SUN-522 Hypoparathyroidism: When to Suspect Barakat Syndrome: A Case Report

Abstract

Background There are several causes of hypoparathyroidism among the least common are the genetic causes. Barakat syndrome also known as HDR syndrome is a rare genetic disorder characterized by the triad of hypoparathyroidism “H,” neurosensorial deafness “D,” and renal disease “R.” This is caused by deletions in chromosome 10p14 or mutations in the GATA3 gene. GATA3 is a transcription factor that is involved in the embryonic development of the parathyroid glands, kidneys, inner ears, thymus, and central nervous system. Other associations have been describe such as congenital heart disease, facial abnormalities, cerebral infarctions, retinitis pigmentosa, basal ganglia calcifications, severe cognitive disability, and autism.(1) Clinical Case A 52-year-old man was admitted to our hospital, he has a history of bilateral neurosensorial deafness, detected five years ago. He referred muscle spasms, paresthesias since two years ago, and a convulsive episode cause by severe hypocalcemia. The patient has no history of neck surgery or radiation exposure that could have led to hypoparathyroidism. Laboratories showed low serum calcium and low parathyroid hormone: Calcium 5.9 mg/dl (8.5-10.5), PTH 7.4pg/ml (15-65), phosphorus 5.2 mg/dl (2.5-4.9) and creatinine 1.03 mg/dl, magnesium 2.02 mg/dl 25-Hydroxycholecalciferol(25-OH-D3) 31.75ng/ml (50-70ng/ml), TSH 3.4 uUI/ml (0.27 - 4.20). At the physical exam he had micrognathia, cleft palate and narrow nose root. Because he exhibited both neurosensorial deafness and hypoparathyroidism, HDR syndrome was suspected, we search for other abnormalities. Ultrasound (US) was performed were we find left renal agenesis, which was confirmed by computed tomography. Cerebral magnetic resonance shown bilateral and symmetric calcifications in putamen, caudate nucleus and thalamus. After treatment with calcium and vitamin D has not presented a new episode of severe hypocalcemia. Conclusions To our knowledge, this is the first case of HDR syndrome reported in Peru, with typical features of the syndrome. It is important to search renal malformations in patients with hypoparathyroidism because we could be facing HDR syndrome. Our patient fulfills diagnostic criteria but requires genetic study for confirmation which is not performed in our country. The early recognition of the HDR syndrome is crucial, not only for genetic counselling but also to offer a more precise prognosis and elective therapy for prevention of hypocalcemic seizures, and avoid hyperphosphatemia complications. We hope that this case will contribute to further understanding and studies of HDR-associated GATA3 mutations. Reference 1.Barakat syndrome revisited. Amin J. Barakat. Am J Med Genet. 2018;1-8