Background: Rickets is a disease due to a reduced mineralization of the rapidly growing bones (skull, ribs, wrists, knees, ankles) with consequent accumulation of non-mineralized bone matrix, called osteoid tissue. The most frequent cause of rickets is vitamin D and/or calcium deficiency caused by reduced sun exposure, inadequate dietary intake or malabsorption (nutritional rickets).
Clinical history: R., a 1 year and 6 month-old female child of Moroccan ethnicity, comes to our observation for pallor, anserine gait and skeletal deformities. Nutritional anamnesis highlighted the intake of a predominantly milky diet with low amount of carbohydrates, meat and vegetables.
Auxological examination: weight and height at the 50th percentile for age and gender.
Physical examination: pallor, marked varism of the knees, delayed dental eruption, costal deformities, abnormalities of wrists and ankles. Blood tests showed iron deficiency anemia (Hb 10.1 g/dl, MCV 58.41 fl, ferritin levels 3 ng/ml), normocalcemia, normophosphoremia with increased urinary phosphate excretion (TmPO4/GFR 1 mmol/L), marked elevation of serum alkaline phosphatase (ALP 1250 U/L) and of bone isoenzyme of alkaline phosphatase (BAP 173.7 mg /L), and severe vitamin D deficiency (25 OH vitamin D: 4 ng/ml) resulting in secondary hyperparathyroidism (PTH 310 pg/ml). Radiographs of the wrist and left hand and lower limbs showed an enlarged cupped appearance of the distal epiphyses of the wrists, knees and ankles that had blunt and jagged metaphyseal edges with trabecular appearance and initial concavity (Thacher grade 6-7).
Diagnosis and therapy: The clinical, biochemical and radiological findings were consistent with the diagnosis of nutritional rickets associated with iron deficiency anemia. The diagnosis was supported not only by the nutritional history, but also by the genetic predisposition due to the non-Caucasian ethnicity and by the reduced vitamin D absorption due to the concomitant iron deficiency. Therefore, oral iron (3 mg/kg/day) treatment and cholecalciferol (4.000 IU/day) supplementation were started. After 6 months of follow up, normalization of biochemical parameters was observed, and after 12 months the imaging demonstrated an improvement of rickets lesions consistently with a progressive walking recovery.
Conclusion: The peculiarity of this case report lies in the coexistence of two comorbidities, rickets and anemia, both secondary to a severe nutritional deficiency in a Moroccan child whose ethnicity is a genetic predictor for nutritional rickets per se.
15 Sep 2022 - 17 Sep 2022