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  • 1.
    Ehrstedt, Christoffer
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Glioneuronal tumours in childhood: Clinical picture, long-term outcome and possible new treatments2019Doctoral thesis, comprehensive summary (Other academic)
    Abstract [en]

    Background: Glioneuronal tumours are a subgroup of low-grade tumours of the central nervous system (CNS), often causing epilepsy. Overall survival is excellent, but data regarding long-term seizure outcome and late effects are scarce.

    Aims: The overall aim was to gather data about pre- and postsurgical factors of importance and long-term outcomes to improve standards of care. Another aim was to explore the expression of somatostatin receptor (SSTR) subtypes and mTOR pathway markers.

    Methods: This thesis, based on four population-based studies with both retrospective and cross-sectional parts, was performed through a long-term follow-up of a Swedish cohort of children with glioneuronal tumours in the Uppsala-Örebro health region. Patients were identified from the National Brain Tumour Registry and the National Epilepsy Surgery Registry. Various methods were used: reviews of hospital medical records, patient interviews, health-related quality of life (HRQoL) assessments with generic (Short Form 36version2) and disease specific (Quality of Life in Epilepsy-31) questionnaires, neuropsychological evaluations with Wechsler Intelligence Scale for Children-IV or Wechsler Adult Intelligence Test-IV and Reys Complex Figure Test and evaluation for possible depression with Hospital Anxiety Depression Scale. Immunohistochemical analyses for SSTR subtypes 1, 2a, 3 and 5 and mTOR pathway components ezrin-radixin-moesin and pS6 were performed on tumour specimens.

    Results: Glioneuronal tumours seem to be more frequent than previously reported, accounting for 13.5% of all childhood CNS tumours. They often cause medically refractory epilepsy resulting in cognitive impairment. Neurosurgery was often delayed; mean time from symptom debut to lesionectomy was 4.6 years. Long-term seizure freedom was achieved in 84% of patients who had a gross total resection (GTR) and is important for long-term cognitive restitution, HRQoL, educational and vocational outcomes. SSTR2a and SSTR3 expression was a frequent finding in glioneuronal tumours. Signs of mTOR pathway activation were abundant in ganglioglioma.

    Conclusions: A safe GTR should be striven for and considered a first-line treatment. Long-term clinical follow-up should be offered to all patients and for those with an inoperable tumour/tumour remnant causing tumour growth and/or medically refractory epilepsy, somatostatin analogues and/or mTOR inhibitors might represent a therapeutic alternative worth exploring further.

    List of papers
    1. Clinical characteristics and late effects in CNS tumours of childhood: Do not forget long term follow-up of the low grade tumours
    Open this publication in new window or tab >>Clinical characteristics and late effects in CNS tumours of childhood: Do not forget long term follow-up of the low grade tumours
    Show others...
    2016 (English)In: European journal of paediatric neurology, ISSN 1090-3798, E-ISSN 1532-2130, Vol. 20, no 4, p. 580-587Article in journal (Refereed) Published
    Abstract [en]

    Aim: To investigate clinical characteristics and late effects of CNS tumours in childhood with a special focus on low-grade tumours, especially low-grade astrocytoma and glib neuronal tumours. Methods: A retrospective population based study was performed at Uppsala University Children's Hospital, a tertiary referral centre for children with CNS tumours. Patients were identified from the National Brain Tumour Registry and the National Epilepsy Surgery Registry. Hospital medical records were analysed for patients with a follow up of >= 5 years after diagnosis. A re-evaluation of the neuro-pathological diagnosis was performed. Results: A total of 193 patients (age 0-17.99 years) during a twelve-year period (1995-2006) were included; 149 survived >= 5 years. Three larger subgroups could be identified: astrocytic, embryonal and glioneuronal tumours. A supratentorial location was found in 52%. Medical late effects were mainly neurological and endocrinological, affecting 81% and 26% of surviving patients. Cognitive late effects were a frequent finding in the whole group but also in low-grade astrocytoma and glioneuronal tumours (53% and 67%). Thirty per cent had some kind of pedagogic support in school. Conclusion: Late effects are common in long-term survivors of CNS tumours in childhood. Low-grade astrocytoma and glioneuronal tumours are no exception, and the findings support the need for long-term follow up.

