Background: Nutritional rickets is a disorder of defective chondrocyte differentiation and mineralization of the growth plate and osteoid due to vitamin D deficiency with or without low calcium intake in growing children. Maternal Vitamin D deficiency and exclusive breastfeeding without supplementation are the most frequent causes of rickets in the infancy. Vitamin D deficiency is still a problem in Sri Lanka in spite of sun shine throughout the year. We present a case series of seven infants presenting with nutritional rickets. Presentation ranged from 1 to 4 months of age. One presented with febrile seizures with a negative septic screen. Six presented with afebrile seizures in which two had been treated for status epilepticus. None of them had clinical features of rickets. Cardiac assessment was normal. Biochemistry revealed normal blood sugar, Na, Mg, renal functions and liver functions. All had hypocalcaemia with a range of corrected calcium between 0.85 mmol/L to 1.68 mmol/L. The vitamin D level ranged from 8.5 nmol/L to 38 nmol/L. All had high alkaline phosphatase, high parathyroid hormone levels indicating secondary hyperparathyroidism with radiological features of early rickets. They were term babies born to nonconsanguineous healthy parents. No perinatal complications. All were exclusively breast fed and weight gain was satisfactory. Mothers were multiparous with previously healthy children. Three were from Muslim community and others were Sinhalese. Mothers were clinically asymptomatic and had taken only Ca without vitamin D supplementations during pregnancy. They had normal bone profiles with low or insufficient vitamin D level. All of them were started with oral Ergocalciferol with Ca supplementation for three months and followed up. Mothers were given vitamin D and Ca supplementation.
Conclusion: Rickets in infancy can present only with seizures without any other clinical features. Vitamin D deficient rickets should be one of the differential diagnosis in the evaluation of an infant with seizures as this can be diagnosed and treated easily. All the pregnant mothers and the infants should be supplemented with vitamin D as recommended by the global consensus to prevent this deadly life threatening complication.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology