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P06.17 NMDA receptor antibody encephalitis
Poster sessions at this age. Pediatric neurologists should be aware of this treatable autoimmune condition. P06.16 Clinical manifestations of the autoimmune process of central nervous system 1 ˇ E. Maruˇsic´ 1 *, B. Reˇsic´ 1 , R. Kuzmanic, M. Tomasovic´ 1 , ´ Samija A. Ursic´ 1 . 1 Department for Neurology and Endocrinology, Pediatric’Clinics, University Hospital Split, Croatia
Background: Pediatric infection triggered Autoimmune Neuropsychiatric Disorders are described in the literature since 1998. Autoimmune limbic encephalitis is recognized as a precipitating factor of onset temporal lobe seizures. Aim: two case reports of children with autoimmune neuropsychiatric disorders. First case: K.L., 13 years old girl was hospitalized for the third time because she had fever, ataxia, psychomotor seizures, bizarre gait and abnormal choreiform movements, catatonia, dysarthric speech and communication only in German language with often changes in mood and hallucinations. Previous hospitalization was two weeks earlier because she had a painful right mastoid. First hospitalization was two years earlier because of right mastoids infection and right retrobulbar neuritis. Now the EEG showed the focus of the slow waves on the right temporal, and later on both sides in temporoparietal region; oligoclonal bands in CSF were positive; MSCT of pyramids showed chronic inflammatory changes right and psychological testing showed deficits in cognitive functions. She was treated with antibiotics, steroids, benzodiazepines and carbamazepine. The patient underwent exploratory antrotomy of the right ear. After that she had started to recover. Second case: In 16-year-old girl non-paraneoplastic limbic encefalitis was diagnosed. Immune thrombocytopenia manifested in chronic form had been diagnosed 11 years earlier. She had complex partial seizures and developed behavioral disturbances: anxiety, feeling of unreality, auditory hallucinations and insomnia. EEG showed frontal fast beta activity. MRI scans demonstrated a temporal swelling. Cerebrospinal fluid showed pleocytosis and positive oligoclonal bands. The serologycal tests for neurotropic viruse were negative. Immunomodulation therapy was followed by an improvement of clinical status. P06.17 NMDA receptor antibody encephalitis S. Amin1 *, S. Hosdurga1 , A. Lux1 , P. Sharples1 , J. Patel1 , F. O’Callaghan1 . 1 Bristol Children’s Hospital, Paediatric Neurology Department, United Kingdom We report two cases of NMDA receptor antibody encephalitis in 2 teenage girls with similar presentations. One of the patients was initially diagnosed to have depression. She was seen by a child psychologist and a psychiatrist. A few months later she developed more violent mood swings, her school had concerns about bullying and she was also involved with the police. She was admitted to a psychiatric unit where her behaviour continued to deteriorate and she displayed decreased understanding at times. She often appeared distressed, adopting strange posturing and abnormal movements. At this stage she was referred back to the medics. On a general paediatric ward she was treated for encephalitis with IV antibiotics and acyclovir, and referred for a tertiary neurology opinion. Extensive investigations revealed diffuse cerebral dysfunction on EEG and CSF was positive for anti NMDA antibodies and oligoclonal bands. She was started on steroids and plasmapheresis. After 5 cycles she was given Immunoglobulin. Her behaviour slightly improved. She is now more responsive and is orientated to people, place and time.
S59 The pathogenesis of this disorder remains unknown but considered to be antibody-mediated encephalitis. In addition there is no consensus about management of this condition or imaging follow up for teratomas. We have learned from this case that thorough history taking is crucial and organic causes should always be carefully excluded before admitting a child to a psychiatric unit. We found management of this case challenging mainly because of the lack of evidence based management and follow up plan.