    Keywords
    Childhood, CNS-tumour, Cognitive, Late effects, Low grade
    National Category
    Neurology Pediatrics Clinical Laboratory Medicine
    Research subject
    Pathology
    Identifiers
    urn:nbn:se:uu:diva-300544 (URN)10.1016/j.ejpn.2016.04.009 (DOI)000379106700014 ()27157245 (PubMedID)
    Available from: 2016-08-10 Created: 2016-08-09 Last updated: 2019-04-02Bibliographically approved
    2. Glioneuronal tumors in childhood - Before and after surgery. A long-term follow-up study
    Open this publication in new window or tab >>Glioneuronal tumors in childhood - Before and after surgery. A long-term follow-up study
    Show others...
    2017 (English)In: Epilepsy & Behavior, ISSN 1525-5050, E-ISSN 1525-5069, Vol. 72, p. 82-88Article in journal (Refereed) Published
    Abstract [en]

    Aim: To give a detailed description of the long-term outcome of a cohort of children with glioneuronal tumors regarding pre-and postsurgical factors, including "dual" and "double" pathology, seizure freedom, and psychosocial outcome.

    Methods: During a fifteen-year period (1995-2009), all patients (age 0-17.99 years) with a glioneuronal brain tumor diagnosed and treated at Uppsala University Children's Hospital were identified from the National Brain Tumor Registry and the National Epilepsy Surgery Registry. Hospital medical records were reviewed and neuroradiological and neuropathological findings were re-evaluated. A cross-sectional long-term follow-up prospective evaluation, including an interview, neurologic examination, and electroencephalogram, was accomplished in patients accepting participants in the study.

    Results: A total of 25 out of 28 (89%) eligible patientswere included. The M: F ratiowas 1.5: 1. Mean follow-up time after surgery was 12.1 years (range 5.0-19.3). Twenty patients were adults (N18 years) at follow-up. Seizure freedomwas achieved in 64%. Gross total resection (GTR) was the only preoperative factor significantly correlating to seizure freedom (p= 0.027). Thirty-eight percent were at some time postoperatively admitted for a psychiatric evaluation. There was a trend towards both higher educational level and employment status in adults who became seizure free.

    Conclusion: Long-termoutcome is good regarding seizure freedom if GTR can be achieved, but late seizure recurrence can occur. "Dual" and "double" pathology is uncommon and does not influence seizure outcome. Obtaining seizure freedomseems to be important for psychosocial outcome, but there is a risk for psychiatric comorbidities and long-term follow-up by a multi-professional team is advisable.

    Place, publisher, year, edition, pages
    ACADEMIC PRESS INC ELSEVIER SCIENCE, 2017
    Keywords
    Glioneuronal tumor, Childhood, "Dual" pathology, "Double" pathology, Seizure outcome, Psychosocial outcome
    National Category
    Medical and Health Sciences
    Identifiers
    urn:nbn:se:uu:diva-333399 (URN)10.1016/j.yebeh.2017.02.012 (DOI)000406321300015 ()28575773 (PubMedID)
    Available from: 2017-11-16 Created: 2017-11-16 Last updated: 2019-01-07Bibliographically approved
    3. Cognition, health-related quality of life, and mood in children and young adults diagnosed with a glioneuronal tumor in childhood
    Open this publication in new window or tab >>Cognition, health-related quality of life, and mood in children and young adults diagnosed with a glioneuronal tumor in childhood
    Show others...
    2018 (English)In: Epilepsy & Behavior, ISSN 1525-5050, E-ISSN 1525-5069, Vol. 83, p. 59-66Article in journal (Refereed) Published
    Abstract [en]

    Aims: The aim of this study was to investigate long-term cognitive outcome, health-related quality of life (HRQoL), and psychiatric symptoms in children and young adults diagnosed with a glioneuronal tumor in childhood.

    Methods: Twenty-eight children and adolescents (0-17.99 years) with a minimum postoperative follow-up time of five years were eligible for the study; four persons declined participation. A cross-sectional long-term follow-up evaluation was performed using the following study measures: Wechsler Intelligence Scale for Children (WISC-IV) or Wechsler Adult Intelligence Scale (WAIS-IV), Reys Complex Figure Test (RCFT), Short Form 36 version 2 (SF-36v2), Short Form 10 (SF-10), Quality of Life in Epilepsy 31 (QOLIE-31), Hospital Anxiety Depression Scale (HADS) or Beck Youth Inventory Scales (BYI), and Rosenberg Self-Esteem Scale. Historical WISC-III and RCFT data were used to compare cognitive longitudinal data.

