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PP08.8 – 2833: Multiple sclerosis in Belgian children: A multicentric retrospective study
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EUROPEAN JOURNAL O F PAEDIATRIC NEUROLOGY
muscle strength was 2/5 on lower extremities and 4/5 in upper extremities. Case 2: A 17-year-old boy with known spondylarthritis presented with complaints of weakness of lower extremities over 10 days. On physical system examination muscle strength was 4/5 on lower extremities and 5/5 on upper extremities. Case 3: A 9-year-old boy was admitted with weakness and pain in the lower extremities over 10 days. His CK was 2988 (150–499 U/L). He was diagnosed as myositis and painkillers were prescribed. Then the weakness gradually worsened involving upper extremities. On physical system examination muscle strength was 4/5 on lower extremities and 2/5 on upper extremities. Results: The deep tendon reflexes were normal in upper and lower extremities on repeated examinations in all of 3 cases. The diagnosis of Guillain Barre Syndrome was made by electrophysiological studies. Conclusion: Although hypo- or areflexia is necessary for clinical diagnosis of GBS, preserved deep tendon reflexes do not exclude the diagnosis of Guillain-Barré syndrome. The electrophysiological studies play a very important role in differentiating it from other causes.
PP08.8 - 2833 Multiple sclerosis in Belgian children: A multicentric retrospective study H. Verhelst, L. De Waele, N. Deconinck, B. Ceulemans, B. Willekens, R. Van Coster. Department of Paediatric Neurology, Ghent University Hospital, Ghent, Belgium Objective: We aim to describe the clinical and laboratory features in Belgian paediatric MS patients. Methods: Twenty one pediatric multiple sclerosis (MS) records from four Belgian University Hospitals were retrospectively analyzed. Results: The study population consists of twenty one MS patients (nine male and twelve female). Median age at presentation was eleven years. In 23.8% of the patients, disease onset was preceded by an infection. One patient (4.8%) had a positive familial history of MS. Seroconversion for Epstein-Barr virus was seen in 93.3%. One third of the patients presented monosymptomatic, 57.1% with vision impairment most frequently due to optic neuritis. An acute disseminated encephalomyelitis-like presentation was seen in 19%. The median time lapse between disease onset and first relapse was eight months, and between disease onset and diagnosis nine months. At diagnosis, all patients had relapsing remitting MS. Median relapse rate was 0.93/year. Most relapses were severe but recovery was complete in most patients. Cerebral MRI at disease onset revealed a median of eight lesions (66.7% juxtacortical, 66.7% infratentorial and 44.4% periventricular). In 19% of the patients, MRI of the spinal cord was performed showing lesions in 75%. In cerebrospinal fluid, white blood cells were increased in 52.6%, IgG-index was increased in 44.4% and oligoclonal bands were detected in 68.4%. Disease modifying therapy was initiated in 71.4% of the patients after a median disease duration of 15.5 months, at a median age of 12.5 years. The median duration of follow-up was 53 months. At last follow-up visit, 19% had reached an EDSS score of three and 9.5% had evolved to secondary progressive MS (SPMS). Conclusion: The presented study cohort illustrates the clinical and laboratory features of paediatric MS highlighting a high incidence of positive Epstein-Barr virus serology and the severity of the disease course with in 9.5% evolution to SPMS.
19s (2015) S1 – S152
PP08.9 - 2594 Glycine receptor antibody mediated progressive encephalomyelitis with rigidity and myoclonus (PERM) presenting as an abnormal startle response in an adolescent girl A. Patel, S. Boyd, B. Amin, R. Robinson, M. Woodhall, A. Vincent, C. Hemingway, P. Munot. Department of Clinical Neurophysiology, Great Ormond Street Hospital for Children NHS Trust, London, UK; Cambridge University Hospitals NHS Trust, Cambridge, UK; Norfolk & No Objective: To describe a young girl in whom stimulus sensitive spasms were a diagnostic clue to the underlying glycine receptor antibody mediated progressive encephalomyelitis with rigidity and myoclonus (PERM) which has been described mainly in adults. Methods: We illustrate the clinical data from the case-notes with a video recording of stimulus-sensitive spasms. Results: A previously well 15-year-old girl presented with a traumatic head injury after falling down the stairs. The noise from a doorbell had triggered a severe muscle spasm causing the fall. She sustained a complex skull fracture with coup-contrecoup brain injury. She had previously been evaluated over five months for stimulus-sensitive whole body spasms with axial hyperextension without impairment of consciousness. She also had daily stimulus-sensitive myoclonic jerks, headaches and subtle cognitive impairment over the preceding year. Whilst on the paediatric intensive care unit, she was noted to have spontaneous and stimulus-sensitive muscle spasms (EMG duration 360–680 ms with no EEG correlate). She also developed generalised tonic clonic seizures, which were treated with Levetiracetam. A diagnosis of PERM was considered and glycine receptor antibodies were found to be strongly positive in serum and CSF. VGKCcomplex antibodies were also weakly positive but GAD and NMDAR antibodies were negative. Oligoclonal bands were positive in CSF but negative in serum. Paraneoplastic antibodies were negative. Brain MRI showed contusions in the right hemisphere. Body imaging did not identify any tumours. Glycine receptor gene analysis is awaited. Her spasms have improved with a residual mild startle response to touch or loud auditory stimuli. She has a residual left hemiparesis. She was not treated with immunomodulation but will be followed up, and immunotherapy considered if she does not continue to improve and antibodies persist. Conclusion: Glycine receptor antibody-mediated progressive encephalomyelitis with rigidity and myoclonus can present in children as stimulus-sensitive muscle spasms.
