Kabuki syndrome and Crohn disease in a child with familial hypocalciuric hypercalcemia.

BACKGROUND: Familial hypocalciuric hypercalcemia (FHH) results from a mutation of the calcium sensing receptor (CASR) geneⁱ 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 DNAⁱ was screened for CASR mutations and a retrospective chart review was performed.

RESULTS: Heterozygosityⁱ 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 diseaseⁱ 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.