    Results: Mean follow-up time after surgery was 12.1 years. Sixty-three percent (15/24) were seizure-free. Despite a successive postoperative gain in cognitive function, a significant reduction relative to norms was seen in the seizure-free group with respect to perceptual reasoning index (PRI), working memory index (WMI), and full-scale intelligence quotient (FSIQ). Seizure freedom resulted in acceptable HRQoL. Thirty-two percent and 16% exceeded the threshold level of possible anxiety and depression, respectively, despite seizure freedom.

    Conclusion: Although lower than in corresponding reference groups, cognitive outcome and HRQoL are good provided that seizure freedom or at least a low seizure severity can be achieved. There is a risk of elevated levels of psychiatric symptoms. Long-term clinical follow-up is advisable.

    Keywords
    Glioneuronal brain tumors, Cognition, Quality of life, Mood, Long-term outcome
    National Category
    Pediatrics
    Identifiers
    urn:nbn:se:uu:diva-357694 (URN)10.1016/j.yebeh.2018.03.026 (DOI)000434400600009 ()29654937 (PubMedID)
    Available from: 2018-08-22 Created: 2018-08-22 Last updated: 2019-01-07Bibliographically approved
    4. Somatostatin receptor expression and mTOR pathway activation in glioneuronal tumours of childhood
    Open this publication in new window or tab >>Somatostatin receptor expression and mTOR pathway activation in glioneuronal tumours of childhood
    Show others...
    (English)Manuscript (preprint) (Other academic)
    National Category
    Pediatrics
    Identifiers
    urn:nbn:se:uu:diva-371905 (URN)
    Available from: 2019-01-03 Created: 2019-01-03 Last updated: 2019-01-07
  • 2.
    Ehrstedt, Christoffer
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Ahlsten, Gunnar
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Research group (Dept. of women´s and children´s health), Neuropediatrics/Paediatric oncology.
    Strömberg, Bo
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Research group (Dept. of women´s and children´s health), Neuropediatrics/Paediatric oncology.
    Lindskog, Cecilia
    Uppsala University, Science for Life Laboratory, SciLifeLab. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Clinical and experimental pathology.
    Casar Borota, Olivera
    Uppsala University, Science for Life Laboratory, SciLifeLab. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Clinical and experimental pathology.
    Somatostatin receptor expression and mTOR pathway activation in glioneuronal tumours of childhoodManuscript (preprint) (Other academic)
  • 3.
    Ehrstedt, Christoffer
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Research group (Dept. of women´s and children´s health), Neuropediatrics/Paediatric oncology.
    Canto Moreira, Nuno
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Surgical Sciences, Radiology.
    Casar Borota, Olivera
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Clinical and experimental pathology.
    Strömberg, Bo
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Research group (Dept. of women´s and children´s health), Neuropediatrics/Paediatric oncology.
    Ahlsten, Gunnar
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Research group (Dept. of women´s and children´s health), Neuropediatrics/Paediatric oncology.
    Glioneuronal tumors in childhood - Before and after surgery. A long-term follow-up study2017In: Epilepsy & Behavior, ISSN 1525-5050, E-ISSN 1525-5069, Vol. 72, p. 82-88Article in journal (Refereed)
    Abstract [en]

    Aim: To give a detailed description of the long-term outcome of a cohort of children with glioneuronal tumors regarding pre-and postsurgical factors, including "dual" and "double" pathology, seizure freedom, and psychosocial outcome.

    Methods: During a fifteen-year period (1995-2009), all patients (age 0-17.99 years) with a glioneuronal brain tumor diagnosed and treated at Uppsala University Children's Hospital were identified from the National Brain Tumor Registry and the National Epilepsy Surgery Registry. Hospital medical records were reviewed and neuroradiological and neuropathological findings were re-evaluated. A cross-sectional long-term follow-up prospective evaluation, including an interview, neurologic examination, and electroencephalogram, was accomplished in patients accepting participants in the study.

    Results: A total of 25 out of 28 (89%) eligible patientswere included. The M: F ratiowas 1.5: 1. Mean follow-up time after surgery was 12.1 years (range 5.0-19.3). Twenty patients were adults (N18 years) at follow-up. Seizure freedomwas achieved in 64%. Gross total resection (GTR) was the only preoperative factor significantly correlating to seizure freedom (p= 0.027). Thirty-eight percent were at some time postoperatively admitted for a psychiatric evaluation. There was a trend towards both higher educational level and employment status in adults who became seizure free.

