day of the therapy. The cranial magnetic resonance imaging revealed T2 hyperintense white matter changes predominantly at the posterior periventricular regions of the brain. The electroencephalography (EEG) revealed posterior slowing of both hemispheres. The patient was diagnosed as PRES due to the characteristic clinical and radiological findings. His mental status recovered shortly after the discontinuation of tacrolimus therapy. The cranial imaging and EEG performed at the 1st month of the event revealed a remarkable improvement. The mortality and morbidity of PRES can be prevented by early recognition of the disease. Therefore PRES should be in consider if otherwise unexplained mental status changes, visual hallucinations and seizures occur in patients receiving immunsupressive agents. P054 Signification of the follow-up of children with congenital cardiac rhabdomyomas for early diagnosis of the tuberous sclerosis B. Petrak1 *, M. Cerny2 , V. Chaloupecky3 , M. Kyncl4 , M. Kaluzova1 , A. Jahodova1 . 1 Child Neurology, University Hospital Motol, 2nd Medical School, Charles University, Prague, Czech Republic; 2 Neonatology, University Hospital Motol, 2nd Medical School, Charles University, Prague, Czech Republic; 3 Cardiocenter, University Hospital Motol, Prague, Czech Republic; 4 Radiology, University Hospital Motol, 2nd Medical School, Prague, Czech Republic Objective: Tuberous sclerosis complex (TSC) is an autosomal dominant multisystemic disorder characterized by the presence of hamartomas and benign tumors. The diagnosis of TSC is established by major and minor clinical criteria. Cardiac