Bilateral Striatal Necrosis with Polyneuropathy with a Novel SLC25A19 (Mitochondrial Thiamine Pyrophosphate Carrier OMIMI*606521) Mutation: Treatable Thiamine Metabolic Disorder—A Report of Two Indian Cases

Vykuntaraju K. Gowda; Varunvenkat M. Srinivasan; Kapil Jehta; Maya D. Bhat

doi:10.1055/s-0039-1693148

Neuropediatrics, Table of Contents

Neuropediatrics 2019; 50(05): 313-317
DOI: 10.1055/s-0039-1693148

Short Communication

Georg Thieme Verlag KG Stuttgart · New York

Bilateral Striatal Necrosis with Polyneuropathy with a Novel SLC25A19 (Mitochondrial Thiamine Pyrophosphate Carrier OMIMI*606521) Mutation: Treatable Thiamine Metabolic Disorder—A Report of Two Indian Cases

Vykuntaraju K. Gowda

¹Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India

,

Varunvenkat M. Srinivasan

¹Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India

,

Kapil Jehta

¹Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India

,

Maya D. Bhat

²Department of Neuroradiology, National Institute of Mental Health and Neurosciences, Bangalore, India

› Author Affiliations

Abstract

Background SLC25A19 gene mutations cause Amish congenital lethal microcephaly and bilateral striatal necrosis with polyneuropathy. We are reporting two cases of bilateral striatal necrosis with polyneuropathy due to SLC25A19 gene mutations.

Methods A 36-month-old boy and a 5-year-old girl, unrelated, presented with recurrent episodes of flaccid paralysis and encephalopathy following nonspecific febrile illness. Examination showed dystonia and absent deep tendon reflexes.

Results Nerve conduction studies showed an axonal polyneuropathy. Magnetic resonance imaging (MRI) of the brain in both cases showed signal changes in the basal ganglia. Next-generation sequencing revealed a novel homozygous missense variation c.910G>A (p.Glu304Lys) in the SLC25A19 gene in the boy and a homozygous mutation c.869T > A (p. Leu290Gln) in the SLC25A19 gene in the girl. Mutations were validated by Sanger sequencing, and carrier statuses of parents of both children were confirmed. Both children improved with thiamine supplementation.

Conclusion If any child presents with recurrent encephalopathy with flaccid paralysis, dystonia, and neuropathy, a diagnosis of bilateral striatal necrosis with polyneuropathy due to SLC25A19 mutations should be considered and thiamine should be initiated.

Keywords

India - bilateral striatal necrosis - polyneuropathy - SLC25A19 gene

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References

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