POSSIBLE PITFALLS IN DIAGNOSING CELIAC DISEASE

Key words: Celiac disease, Cytochrome c-oxidase, Duodenal biopsy, Mitochondrial encephaloneuromyopathy

A 12-year old child with failure-to-thrive had diagnosis of celiac disease at the age of 20 months, in spite of negative serologic markers and only slight histological modifications at the duodenal biopsy. After 10 years of gluten free diet his weight and height were ≤ 2 SD than the normal values for the age. He had also neurodevelopmental delay, dyslexia and visual disturbances. Markers of HLA susceptibility for celiac disease were absent. Investigations showed growth hormone deficiency and neuromuscular impairment due to mitochondrial encephaloneuromyopathy (cytochrome c-oxidase deficiency). Possible pitfalls in diagnosing celiac disease are discussed. Clinical history, serology, histology and gluten-dependency must be taken in account especially in doubtful clinical situations.