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Lookup NU author(s): Dr David Lewis-Smith,
Dr Anna BasuORCiD,
Dr Vankateswara Ramesh,
Professor Patrick Chinnery
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Background and aims: In the absence of dietary or health-related risk factors, vitamins are often overlooked as disease-modifying treatments in acute neurology. Their role is often adjuvant, accompanying specific treatments for presumed immune-mediated, vascular or infectious pathology where there is diagnostic uncertainty. Methods: Critical case reviewResults: A 14-year-old boy with normal developmental history presented with subacute cerebellar ataxia and behavioural change. Routine blood, urine, cerebrospinal fluid and toxicological examinations were normal. Brain MRI demonstrated oedematous lesions with central necrosis affecting the basal ganglia, medial thalami, red nuclei, and cortical as well as juxtacortical regions. Antimicrobials were given until infective causes were excluded. A diagnosis of acute necrotising encephalitis was considered and pulsed methylprednisolone commenced. Supportive treatment included a 7-day course of low dose oral vitamins in case of a mitochondrial encephalopathy. His motor symptoms resolved within 2 weeks, prompting discharge with a tapering course of prednisolone. He returned to school, requiring only methylphenidate for attention-deficit hyperactivity disorder. Three years later he suffered a life-threatening relapse with dystonia, seizures, cortical symptoms, and return of the characteristic MRI appearances. This progressed despite methylprednisolone. Improvement followed within hours of parenteral thiamine initiation, with resolution of most clinical and acute radiological abnormalities within 6 weeks. He has been found to carry compound heterozygous mutations of SLC19A3 and remains well, continuing modest doses of thiamine and biotin. Conclusion: Vitamin-responsive neurological diseases can present dramatically and in the absence of risk factors for deficiency. The consideration and timely recognition of their characteristic phenotypes can facilitate safe and simple disease-modifying treatments.
Author(s): Lewis-Smith D, Basu A, Hussain R, Patil B, Ramesh V, Chinnery PF
Publication type: Conference Proceedings (inc. Abstract)
Publication status: Published
Conference Name: 2nd Congress of the European Academy of Neurology
Year of Conference: 2016
Online publication date: 23/06/2016
Acceptance date: 21/03/2016
Series Title: European Journal of Neurology