Clin Osteol 2020; 25(4): 213-218

Nutritional (vitamin D deficient) rickets -⁠ a neglected diagnosis? Case reportCase reports

Kutílek Štěpán¹, Rondziková Eva¹, Pečenková Kamila¹, Vracovská Martina¹, Pikner Richard², Švábková Marie Radová Eva¹, Benešová Šperlová Alžběta³, Šteinerová Martina¹, Hubatová Šárka¹

¹ Dětské oddělení, Klatovská nemocnice a. s., Klatovy

² Oddělení klinických laboratoří, pracoviště kostního metabolizmu, Klatovská nemocnice a. s., Klatovy

³ Radiodiagnostické oddělení, Klatovská nemocnice a. s., Klatovy

Nutritional (vitamin D deficient) rickets is currently considered a rare disease, due to overall vitamin D prophylaxis throughout the infantile period. However, nutritional rickets has to considered in children from families of low socio-economic status and in infants of uncooperative parents. We present a case of a two year old girl, from a family of very low socio-economic status, where uncooperative parents completely neglected vitamin D prophylaxis in the first year of life and the patient was referred because of psychomotor retardation and late onset of (waddling) gait. Biochemical assessment revealed high values of serum alkaline phosphatase activity (S-ALP, 19 µkat/L) and parathyroid hormone, wrist X-ray bore typical rachitic signs (cupping, fraying). Because of uncooperative family, the girl received "stoss" therapy of 300,000 IU ergocalciferol once monthly for 3 consecutive months, which resulted in normalization of biochemical indices and complete healing of the rickets. Nutritional rickets is not an extinct disease and should be kept in mind, especially in children with low socio-economic background, and in cases of psychomotor retardation and, especially, skeletal deformities and/or waddling gait.

Keywords: alkaline phosphatase; parathyroid hormone; psychomotor retardation; rickets; vitamin D

Received: November 30, 2020; Accepted: December 14, 2020; Published: December 11, 2020  Show citation