- Email: [email protected]
O56 – 1721 The role of probabilistic tractography in the surgical treatment of pediatric brainstem gliomas
S18
E U R O P E A N JO U R N A L O F PAEDIATRIC N E U R O L O G Y
were admitted with the complaint of headache and had a neuroimaging between December 2007 and June 2012 were included in the study. The patients with nonspecific white matter lesions were called for a control visit and current status of headache and neurologic findings were determined. Results: A total of 941 patients were included in the study. 61% of the patients had cranial neuroimaging. 8.2% had only cranial computed tomography, 7.5% had cranial cranial computed tomography and cranial magnetic resonance imaging and 84.3% had only cranial magnetic resonance imaging. The rate of incidental nonspecific white matter changes detected in our study group was 23/527 (4.4%) 14 (60.9%) had migraine without aura, eight (34.8%) had tension type headache and one (4.3%) had migraine with aura. All patients with nonspecific white matter changes on magnetic resonance imaging showed normal psychomotor development. The physical and neurologic examinations of all patients were normal. The mean clinical follow up period of the patients was 16.8±17.3 months. No patients showed neurological deterioration during the follow up. The white matter lesions were supratentorial in all patients. The mean size of the lesions was 5.1±4.5 mm. Repeated radiological evaluations were performed in 11 (47.8%) of the patients. No new white matter lesions were detected in control magnetic resonance imaging’s during follow up. Conclusion: Non specific incidental white matter changes may be seen in children with headache. Normal clinical follow up the absence of evident benefits from repeated imaging studies, we suggest that repeated imaging studies are not warranted in every patient, and should be tailored according to clinical course.
O56 - 1721 The role of probabilistic tractography in the surgical treatment of pediatric brainstem gliomas Máté A, Kis D, Vörös E, Barzó P. Department of Neurosurgery, University of Szeged, Szeged, Hungary – [email protected] Objective: Brainstem gliomas are often considered to be inoperable due to the high surgical risk. However even partial resection of the tumor may considerably increase the efficacy of radiotherapy and can extend survival. This is of special importance in the case of pediatric brainstem gliomas. The localization of the most important anatomical components of the brainstem may significantly decrease surgical risk. Probabilistic tractography is based on diffusion tensor magnetic resonance imaging and enables probabilistic mapping of white matter pathways. Our aim was to investigate whether probabilistic tractography is capable to segment the brainstem by its connections and localize the main ascending and descending pathways in healthy individuals and children with brainstem tumor. Material and methods: 10 children (age range: 5–17 years) with brainstem gliomas and 15 healthy volunteers (age range: 20–30 years) were included in the study. We performed segmentation of the pons and the midbrain (by their connections to the primary motor cortex, sensory and medial thalamus) and ran fiber tracking from the posterior limb of the internal capsule and the dorsolateral pons. Results: Our results revealed that segmentation of the brainstem by probabilistic tractography correlates well with brainstem anatomy. By fiber tracking we could localize motor, sensory and ascending reticular activating system pathways and unequivocally differentiate between expansive (n=6) and infiltrative (n=4) tumors. Navigation surgery was performed in 5 cases (2 subtotal and 3 partial resections). The patients’ neurological status did not deteriorate postoperatively. Conclusion: According to our results, probabilistic tractography seems to be a promising tool in the preoperative investigation of pediatric brainstem gliomas.