P07. Advances in neuroimaging P07.1 Identification of a novel magnetic resonance feature characterized by T2-hyperintensity of the cerebellar atrophic cortex in CDG-Ia patients M. Mirabelli-Badenier1 *, M.S. Severino2 , M. di Rocco3 , M.G. Alpigiani4 , R. Biancheri1 . 1 Child Neurology and Psychiatry Unit, G. Gaslini Institute, Genova, Italy, 2 Pediatric Neuroradiology Unit, G. Gaslini Institute, Genova, Italy, 3 Second Medicine Unit, Gaslini Institute, Genova, Italy, 4 Department of Pediatrics, G. Gaslini Institute, Genova, Italy Background: Congenital disorders of glycosylation type Ia (CDG-Ia) is the most common form of inherited disorders of abnormal glycosylation of N-linked oligosaccharides caused by deficiency in phosphomannomutase (PMM) enzyme secondary to PMM2 gene mutations. It is characterized by a broad spectrum of neurological and multivisceral signs. The neuroradiological hallmark is cerebellar hypoplasia/atrophy with a variable pontine involvement. Aim of the study: To describe the clinical and instrumental findings of six CDG-Ia patients, namely a novel not yet described neuroradiological feature. Materials and Methods: Clinical, neurophysiological, neuroimaging, biochemical and molecular investigations were performed. Results: Five patients showed a multivisceral form with variable severity, whereas one girl showed an isolated mild neurological form. Neurophysiological changes were identified in all patients, either early or in the disease course. All patients showed an IEF pattern type 1. PMM enzymatic activity was severely decreased in five patients and partially reduced in one girl. All patients resulted compound heterozygous for PMM2 gene mutations. Brain MRI showed a markedly shrunken cerebellum in all, with hypoplastic pons in two and progressive olivopontocerebellar atrophy in two other patients. T2-hyperintensity of the cerebellar cortex was detected in all cases. Conclusion: We confirm the remarkable clinical variability in CDG-Ia patients. On the contrary, brain MRI picture was consistently characterized by progressive pontocerebellar atrophy. Moreover, the occurrence of T2-hyperintensity of the cerebellar atrophic cortex, previously described in a limited number of disorders not including CDG-Ia, resulted to be a novel useful tool to correctly address the diagnosis. P07.2 Role of MRI in differentiation of ADEM from MS in children M. Sandu1 *, R.I. Teleanu1 , D.A. Epure1 , D. Vasile1 , D. Plesca1 . 1 Victor Gomoiu Children’s Hospital, Bucharest, Romania Backround: Acute disseminated encephalomyelitis (ADEM) is typically a monophasic demyelinating disorder. The first manifestation of multiple sclerosis (MS), particularly in children,can be considered ADEM,the reason being the lack of clear, objective criteria for differentiation. Quantitative analyses of MRI images from children with monophasic
Background: Pediatric infection triggered Autoimmune Neuropsychiatric Disorders are described in the literature since 1998. Autoimmune limbic encephalitis is recognized as a precipitating factor of onset temporal lobe seizures. Aim: two case reports of children with autoimmune neuropsychiatric disorders. First case: K.L., 13 years old girl was hospitalized for the third time because she had fever, ataxia, psychomotor seizures, bizarre gait and abnormal choreiform movements, catatonia, dysarthric speech and communication only in German language with often changes in mood and hallucinations. Previous hospitalization was two weeks earlier because she had a painful right mastoid. First hospitalization was two years earlier because of right mastoids infection and right retrobulbar neuritis. Now the EEG showed the focus of the slow waves on the right temporal, and later on both sides in temporoparietal region; oligoclonal bands in CSF were positive; MSCT of pyramids showed chronic inflammatory changes right and psychological testing showed deficits in cognitive functions. She was treated with antibiotics, steroids, benzodiazepines and carbamazepine. The patient underwent exploratory antrotomy of the right ear. After that she had started to recover. Second case: In 16-year-old girl non-paraneoplastic limbic encefalitis was diagnosed. Immune thrombocytopenia manifested in chronic form had been diagnosed 11 years earlier. She had complex partial seizures and developed behavioral disturbances: anxiety, feeling of unreality, auditory hallucinations and insomnia. EEG showed frontal fast beta activity. MRI scans demonstrated a temporal swelling. Cerebrospinal fluid showed pleocytosis and positive oligoclonal bands. The serologycal tests for neurotropic viruse were negative. Immunomodulation therapy was followed by an improvement of clinical status. P06.17 NMDA receptor antibody encephalitis S. Amin1 *, S. Hosdurga1 , A. Lux1 , P. Sharples1 , J. Patel1 , F. O’Callaghan1 . 1 Bristol Children’s Hospital, Paediatric Neurology Department, United Kingdom We report two cases of NMDA receptor antibody encephalitis in 2 teenage girls with similar presentations. One of the patients was initially diagnosed to have depression. She was seen by a child psychologist and a psychiatrist. A few months later she developed more violent mood swings, her school had concerns about bullying and she was also involved with the police. She was admitted to a psychiatric unit where her behaviour continued to deteriorate and she displayed decreased understanding at times. She often appeared distressed, adopting strange posturing and abnormal movements. At this stage she was referred back to the medics. On a general paediatric ward she was treated for encephalitis with IV antibiotics and acyclovir, and referred for a tertiary neurology opinion. Extensive investigations revealed diffuse cerebral dysfunction on EEG and CSF was positive for anti NMDA antibodies and oligoclonal bands. She was started on steroids and plasmapheresis. After 5 cycles she was given Immunoglobulin. Her behaviour slightly improved. She is now more responsive and is orientated to people, place and time.
