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Biotin-Thiamine-Responsive Basal Ganglia Disease: A Rare But Treatable Cause Of Severe Necrotising Encephalopathy

Lookup NU author(s): Dr David Lewis-Smith, Dr Vankateswara Ramesh, Professor Patrick Chinnery, Dr Anna BasuORCiD


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Objectives: In the absence of dietary or health-related risk factors, vitamins are often overlooked as definitive treatments in acute neurology. We aim to increase the awareness of biotin-thiamine-responsive basal ganglia disease amongst paediatric neurologists practising within the United Kingdom. This is a rare, potentially fatal but readily reversible condition affecting children of all ages, not previously described within the United Kingdom. Methods: A case report with video (previously presented at the 2nd Congress of the European Academy of Neurology, Copenhagen, 2016) and summary of previously published cases.Results: A 14-year-old boy of non-consanguineous white British descent, with normal neurodevelopmental 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. 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 ataxia, dystonia, seizures, cortical symptoms, and return of the characteristic MRI appearances. This progressed despite methylprednisolone. Improvement followed within hours of subsequent 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.Conclusions: Timely recognition of the striking clinical and paraclinical features of this rare disease, now shown to occur within the indigenous British population, will dramatically improve the outcomes of affected patients through simple, safe treatments.

Publication metadata

Author(s): Lewis-Smith DJ, Patil B, Ramesh V, Chinnery PF, Basu AP

Publication type: Conference Proceedings (inc. Abstract)

Publication status: Published

Conference Name: British Paediatric Neurology Association Annual Meeting

Year of Conference: 2017

Pages: 53-53

Online publication date: 16/12/2016

Acceptance date: 24/11/2016

ISSN: 0012-1622

Publisher: Wiley-Blackwell


DOI: 10.1111/dmcn.13347

Notes: Abstract no. 093

Series Title: Developmental Medicine and Child Neurology