Infant with Thiamine Deficiency from a Rare Cause

Abstract

Introduction Infants who present with lactic acidosis and lethargy undergo evaluation for sepsis, dehydration, hypoglycemia, and cardiac causes. If lactic acidosis persists, mitochondrial disorders and other inborn errors of metabolism should be considered. The work-up for metabolic diseases is extensive, but a detailed history can guide us through the maze of metabolic defects. Case Report We present a case of a 9-week-old girl, ex-37-week gestation, admitted to the pediatric intensive care unit with lethargy and symptoms of an upper respiratory tract infection. Physical examination was notable for decreased responsiveness, …