Intractable Vomiting in an 11-Month-Old Boy With Trisomy 21: A Case Report on Abnormal Calcium/Calcinosis/Creatinine in Down Syndrome

Abstract

Abnormal calcium/calcinosis/creatinine in Down syndrome (ABCD syndrome) is a very rare condition with no clear etiology. In this paper, we describe our clinical encounter with this disease. We report the case of an 11-month-old male infant with Down syndrome (DS) who presented to the hospital with intractable vomiting and decreased oral intake and urine output. The evaluation revealed an acute kidney injury (AKI) and hypercalcemia. Although his AKI improved with intravenous hydration, his hypercalcemia persisted. Extensive studies were notable for an elevated urinary excretion of calcium and bilateral medullary nephrocalcinosis seen on renal ultrasound (US). As a result, he was diagnosed with ABCD syndrome. Dietary calcium restriction was implemented. During his follow-up visit with a pediatric endocrinologist, his serum calcium was found to be normalized. To our knowledge, this is only the seventh case report on ABCD syndrome in the literature.