ESPE Abstracts (2022) 95 P2-39

1San Raffaele Hospital, Milan, Italy; 2Family Pediatrician, Milan, Italy

A 5-year-old Moroccan patient comes to our attention due to impaired gait with pain in the lower limbs, easy fatigue and poor gain in weight and stature. In the previous months he had some episodes of abdominal pain. During our first physical examination he was pale, with diffuse muscular hypotrophy, uncertain gait with an enlarged base, dubious hypertrophy of the calves and Gowers' sign. No varus / valgus of the lower limbs. Symmetrical and normo-evocable osteotendinous reflexes. No stenic deficits. After the physical examination we hypothesized gastroenterological (celiac disease, gastroenteritis), orthopedic (transient hip synovitis, epiphysiolysis, Perthes disease) and neurological problems (Duchenne muscular dystrophy, polyneuropathy). First-level blood tests were performed, with the evidence of an iron-deficiency microcytic anemia (Hb 9.4 g / dL), associated with reduced levels of folate and vitamin B12. Normal CPK and transaminases. Serum calcium values below the normal range (7.4 mg/dl, normal values 8.8-10.8), elevated PTH (279 pg/ml, n.v. 15-65), phosphorus at lower limits (3.3 mg/dl, v.n. 2.85-5.25) and hypovitaminosis D (25OH 11.7 ng/ml, n.v. 20-68) as seen in vitamin D deficiency rickets. Radiological images of the lower limbs confirmed the diagnosis of rickets, highlighting irregularities in the distal metaphyseal-epiphyseal area of the femurs and tibiae, with modest cup-like enlargement, also associated with reduced bone mineralization. For diagnostic completion, he was screened for celiac disease: we found a frankly pathological result with positivity of anti-transglutaminase (21770 U.A.) and anti-endomysium antibodies. All the symptoms presented by the patient (impaired gait, poor gain in weight and stature, paleness, fatigue) could therefore be explained by an intestinal malabsorption in celiac disease, with consequent vitamin D deficiency rickets. The therapy consisted of a gluten-free diet and a supplementation of calcium (2000 mg/day), cholecalciferol (4000 U/day), iron and folate. After three months of therapy we observed a complete remission of the clinical and laboratory findings, with the patient successfully showing a physiological gait.

Volume 95

60th Annual ESPE (ESPE 2022)

Rome, Italy
15 Sep 2022 - 17 Sep 2022

European Society for Paediatric Endocrinology 

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