Journal of Pediatric Neurosciences
CASE REPORT
Year
: 2017  |  Volume : 12  |  Issue : 3  |  Page : 265--267

Thiamine responsive pyruvate dehydrogenase complex deficiency: A potentially treatable cause of Leigh's disease


Prashant Jauhari1, Naveen Sankhyan1, Sameer Vyas2, Pratibha Singhi1 
1 Department of Pediatrics, Pediatric Neurology and Neurodevelopment Unit, Postgraduate Institute of Medical Education and Research, Chandigarh, India
2 Department of Radiodiagnosis, Postgraduate Institute of Medical Education and Research, Chandigarh, India

Correspondence Address:
Pratibha Singhi
Department of Pediatrics, Pediatric Neurology and Neurodevelopment Unit, Postgraduate Institute of Medical Education and Research, Chandigarh - 160 012
India

Pyruvate dehydrogenase complex (PDHC) deficiency is a rare metabolic disorder that affects tissues with high energy demand such as the central nervous system. The clinico-radiological phenotype of Leigh's disease is one of its common presentations. We present a 9-month-old boy with rapidly progressive infantile Leigh's disease. PDHA1 gene sequencing revealed a pathological homozygous missense mutation c.131A>G or p.H44R in exon 3 consistent with PDHC deficiency. H44R is among the five mutations (H44R, R88S, G89S, R263G, and V389fs) in E1α subunit that is thiamine-responsive. The child was initiated on thiamine, riboflavin, carnitine, coenzyme Q, and sodium benzoate supplementation. Mild recovery was noted at 6 months follow up as no further episodes of encephalopathy occurred. Thereafter, the child was treated with Ketogenic diet which resulted in increased levels of activity and alertness. Despite an improving course, the child had a sudden unexpected death at the age of 21 months.


How to cite this article:
Jauhari P, Sankhyan N, Vyas S, Singhi P. Thiamine responsive pyruvate dehydrogenase complex deficiency: A potentially treatable cause of Leigh's disease.J Pediatr Neurosci 2017;12:265-267


How to cite this URL:
Jauhari P, Sankhyan N, Vyas S, Singhi P. Thiamine responsive pyruvate dehydrogenase complex deficiency: A potentially treatable cause of Leigh's disease. J Pediatr Neurosci [serial online] 2017 [cited 2021 Feb 26 ];12:265-267
Available from: https://www.pediatricneurosciences.com/article.asp?issn=1817-1745;year=2017;volume=12;issue=3;spage=265;epage=267;aulast=Jauhari;type=0