Secondary Abnormal CSF Neurotransmitter Metabolite Profiles in a Pediatric Tertiary Care Centre
| Autor: | Clara D.M. van Karnebeek, Bryan Sayson, Mary Dunbar, Csilla Egri, Janetta Milea, Mary B. Connolly, Linda Huh, Sylvia Stockler-Ipsiroglu, Gabriella Horvath |
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| Přispěvatelé: | AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Paediatric Metabolic Diseases |
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Male medicine.medical_specialty Movement disorders Tertiary Care Centers 03 medical and health sciences Epilepsy chemistry.chemical_compound 0302 clinical medicine Cerebrospinal fluid Metabolic Diseases Dopamine Internal medicine Medicine Humans Prospective cohort study Neurotransmitter Retrospective Studies Neurotransmitter Agents Movement Disorders medicine.diagnostic_test business.industry Magnetic resonance imaging General Medicine medicine.disease Magnetic Resonance Imaging 030104 developmental biology Neurology chemistry Child Preschool Cohort Anticonvulsants Female Neurology (clinical) medicine.symptom business 030217 neurology & neurosurgery medicine.drug Follow-Up Studies |
| Zdroj: | Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques, 45(2), 206-213. Cambridge University Press |
| ISSN: | 0317-1671 |
| Popis: | Background:Secondary neurotransmitter deficiencies have been reported in several reviews. Our primary aim was to assess the relationship among epilepsy, antiseizure medications, and specific neurotransmitter abnormalities. We also evaluated movement disorders and brain abnormalities via magnetic resonance imaging scans in patients with secondary neurotransmitter defects.Methods:This is a retrospective case series of 376 patients who underwent neurotransmitter analysis at BC Children’s Hospital between 2009 and 2013, for a variety of neurological presentations. The biochemical genetics laboratory database was interrogated for results of cerebrospinal fluid neurotransmitter analyses. Clinical data for patients with abnormal results were collected from the hospital charts. Statistical analysis included one-way analysis of variance, chi-square, and a two-way contingency table.Results:Abnormal neurotransmitter values were identified in 67 (17.8%) patients, two (0.53%) of which were attributable to a congenital neurotransmitter disorder and 11 (16.9%) secondary to other genetic diagnoses. Of 64 patients with secondary abnormal neurotransmitter values, 38 (59%) presented with epilepsy and 20 (31%) with movement disorders. A combination of epilepsy and movement disorder was less frequent.Discussion:Acknowledging the limitations of this retrospective chart review, we conclude that, in our cohort, in addition to patients with movement disorders, a considerable number of patients with epilepsy and epileptic encephalopathy also showed secondary neurotransmitter mono-amine abnormalities. There is no clear relation, however, between clinical phenotype and type of neurotransmitter affected. In addition, no association was identified between the type of antiseizure medications and affected neurotransmitter type. We outline the need for prospective studies to further enrich our understanding of the relation between epilepsy and neurotransmitters with a focus on improving treatments and patient outcomes. |
| Databáze: | OpenAIRE |
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