HDR syndrome: a case report

ABSTRACT

The triad of hypoparathyroidism, sensori neural deafness, and variable renal system defects is known as HDR syndrome. It is an autosomal dominant inherited disorder. The clinical features of early onset deafness are the most completely penetrate part of this syndrome, but that of the hypoparathyroidism can present at any age. Here we report a 13-year-old Jordanian girl, presented with history of recurrent generalized tonic-clonic convulsions since two months, further history revealed bilateral hearing loss since birth. On examination, she has normal growth parameters, normal facial appearance. Her laboratory data were consistent with hypoparathyroidism. Radiological evaluations showed absent right kidney and basal ganglia's calcifications. Diagnosis of HDR syndrome was made. In conclusion, congenital sensori neural deafness can be a guide for early diagnosis of HDR syndrome in order to start early management and prevention of central nervous system and renal system complications