PP08.10 - 2608 Multiple sclerosis: Two patients with isolated and multiple cranial neuropathies J.Y. Leow, E. Wassmer, M. Smith. Department of Neurology, Birmingham Children’s Hospital, UK Objective: Abnormal motor signs in multiple sclerosis (MS) are typically due to upper motor neurone lesions. We present 2patients with MS, who developed lower motor neuron cranial nerve (CN) signs. Methods: Retrospective review of case notes of two patients and literature review. Results: AB was diagnosed with hemiplegic migraine aged 8 years with recurrent episodes of hemiplegia associated with headache but normal imaging. At 13 years, she developed severe left hemiplegia and right ptosis without headache. 4 months later, she had an isolated episode of right CN VI palsy, following which a repeat MRI showed numerous areas of demyelination in brain and spinal cord, leading to a diagnosis of MS. Following a second relapse, she had Avonex with good response. CD had relapsing-remitting MS since 12 years. In the first year,he had 6 relapses which involved right hemiparesis, right hemisensory syndrome and right optic neuritis. He was started on Avonex and remained clinically well for 10 months before representing with an exacerbation affecting the left CN
EUROPEAN JOURNAL O F PAEDIATRIC NEUROLOGY
muscle strength was 2/5 on lower extremities and 4/5 in upper extremities. Case 2: A 17-year-old boy with known spondylarthritis presented with complaints of weakness of lower extremities over 10 days. On physical system examination muscle strength was 4/5 on lower extremities and 5/5 on upper extremities. Case 3: A 9-year-old boy was admitted with weakness and pain in the lower extremities over 10 days. His CK was 2988 (150–499 U/L). He was diagnosed as myositis and painkillers were prescribed. Then the weakness gradually worsened involving upper extremities. On physical system examination muscle strength was 4/5 on lower extremities and 2/5 on upper extremities. Results: The deep tendon reflexes were normal in upper and lower extremities on repeated examinations in all of 3 cases. The diagnosis of Guillain Barre Syndrome was made by electrophysiological studies. Conclusion: Although hypo- or areflexia is necessary for clinical diagnosis of GBS, preserved deep tendon reflexes do not exclude the diagnosis of Guillain-Barré syndrome. The electrophysiological studies play a very important role in differentiating it from other causes.
PP08.8 - 2833 Multiple sclerosis in Belgian children: A multicentric retrospective study H. Verhelst, L. De Waele, N. Deconinck, B. Ceulemans, B. Willekens, R. Van Coster. Department of Paediatric Neurology, Ghent University Hospital, Ghent, Belgium Objective: We aim to describe the clinical and laboratory features in Belgian paediatric MS patients. Methods: Twenty one pediatric multiple sclerosis (MS) records from four Belgian University Hospitals were retrospectively analyzed. Results: The study population consists of twenty one MS patients (nine male and twelve female). Median age at presentation was eleven years. In 23.8% of the patients, disease onset was preceded by an infection. One patient (4.8%) had a positive familial history of MS. Seroconversion for Epstein-Barr virus was seen in 93.3%. One third of the patients presented monosymptomatic, 57.1% with vision impairment most frequently due to optic neuritis. An acute disseminated encephalomyelitis-like presentation was seen in 19%. The median time lapse between disease onset and first relapse was eight months, and between disease onset and diagnosis nine months. At diagnosis, all patients had relapsing remitting MS. Median relapse rate was 0.93/year. Most relapses were severe but recovery was complete in most patients. Cerebral MRI at disease onset revealed a median of eight lesions (66.7% juxtacortical, 66.7% infratentorial and 44.4% periventricular). In 19% of the patients, MRI of the spinal cord was performed showing lesions in 75%. In cerebrospinal fluid, white blood cells were increased in 52.6%, IgG-index was increased in 44.4% and oligoclonal bands were detected in 68.4%. Disease modifying therapy was initiated in 71.4% of the patients after a median disease duration of 15.5 months, at a median age of 12.5 years. The median duration of follow-up was 53 months. At last follow-up visit, 19% had reached an EDSS score of three and 9.5% had evolved to secondary progressive MS (SPMS). Conclusion: The presented study cohort illustrates the clinical and laboratory features of paediatric MS highlighting a high incidence of positive Epstein-Barr virus serology and the severity of the disease course with in 9.5% evolution to SPMS.
