Intracranial calcification in a patient with HDR syndrome and a GATA3 mutation.

Hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome is an autosomal dominant disorder (1). We herein demonstrate the brain computed tomography (CT) findings of a 31-year-old woman with HDR syndrome caused by a GATA3 heterozygous mutation (2). Her 1-year-old son had renal cystic dysplasia. Brain CT revealed bilateral and symmetrical calcifications in the basal ganglia, subcortical white matter, thalamus and cerebellum and slight widening of the skull bones (Picture A). Abdominal CT revealed secondary right renal hypertrophy caused by left renal hypoplasia with calcification (Picture B). The cause of calcification was hypoparathyroidism which resulted from the GATA3 mutation. Brain calcification in patients with HDR syndrome was previously considered to be basal ganglia calcification (3). However, our patient showed extensive brain calcification, similar to that observed in idiopathic hypoparathyroidism (4), at the gray-white junction. The calcification mecha-