    Conclusion: Long-termoutcome is good regarding seizure freedom if GTR can be achieved, but late seizure recurrence can occur. "Dual" and "double" pathology is uncommon and does not influence seizure outcome. Obtaining seizure freedomseems to be important for psychosocial outcome, but there is a risk for psychiatric comorbidities and long-term follow-up by a multi-professional team is advisable.

  • 4.
    Ehrstedt, Christoffer
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Pediatrics.
    Kristiansen, Ingela
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Pediatrics.
    Ahlsten, Gunnar
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Pediatrics.
    Casar Borota, Olivera
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Clinical and experimental pathology.
    Dahl, Margareta
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Pediatrics.
    Libard, Sylwia
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Clinical and experimental pathology.
    Strömberg, Bo
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Pediatrics.
    Clinical characteristics and late effects in CNS tumours of childhood: Do not forget long term follow-up of the low grade tumours2016In: European journal of paediatric neurology, ISSN 1090-3798, E-ISSN 1532-2130, Vol. 20, no 4, p. 580-587Article in journal (Refereed)
    Abstract [en]

    Aim: To investigate clinical characteristics and late effects of CNS tumours in childhood with a special focus on low-grade tumours, especially low-grade astrocytoma and glib neuronal tumours. Methods: A retrospective population based study was performed at Uppsala University Children's Hospital, a tertiary referral centre for children with CNS tumours. Patients were identified from the National Brain Tumour Registry and the National Epilepsy Surgery Registry. Hospital medical records were analysed for patients with a follow up of >= 5 years after diagnosis. A re-evaluation of the neuro-pathological diagnosis was performed. Results: A total of 193 patients (age 0-17.99 years) during a twelve-year period (1995-2006) were included; 149 survived >= 5 years. Three larger subgroups could be identified: astrocytic, embryonal and glioneuronal tumours. A supratentorial location was found in 52%. Medical late effects were mainly neurological and endocrinological, affecting 81% and 26% of surviving patients. Cognitive late effects were a frequent finding in the whole group but also in low-grade astrocytoma and glioneuronal tumours (53% and 67%). Thirty per cent had some kind of pedagogic support in school. Conclusion: Late effects are common in long-term survivors of CNS tumours in childhood. Low-grade astrocytoma and glioneuronal tumours are no exception, and the findings support the need for long-term follow up.

  • 5.
    Ehrstedt, Christoffer
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Pediatrics.
    Laurencikas, Evaldas
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Björklund, Ann-Christin
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Strömberg, Bo
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Pediatrics.
    Hedborg, Fredrik
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Pediatrics.
    Pfeifer, Susan
    Weekly vinblastine is a therapeutic option in recurrent/refractory pediatric low-grade gliomas2012In: Neuro-Oncology, ISSN 1522-8517, E-ISSN 1523-5866, Vol. 14, no suppl 1, p. i70-i70Article in journal (Other academic)
    Abstract [en]

    BACKGROUND: In a majority of cases efficient treatment of low-grade gliomas in the pediatric population is achieved by surgery, sometimes accompanied by chemotherapy according to the LGG SIOP 2003 protocol. However, some cases of LGG is refractory, treatment options in these cases often consists of LGG SIOP 2003 relapse protocol or radiotherapy. Vinblastine can be used as a secondline chemotherapy.

    METHODS: Four patients with refractory low grade gliomas were given vinblastine intravenously. These patients had previously failed chemotherapy and/or radiation for unresectable low-grade glioma. Tumor location has differed, 1 brainstem, 1 optic pathway, 1 thalamus, 1 cerebellar. Three of the patients were given vinblastine at a dose of 6mg/m2 weekly, the fourth patient received a 50% dose reduction because of intolerable side-effects. The treatment was given for at least 12 months in three of the cases.

    RESULTS: There have been significant reduction of tumor size in the 3 patients who have received vinblastine for at least 12 months. Response to treatment has been followed at three months interval with MRI. None of the patients have been forced to discontinue the treatment because of intolerable side-effects. The fourth patient has been treated for three months and follow-up with MRI indicates a slight reduction of tumor size.

    CONCLUSION: Vinblastine should be considered as a secondline chemotherapy in refractory low grade gliomas. Extended administration (>12 months) seems to be tolerated well. If untolerable side effects dose reduction should be tried.