19s (2015) S1 – S152
PP08.9 - 2594 Glycine receptor antibody mediated progressive encephalomyelitis with rigidity and myoclonus (PERM) presenting as an abnormal startle response in an adolescent girl A. Patel, S. Boyd, B. Amin, R. Robinson, M. Woodhall, A. Vincent, C. Hemingway, P. Munot. Department of Clinical Neurophysiology, Great Ormond Street Hospital for Children NHS Trust, London, UK; Cambridge University Hospitals NHS Trust, Cambridge, UK; Norfolk & No Objective: To describe a young girl in whom stimulus sensitive spasms were a diagnostic clue to the underlying glycine receptor antibody mediated progressive encephalomyelitis with rigidity and myoclonus (PERM) which has been described mainly in adults. Methods: We illustrate the clinical data from the case-notes with a video recording of stimulus-sensitive spasms. Results: A previously well 15-year-old girl presented with a traumatic head injury after falling down the stairs. The noise from a doorbell had triggered a severe muscle spasm causing the fall. She sustained a complex skull fracture with coup-contrecoup brain injury. She had previously been evaluated over five months for stimulus-sensitive whole body spasms with axial hyperextension without impairment of consciousness. She also had daily stimulus-sensitive myoclonic jerks, headaches and subtle cognitive impairment over the preceding year. Whilst on the paediatric intensive care unit, she was noted to have spontaneous and stimulus-sensitive muscle spasms (EMG duration 360–680 ms with no EEG correlate). She also developed generalised tonic clonic seizures, which were treated with Levetiracetam. A diagnosis of PERM was considered and glycine receptor antibodies were found to be strongly positive in serum and CSF. VGKCcomplex antibodies were also weakly positive but GAD and NMDAR antibodies were negative. Oligoclonal bands were positive in CSF but negative in serum. Paraneoplastic antibodies were negative. Brain MRI showed contusions in the right hemisphere. Body imaging did not identify any tumours. Glycine receptor gene analysis is awaited. Her spasms have improved with a residual mild startle response to touch or loud auditory stimuli. She has a residual left hemiparesis. She was not treated with immunomodulation but will be followed up, and immunotherapy considered if she does not continue to improve and antibodies persist. Conclusion: Glycine receptor antibody-mediated progressive encephalomyelitis with rigidity and myoclonus can present in children as stimulus-sensitive muscle spasms.
PP08.10 - 2608 Multiple sclerosis: Two patients with isolated and multiple cranial neuropathies J.Y. Leow, E. Wassmer, M. Smith. Department of Neurology, Birmingham Children’s Hospital, UK Objective: Abnormal motor signs in multiple sclerosis (MS) are typically due to upper motor neurone lesions. We present 2patients with MS, who developed lower motor neuron cranial nerve (CN) signs. Methods: Retrospective review of case notes of two patients and literature review. Results: AB was diagnosed with hemiplegic migraine aged 8 years with recurrent episodes of hemiplegia associated with headache but normal imaging. At 13 years, she developed severe left hemiplegia and right ptosis without headache. 4 months later, she had an isolated episode of right CN VI palsy, following which a repeat MRI showed numerous areas of demyelination in brain and spinal cord, leading to a diagnosis of MS. Following a second relapse, she had Avonex with good response. CD had relapsing-remitting MS since 12 years. In the first year,he had 6 relapses which involved right hemiparesis, right hemisensory syndrome and right optic neuritis. He was started on Avonex and remained clinically well for 10 months before representing with an exacerbation affecting the left CN