thiamine pyrophosphokinase deficiency causes a leigh disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies

Le déficit en thiamine pyrophosphokinase entraîne un phénotype de type maladie de Leigh au sein d'une fratrie : identification par séquençage de l'exome entier et stratégies de prise en charge

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ID: 237644
2014
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Abstract
We present a sibling pair with Leigh-like disease, progressive hypotonia, regression, and chronic encephalopathy. Whole exome sequencing in the younger sibling demonstrated a homozygous thiamine pyrophosphokinase (TPK) mutation. Initiation of high dose thiamine, niacin, biotin, α-lipoic acid and ketogenic diet in this child demonstrated improvement in neurologic function and re-attainment of previously lost milestones. The diagnosis of TPK deficiency was difficult due to inconsistent biochemical and diagnostic parameters, rapidity of clinical demise and would not have been made in a timely manner without the use of whole exome sequencing. Molecular diagnosis allowed for attempt at dietary modification with cofactor supplementation which resulted in an improved clinical course.
Nous présentons le cas d'une fratrie de deux enfants atteints d'un syndrome de type Leigh, d'une hypotonie progressive, d'une régression et d'une encéphalopathie chronique. Le séquençage de l'exome entier chez le cadet a mis en évidence une mutation homozygote de la thiamine pyrophosphokinase (TPK). L'instauration d'un traitement associant de fortes doses de thiamine, de niacine, de biotine et d'acide α-lipoïque à un régime cétogène chez cet enfant a permis une amélioration de la fonction neurologique ainsi que la réacquisition d'étapes du développement antérieurement perdues. Le diagnostic de déficit en TPK s'est révélé difficile en raison de paramètres biochimiques et diagnostiques inconstants et de la rapidité du déclin clinique, et n'aurait pu être posé en temps opportun sans le recours au séquençage de l'exome entier. Le diagnostic moléculaire a permis de tenter un ajustement diététique couplé à une supplémentation en cofacteurs, aboutissant à une amélioration de l'évolution clinique.
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fraser2014molecularthiamine Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors ;Jamie L. Fraser;Adeline Vanderver;Sandra Yang;Taeun Chang;Laura Cramp;Gilbert Vezina;Uta Lichter-Konecki;Kristina P. Cusmano-Ozog;Patroula Smpokou;Kimberly A. Chapman;Dina J. Zand
Journal advances in skin & wound care
Year 2014
DOI
10.1016/j.ymgmr.2013.12.007
URL
http://www.sciencedirect.com/science/article/pii/S2214426914000147
Keywords
thiamine

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