  • 6.
    Ehrstedt, Christoffer
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Research group (Dept. of women´s and children´s health), Neuropediatrics/Paediatric oncology.
    Rydell, Ann-Margret
    Uppsala University, Disciplinary Domain of Humanities and Social Sciences, Faculty of Social Sciences, Department of Psychology.
    Hallsten, Marina Gabert
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Research group (Dept. of women´s and children´s health), Neuropediatrics/Paediatric oncology.
    Strömberg, Bo
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Research group (Dept. of women´s and children´s health), Neuropediatrics/Paediatric oncology.
    Ahlsten, Gunnar
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Research group (Dept. of women´s and children´s health), Neuropediatrics/Paediatric oncology.
    Cognition, Health-Related Quality Of Life and Mood in Children and Young Adults Diagnosed with a Glioneuronal Tumor in Childhood2018In: Neuro-Oncology, ISSN 1522-8517, E-ISSN 1523-5866, Vol. 20, p. 161-161Article in journal (Other academic)
  • 7.
    Ehrstedt, Christoffer
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Research group (Dept. of women´s and children´s health), Neuropediatrics/Paediatric oncology. Uppsala Univ, Childrens Hosp, Uppsala, Sweden.
    Rydell, Ann-Margret
    Uppsala University, Disciplinary Domain of Humanities and Social Sciences, Faculty of Social Sciences, Department of Psychology.
    Hallsten, Marina Gabert
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Research group (Dept. of women´s and children´s health), Neuropediatrics/Paediatric oncology. Uppsala Univ, Childrens Hosp, Uppsala, Sweden.
    Strömberg, Bo
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Research group (Dept. of women´s and children´s health), Neuropediatrics/Paediatric oncology. Uppsala Univ, Childrens Hosp, Uppsala, Sweden.
    Ahlsten, Gunnar
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Research group (Dept. of women´s and children´s health), Neuropediatrics/Paediatric oncology. Uppsala Univ, Childrens Hosp, Uppsala, Sweden.
    Cognition, health-related quality of life, and mood in children and young adults diagnosed with a glioneuronal tumor in childhood2018In: Epilepsy & Behavior, ISSN 1525-5050, E-ISSN 1525-5069, Vol. 83, p. 59-66Article in journal (Refereed)
    Abstract [en]

    Aims: The aim of this study was to investigate long-term cognitive outcome, health-related quality of life (HRQoL), and psychiatric symptoms in children and young adults diagnosed with a glioneuronal tumor in childhood.

    Methods: Twenty-eight children and adolescents (0-17.99 years) with a minimum postoperative follow-up time of five years were eligible for the study; four persons declined participation. A cross-sectional long-term follow-up evaluation was performed using the following study measures: Wechsler Intelligence Scale for Children (WISC-IV) or Wechsler Adult Intelligence Scale (WAIS-IV), Reys Complex Figure Test (RCFT), Short Form 36 version 2 (SF-36v2), Short Form 10 (SF-10), Quality of Life in Epilepsy 31 (QOLIE-31), Hospital Anxiety Depression Scale (HADS) or Beck Youth Inventory Scales (BYI), and Rosenberg Self-Esteem Scale. Historical WISC-III and RCFT data were used to compare cognitive longitudinal data.

    Results: Mean follow-up time after surgery was 12.1 years. Sixty-three percent (15/24) were seizure-free. Despite a successive postoperative gain in cognitive function, a significant reduction relative to norms was seen in the seizure-free group with respect to perceptual reasoning index (PRI), working memory index (WMI), and full-scale intelligence quotient (FSIQ). Seizure freedom resulted in acceptable HRQoL. Thirty-two percent and 16% exceeded the threshold level of possible anxiety and depression, respectively, despite seizure freedom.

    Conclusion: Although lower than in corresponding reference groups, cognitive outcome and HRQoL are good provided that seizure freedom or at least a low seizure severity can be achieved. There is a risk of elevated levels of psychiatric symptoms. Long-term clinical follow-up is advisable.