17s (2013) S1 – S149
Friday 27 September 2013 Parallel session 10: Movement disorders 2 Chairs: Mary King and Sameer Zuberi O57 - 1880 Progressive ataxia, hyperkinetic movement disorder with myoclonic jerks and falls in a toddler: think of cerebral folate deficiency! Toelle SP, Wille D, Schmitt B, Scheer I, Thöny B, Plecko B. University Children’s Hospital Zurich, Division of Neurology, Switserland – [email protected] Cerebral folate deficiency (CFD) is characterized by decreased concentrations of 5- methyltetrahydrofolate (5-MTHF) in CSF in the context of normal systemic folate metabolism. Mutations in the FOLR1 gene lead to a specific inability to transport 5MTHF across the blood-brain barrier, resulting in progressive, severe neurological sequelae. A 5-year-old boy presented with progressive ataxia of trunk and limbs, a hyperkinetic movement disorder with myoclonic jerks, head stereotypies associated with abnormal eye movements, and daily attacks with sudden falls. These falls were to some extent triggered by body care as blowing his nose, washing his face or hands. They occurred up to more than 20 times per day, resembling myoclonic astatic seizures with a rapid, brief flexion of the neck and the trunk and extension of the arms, reminiscent of infantile spasms. They lasted only 1–2 seconds but led to head injuries and were refractory to anticonvulsive treatment. The patients’ cognitive and motor abilities deteriorated and he became very impulsive. MRI of the brain revealed hypomyelination and mild cerebellar atrophy, CT showed calcification within the basal ganglia (not visible on MRI), and 5-MTHF in the spinal fluid was measured 0.0 nmol/l whereas plasma folate was normal. The diagnosis of folate transporter deficiency was confirmed by identification of the homozygous nonsense mutation p.R204X in the FOLR1 gene, a mutation that was previously described. Treatment with oral and intravenous folinic acid resulted in impressive brain growth within months documented on imaging and obvious clinical improvement. Young children with ataxia, hyperkinetic movement disorder and seizures, typically combined with abnormal myelination should be screened for CFD, particularly in regard to the treatment option of this severe neurometabolic disorder. Calcifications within the basal ganglia can be a diagnostic finding not reported so far in the context of folate transporter deficiency.
O58 - 2017 Gabapentin can improve dystonia severity, transfers, sitting, sleep, mood and pain in children Liow N, Marianczak J, Kirk E, Tomlin S, Lumsden D, Gimeno H, Kaminska M, Perides S, Lin JP. Complex Motor Disorders Service Children’s Neurosciences Centre, Evelina Children’s Hospital, Guy’s and St. Thomas’ NHS Foundation Trust, UK – [email protected] Objectives: This report examines the precedence and efficacy of gabapentin use with a literature review and retrospective cohort study. Methods: Pubmed and embase literature reviews examined gabapentin use in movement disorders, doses used, adverse effects and graded according to the Oxford CEBM Levels of Evidence criteria. Case-notes of children receiving gabapentin in the last four years were reviewed. Dystonia severity and functional levels were graded using the Dystonia Severity Assessment Plan (DSAP) and International Classification of Functioning, Disability and Health, Children & Youth version (ICF) respectively, before and after the use of gabapentin. ICF domains included seating tolerance, involuntary muscle contractions, sleep amount
E U R O P E A N JO U R N A L O F PAEDIATRIC N E U R O L O G Y
were admitted with the complaint of headache and had a neuroimaging between December 2007 and June 2012 were included in the study. The patients with nonspecific white matter lesions were called for a control visit and current status of headache and neurologic findings were determined. Results: A total of 941 patients were included in the study. 61% of the patients had cranial neuroimaging. 8.2% had only cranial computed tomography, 7.5% had cranial cranial computed tomography and cranial magnetic resonance imaging and 84.3% had only cranial magnetic resonance imaging. The rate of incidental nonspecific white matter changes detected in our study group was 23/527 (4.4%) 14 (60.9%) had migraine without aura, eight (34.8%) had tension type headache and one (4.3%) had migraine with aura. All patients with nonspecific white matter changes on magnetic resonance imaging showed normal psychomotor development. The physical and neurologic examinations of all patients were normal. The mean clinical follow up period of the patients was 16.8±17.3 months. No patients showed neurological deterioration during the follow up. The white matter lesions were supratentorial in all patients. The mean size of the lesions was 5.1±4.5 mm. Repeated radiological evaluations were performed in 11 (47.8%) of the patients. No new white matter lesions were detected in control magnetic resonance imaging’s during follow up. Conclusion: Non specific incidental white matter changes may be seen in children with headache. Normal clinical follow up the absence of evident benefits from repeated imaging studies, we suggest that repeated imaging studies are not warranted in every patient, and should be tailored according to clinical course.
