ABSTRACT
Rickets secondary to celiac disease is rarely reported in children. We report a new paediatric observation. A 4-year-old girl presented for pallor associated with genu valgum evolving since the age of 3 years. She had experienced intermittent diarrhea since the age of 2 years. Physical examination revealed signs of rickets. Phosphocalcic assessment was disturbed with hypocalcaemia, hyperparathyroidism, low urinary calcium level and elevated level of serum total alkaline phosphatase. Radiography revealed metaphysical epiphysis abnormalities. The result of antibody screening for celiac disease [anti-gliadin, antiendyomysial and antitissue transglutaminase antibodies] was highly positive. Histological examination of duodenal biopsy showed an atrophy of the intestinal mucous membrane suggestive of celiac disease. Treatment with a gluten-free diety yielded remarkable improvement. Celiac disease should be considered in children with rickets, especially because intestinal symptoms may be mild
ABSTRACT
Thiamine-responsive megaloblastic anemia [TRMA] is a rare autosomal recessive disorder including megaloblastic anemia, thrombocytopaenia, diabetes mellitus and progressive sensorineural deafness. We report cases of two infants, aged respectively four and five months, hospitalized for diabetic-acido-ketosis requiring insulin therapy. Laboratory tests revealed megaloblasic anemia, thrombocytopenia and normal thiamine-levels. Neurosensorial investigations showed bilateral deafness and ophthalmic involvements. Treatment with oral thiamine normalized hematological parameters and ameliorated diabetes