S59 The pathogenesis of this disorder remains unknown but considered to be antibody-mediated encephalitis. In addition there is no consensus about management of this condition or imaging follow up for teratomas. We have learned from this case that thorough history taking is crucial and organic causes should always be carefully excluded before admitting a child to a psychiatric unit. We found management of this case challenging mainly because of the lack of evidence based management and follow up plan.
P07. Advances in neuroimaging P07.1 Identification of a novel magnetic resonance feature characterized by T2-hyperintensity of the cerebellar atrophic cortex in CDG-Ia patients M. Mirabelli-Badenier1 *, M.S. Severino2 , M. di Rocco3 , M.G. Alpigiani4 , R. Biancheri1 . 1 Child Neurology and Psychiatry Unit, G. Gaslini Institute, Genova, Italy, 2 Pediatric Neuroradiology Unit, G. Gaslini Institute, Genova, Italy, 3 Second Medicine Unit, Gaslini Institute, Genova, Italy, 4 Department of Pediatrics, G. Gaslini Institute, Genova, Italy Background: Congenital disorders of glycosylation type Ia (CDG-Ia) is the most common form of inherited disorders of abnormal glycosylation of N-linked oligosaccharides caused by deficiency in phosphomannomutase (PMM) enzyme secondary to PMM2 gene mutations. It is characterized by a broad spectrum of neurological and multivisceral signs. The neuroradiological hallmark is cerebellar hypoplasia/atrophy with a variable pontine involvement. Aim of the study: To describe the clinical and instrumental findings of six CDG-Ia patients, namely a novel not yet described neuroradiological feature. Materials and Methods: Clinical, neurophysiological, neuroimaging, biochemical and molecular investigations were performed. Results: Five patients showed a multivisceral form with variable severity, whereas one girl showed an isolated mild neurological form. Neurophysiological changes were identified in all patients, either early or in the disease course. All patients showed an IEF pattern type 1. PMM enzymatic activity was severely decreased in five patients and partially reduced in one girl. All patients resulted compound heterozygous for PMM2 gene mutations. Brain MRI showed a markedly shrunken cerebellum in all, with hypoplastic pons in two and progressive olivopontocerebellar atrophy in two other patients. T2-hyperintensity of the cerebellar cortex was detected in all cases. Conclusion: We confirm the remarkable clinical variability in CDG-Ia patients. On the contrary, brain MRI picture was consistently characterized by progressive pontocerebellar atrophy. Moreover, the occurrence of T2-hyperintensity of the cerebellar atrophic cortex, previously described in a limited number of disorders not including CDG-Ia, resulted to be a novel useful tool to correctly address the diagnosis. P07.2 Role of MRI in differentiation of ADEM from MS in children M. Sandu1 *, R.I. Teleanu1 , D.A. Epure1 , D. Vasile1 , D. Plesca1 . 1 Victor Gomoiu Children’s Hospital, Bucharest, Romania Backround: Acute disseminated encephalomyelitis (ADEM) is typically a monophasic demyelinating disorder. The first manifestation of multiple sclerosis (MS), particularly in children,can be considered ADEM,the reason being the lack of clear, objective criteria for differentiation. Quantitative analyses of MRI images from children with monophasic