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Kabuki Syndrome and Crohn Disease in a Child with Familial Hypocalciuric Hypercalcemia

ABSTRACT Background: Familial hypocalciuric hypercalcemia (FHH) results from a mutation of the calcium sensing receptor (CASR) gene and typically presents as asymptomatic hypercalcemia with inappropriately low urinary calcium excretion and normal or mildly elevated levels of parathyroid hormone. Objective: To describe a case of FHH associated with Kabuki syndrome and Crohn disease. Method: Genomic DNA was screened for CASR mutations and a retrospective chart review was performed. Results: Heterozygosity was observed in exon 3, which encodes a portion of the extra-cellular domain. Sequencing revealed a n.476T>G nucleotide transversion, predicting a non-conservative substitution of arginine for leucine at codon 159 (p.L159R). Conclusion: An association between Kabuki syndrome and autoimmune disease has been described in the literature, which may explain the connection between Kabuki syndrome and Crohn disease. However, it remains unclear if there is a link between FHH, Kabuki syndrome and Crohn disease in this case.