ESPE Abstracts

Introduction: Barakat Syndrome (HDR Syndrome) components are hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R) caused by an autosomal dominant inheritance, being mostly associated with deletions in chromosome 10p14 or mutations in GATA3 gene.

Case Report: An 11 years old female, was born to non-consanguineous parents. She came to an emergency department complaining of the occurrence of one attack of tonic convulsion with loss of consciousness. Physical examination on admission revealed positive spasm of the feet and hands, she wears hearing aids, Laboratory assessment revealed low total serum calcium (5.2 mg/dl, reference value (RV): 8.8 to 10.8mg/dl), low parathyroid hormone (PTH) concentration (9.12pg/ml, RV: 9 to 52pg/ml), high serum phosphorus (10 mg/dl, RV: 4-7 mg/dl), Magnesium (2.1 mg/dl, RV 1.7 to 2.7), Alkaline phosphatase (385 U/L, RV 46-116). The abdominal ultrasound reported a simple cyst with a thin wall and clear content in mid zone diffuse increase in cortical echogenicity of the kidneys. The audiogram revealed bilateral severe sensorineural hearing impairment. MRI revealed absent basal ganglia’s calcification. Treatment was initiated with calcitriol and calcium carbonate supplementation.

Conclusion: The combination of hypoparathyroidism congenital and sensorineural deafness and in pointed to the diagnosis of HDR syndrome .