Background: Nutritional rickets (NR), due to poor dietary calcium intake or vitamin D deficiency is still the most common form of growing bone disease despite the efforts of health care providers to reduce its incidence. Clinical history, physical examination and laboratory evaluation are mainstay of diagnosis.
Aim: We report a case of NR where the radiological report was misleading causing significant parental anxiety and delay in diagnosis.
Case: Male infant of Afro-Caribbean origin, presented at age 5 months with excessive crying, bulging soft spot in the head and increase in head circumference. He was exclusively breast fed. Born at term gestation, his antenatal scans showed congenital talipes, which were corrected at 2 months of age. Examination and observation was normal with no increase in head circumference over 3 weeks follow up. MRI head was done to rule out any intracranial pathology and reported as sclerotic skull bones with suspicion of osteopetrosis. CT head showed diffuse bone thickening and evidence of craniosynostosis. However, a skeletal survey revealed markedly osteopaenic bones with rachitic changes. Concurrent biochemical picture confirmed the diagnosis of Vitamin D deficient rickets (table 1). Mother was also vitamin D deficient and treatment was commenced. Repeat skull X-ray after a month of treatment showed no clear evidence of craniosynostosis and improving osteopaenia. Close monitoring of the childs head growth will continue.
|Age at testing (In months)||Vit D (24167 nmo l/l)||Alkaline phosphatase (100400 U/l)||Corrected calcium (2.252.75 mmol/l)||PTH (1472 ng/l)||Serum Phosphate (1.452.16 mmol/l)||Hb (1014 g/dl)|
|5 at diagnosis||<12||4,016||1.96||765||0.64||8.2|
|7 (after 6 week treatment with vit D)||85||1079||2.5||29||1.86||11|
Conclusion: This case illustrates the diagnostic dilemma caused by radiological misinterpretation of MRI head in a florid case of rickets. Early sutural fusion has been reported in hypophosphataemic rickets but we have only been able to find one other case linked to Vitamin D deficiency in the literature. It is important to rule out rickets in children presenting with craniosynostosis.
23 - 25 Nov 2016
British Society for Paediatric Endocrinology and Diabetes