Journal Article

High Prevalence of Infantile Encephalitic Beriberi with Overlapping Features of Leigh's Disease

S. Narasimha Rao, Shalini Mani, Karuna Madap, M. V. Kranthi Kumar, Lalji Singh and Giriraj Ratan Chandak

in Journal of Tropical Pediatrics

Volume 54, issue 5, pages 328-332
Published in print October 2008 | ISSN: 0142-6338
Published online May 2008 | e-ISSN: 1465-3664 | DOI: http://dx.doi.org/10.1093/tropej/fmn031
High Prevalence of Infantile Encephalitic Beriberi with Overlapping Features of Leigh's Disease

Show Summary Details

Preview

Infantile encephalitic beriberi (IEBB) is a rare form of thiamine deficiency and is poorly described. A proportion of Leigh's disease (LD) patients have similar clinical picture and response to thiamine as beriberi, leading to confusion in diagnosis and management. Data on IEBB and LD is scarce and status of thiamine deficiency in India is controversial. We report several infants with life-threatening respiratory and central nervous system symptoms that overlap between IEBB and LD. Majority had low erythrocyte transketolase levels and responded dramatically to thiamine supplementation suggesting a diagnosis of IEBB. However, presence of characteristic lesions on brain imaging and residual damage in several patients on follow-up does not rule out LD completely. Our study highlights the importance of thiamine deficiency in India, especially in the breast-feds and its overlapping features with LD. Awareness of this common mode of presentation may save patients’ lives by early diagnosis and timely thiamine supplementation.

Keywords: Thiamine deficiency; nutrition—infant; infantile encephalitic beriberi; Leigh's disease; public health

Journal Article.  2435 words.  Illustrated.

Subjects: Paediatrics

Full text: subscription required

How to subscribe Recommend to my Librarian

Users without a subscription are not able to see the full content. Please, subscribe or login to access all content.