Febbraio 2009 - Volume XXVIII - numero 2
Pagine elettroniche ; Caso Contributivo
Scuola di Specializzazione in Pediatria, 1Clinica Pediatrica Università di Verona
Indirizzo per corrispondenza: enrico.valletta@azosp.vr.it
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.
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Pagine elettroniche ; Caso Contributivo
Pediatri di famiglia, Napoli
Indirizzo per corrispondenza: tom.montini@libero.it
Key words: Klippel-Trenaunay syndrome, Capillary angioma, Hemihypertrophy
We describe a case of Klippel-Trenaunay syndrome (KTS) diagnosed to a one-year female child followed by our ambulatory of general paediatrics. We diagnosed the KTS on the basis of a (pseudo) hemihypertrophy of the legs and of a large capillary angioma of the whole right leg. We also debate on the difficulty to find clear guidelines for the diagnosis and follow-up of KTS in the literature.
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