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
1   Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India
,
Varunvenkat M. Srinivasan
1   Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India
,
Kapil Jehta
1   Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India
,
Maya D. Bhat
2   Department of Neuroradiology, National Institute of Mental Health and Neurosciences, Bangalore, India
› Institutsangaben
Funding None.
Weitere Informationen

Publikationsverlauf

02. Oktober 2018

17. Mai 2019

Publikationsdatum:
11. Juli 2019 (online)

Abstract

BackgroundSLC25A19 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.

Contributions

V. R. revised and approved the manuscript for important intellectual content and guarantor of the paper. V. S. contributed to the diagnosis, management, and writing of the manuscript. K. J. conducted laboratory tests and analyzed the data. M. B. contributed to the drafting of the manuscript, supervision of the work, and revision of the manuscript.


 
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