  • 8.
    Hjartarson, Helgi Thor
    et al.
    Astrid Lindgren Childrens Hosp, Dept Neuropediat, Q302, S-17176 Stockholm, Sweden..
    Ehrstedt, Christoffer
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Research group (Dept. of women´s and children´s health), Neuropediatrics/Paediatric oncology.
    Tedroff, Kristina
    Astrid Lindgren Childrens Hosp, Dept Neuropediat, Q302, S-17176 Stockholm, Sweden.;Karolinska Inst, Dept Womens & Childrens Hlth, Stockholm, Sweden..
    Intrathecal baclofen treatment an option in X-linked adrenoleukodystrophy2018In: European journal of paediatric neurology, ISSN 1090-3798, E-ISSN 1532-2130, Vol. 22, no 1, p. 178-181Article in journal (Refereed)
    Abstract [en]

    Background: X-linked adrenoleukodystrophy (X-ALD) is a genetic peroxisomal disorder associated with tissue accumulation of very long chain fatty acids (VLCFAs). In approximately one third of affected males, this causes progressive and irreversible damage to the brain white matter. Progress is often rapid with upper motor neuron damage leading to severe spasticity and dystonia. The increased muscle tone is frequently difficult to alleviate with oral drugs. Here, we describe two patients with X-ALD who have received treatment with intrathecal baclofen pumps (ITB). Case study: Both boys had a rapidly progressive cerebral form of the disorder resulting, among other things, in escalating spasticity and dystonia causing severe pain, dramatically reducing their quality of life. Both were treated with a variety of oral medications without adequate relief. Both patients tolerated ITB surgery without complications and the positive clinical effects of treatment with ITB became clear in the following weeks and months, with significantly reduced muscle tone, less pain and better sleep. Moreover, general caretaking became easier. Conclusion: The treatment of spasticity and dystonia in these patients is difficult partly due to the relentless nature of this progressive disorder. In our two patients, ITB has been effective from both a symptomatic and palliative perspective. We recommend that such treatment be considered as an early option for increased muscle tone in boys with the cerebral form of X-ALD. (C) 2017 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  • 9.
    Roos, S.
    et al.
    Department of Pathology, Institute of Biomedicine, The Sahlgrenska Academy at the University of Gothenburg, Sweden.
    Lindgren, U.
    Department of Pathology, Institute of Biomedicine, The Sahlgrenska Academy at the University of Gothenburg, Sweden.
    Ehrstedt, Christoffer
    Department of Women's and Children's Health, Uppsala University Children's Hospital, Sweden.
    Moslemi, A. R.
    Department of Pathology, Institute of Biomedicine, The Sahlgrenska Academy at the University of Gothenburg, Sweden.
    Oldfors, A.
    epartment of Pathology, Institute of Biomedicine, The Sahlgrenska Academy at the University of Gothenburg, Sweden.
    Mitochondrial DNA depletion in single fibers in a patient with novel TK2 mutations2014In: Neuromuscular Disorders, ISSN 0960-8966, E-ISSN 1873-2364, Vol. 24, no 8, p. 713-720Article in journal (Refereed)
    Abstract [en]

    The mitochondrial DNA (mtDNA) depletion syndrome is a genetically heterogeneous group of diseases caused by nuclear gene mutations and secondary reduction in mtDNA copy number. We describe a patient with progressive muscle weakness and increased creatine kinase and lactate levels. Muscle weakness was first noted at age 1.5 years and he died of respiratory failure and bronchopneumonia at age 3.5 years. The muscle biopsy showed dystrophic features with ragged red fibers and numerous cytochrome c oxidase (COX)-negative fibers. qPCR analysis demonstrated depletion of mtDNA and sequence analysis of the mitochondrial thymidine kinase 2 (TK2) gene revealed two novel heterozygous variants, c.332C > T, p.(T111I) and c.156 + 5G > C. Quantitative analysis of mtDNA in single muscle fibers demonstrated that COX-deficient fibers showed more pronounced depletion of mtDNA when compared with fibers with residual COX activity (P < 0.01, n = 25). There was no evidence of manifestations from other organs than skeletal muscle although there was an apparent reduction of mtDNA copy number also in liver. The patient showed a pronounced, albeit transient, improvement in muscle strength after onset of treatment with coenzyme Q10, asparaginase, and increased energy intake, suggesting that nutritional modulation may be a therapeutic option in myopathic mtDNA depletion syndrome.

  • 10. Roos, S.
    et al.
    Lindgren, U.
    Ehrstedt, Christoffer
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Pediatrics.
    Moslemi, A. R.
    Oldfors, A.
    Mitochondrial DNA depletion in single fibers in a patient with novel TK2 mutations2014In: Neuromuscular Disorders, ISSN 0960-8966, E-ISSN 1873-2364, Vol. 24, no 9-10, p. 865-865Article in journal (Other academic)
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