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Case Reports

Abstract

We present the case of a 2-year-old female with past medical history of Williams syndrome who was admitted to the hospital with end-stage renal disease and fever secondary to rhinovirus. The child was found to have hypercalcemia, a classic feature of Williams syndrome, with nephrocalcinosis contributing to her end-stage renal disease. During the admission, she developed erythematous patches overlying firm, mobile subcutaneous nodules of the distal legs and forearms that were tender to touch. Clinically, the lesions mimicked erythema nodosum. Dermatology was consulted after two days of progressive eruption of the nodules, and a punch biopsy was performed. Histopathologic examination revealed a lobular neutrophilic panniculitis with saponification, consistent with pancreatic panniculitis. Subsequent laboratory workup revealed marked lipase elevation at 1,136 U/L, despite imaging studies revealing no gross abnormality of the pancreas. While hypercalcemia has been identified as being associated with onset of acute pancreatitis in other conditions, such as in primary hyperparathyroidism, calcium carbonate ingestion, and in hypercalcemia of malignancy, this is a novel case of acute pancreatitis in a child with hypercalcemia associated with Williams syndrome. The syndrome, caused by a deletion at chromosome band 7q11.23 that involves the elastin gene, results in characteristic facial features, connective tissue abnormalities, and hypercalcemia. The mechanism of elevated calcium in Williams syndrome has not been definitively identified, and this case highlights the broad potential complications of the syndrome. This case of acute pancreatitis first discovered on skin biopsy also reminds dermatopathologists to consider pancreatic panniculitis in an uncommon population.