O56 - 1721 The role of probabilistic tractography in the surgical treatment of pediatric brainstem gliomas Máté A, Kis D, Vörös E, Barzó P. Department of Neurosurgery, University of Szeged, Szeged, Hungary – [email protected] Objective: Brainstem gliomas are often considered to be inoperable due to the high surgical risk. However even partial resection of the tumor may considerably increase the efficacy of radiotherapy and can extend survival. This is of special importance in the case of pediatric brainstem gliomas. The localization of the most important anatomical components of the brainstem may significantly decrease surgical risk. Probabilistic tractography is based on diffusion tensor magnetic resonance imaging and enables probabilistic mapping of white matter pathways. Our aim was to investigate whether probabilistic tractography is capable to segment the brainstem by its connections and localize the main ascending and descending pathways in healthy individuals and children with brainstem tumor. Material and methods: 10 children (age range: 5–17 years) with brainstem gliomas and 15 healthy volunteers (age range: 20–30 years) were included in the study. We performed segmentation of the pons and the midbrain (by their connections to the primary motor cortex, sensory and medial thalamus) and ran fiber tracking from the posterior limb of the internal capsule and the dorsolateral pons. Results: Our results revealed that segmentation of the brainstem by probabilistic tractography correlates well with brainstem anatomy. By fiber tracking we could localize motor, sensory and ascending reticular activating system pathways and unequivocally differentiate between expansive (n=6) and infiltrative (n=4) tumors. Navigation surgery was performed in 5 cases (2 subtotal and 3 partial resections). The patients’ neurological status did not deteriorate postoperatively. Conclusion: According to our results, probabilistic tractography seems to be a promising tool in the preoperative investigation of pediatric brainstem gliomas.
17s (2013) S1 – S149
Friday 27 September 2013 Parallel session 10: Movement disorders 2 Chairs: Mary King and Sameer Zuberi O57 - 1880 Progressive ataxia, hyperkinetic movement disorder with myoclonic jerks and falls in a toddler: think of cerebral folate deficiency! Toelle SP, Wille D, Schmitt B, Scheer I, Thöny B, Plecko B. University Children’s Hospital Zurich, Division of Neurology, Switserland – [email protected] Cerebral folate deficiency (CFD) is characterized by decreased concentrations of 5- methyltetrahydrofolate (5-MTHF) in CSF in the context of normal systemic folate metabolism. Mutations in the FOLR1 gene lead to a specific inability to transport 5MTHF across the blood-brain barrier, resulting in progressive, severe neurological sequelae. A 5-year-old boy presented with progressive ataxia of trunk and limbs, a hyperkinetic movement disorder with myoclonic jerks, head stereotypies associated with abnormal eye movements, and daily attacks with sudden falls. These falls were to some extent triggered by body care as blowing his nose, washing his face or hands. They occurred up to more than 20 times per day, resembling myoclonic astatic seizures with a rapid, brief flexion of the neck and the trunk and extension of the arms, reminiscent of infantile spasms. They lasted only 1–2 seconds but led to head injuries and were refractory to anticonvulsive treatment. The patients’ cognitive and motor abilities deteriorated and he became very impulsive. MRI of the brain revealed hypomyelination and mild cerebellar atrophy, CT showed calcification within the basal ganglia (not visible on MRI), and 5-MTHF in the spinal fluid was measured 0.0 nmol/l whereas plasma folate was normal. The diagnosis of folate transporter deficiency was confirmed by identification of the homozygous nonsense mutation p.R204X in the FOLR1 gene, a mutation that was previously described. Treatment with oral and intravenous folinic acid resulted in impressive brain growth within months documented on imaging and obvious clinical improvement. Young children with ataxia, hyperkinetic movement disorder and seizures, typically combined with abnormal myelination should be screened for CFD, particularly in regard to the treatment option of this severe neurometabolic disorder. Calcifications within the basal ganglia can be a diagnostic finding not reported so far in the context of folate transporter deficiency.
O58 - 2017 Gabapentin can improve dystonia severity, transfers, sitting, sleep, mood and pain in children Liow N, Marianczak J, Kirk E, Tomlin S, Lumsden D, Gimeno H, Kaminska M, Perides S, Lin JP. Complex Motor Disorders Service Children’s Neurosciences Centre, Evelina Children’s Hospital, Guy’s and St. Thomas’ NHS Foundation Trust, UK – [email protected] Objectives: This report examines the precedence and efficacy of gabapentin use with a literature review and retrospective cohort study. Methods: Pubmed and embase literature reviews examined gabapentin use in movement disorders, doses used, adverse effects and graded according to the Oxford CEBM Levels of Evidence criteria. Case-notes of children receiving gabapentin in the last four years were reviewed. Dystonia severity and functional levels were graded using the Dystonia Severity Assessment Plan (DSAP) and International Classification of Functioning, Disability and Health, Children & Youth version (ICF) respectively, before and after the use of gabapentin. ICF domains included seating tolerance, involuntary muscle contractions, sleep amount