Hypoparathyroidism, Deafness and Renal Disease: Berakat Syndrome

Abstract

Berakat Syndrome is a combination of hypoparathyroidism, sensorineural deafness, and renal disease which is inherited as autosomal dominant. It is an extremely rare congenital disorder, also known asHDR syndrome �. The exact prevalence of this disorder is not known but is very rare, with only about a dozen cases reported in the literature.We report a case of 28 year-old single lady from Myanmar who presented generalized oedema due to nephrotic-nephritic syndrome. Further history revealed bilateral hearing loss since birth. On examination, she was short, obese with round face and short 4 th and 5 th metacarpals. Tuning fork tests as well as audiogram confirmed sensorineural deafness of both side, more prominent on left. Her laboratory data were consistent with hypoparathyroidism. She was diagnosed to have HDR or Berakat syndrome based on her clinical and laboratory data. In conclusion, we need to be aware of rare inherited conditions in a patient with abnormal physical and laboratory findings even though their initial presentation was simple with nephrotic- nephritis.