Seizure, deafness and renal agenesis: A rare case of barakat syndrome
A 40-year-old man with status epilepticus, residing in Kolkata, was admitted to our hospital. Two years before his admission, he had experienced the first episode of generalized seizure, for which he had been receiving sodium valproate. He had been experiencing recurrent episodes of generalized tonic clonic seizures for 2 days before his admission despite the continuation of sodium valproate in regular doses. He had a history of progressive hearing loss for the last 2 years and perioral paresthesia for the last 2 months. He did not have a family history of similar illness, head trauma in the past, or fever. Neuroimaging or electroencephalography (EEG) was not performed previously. His vital parameters were within the normal range, except that he had tachycardia. Neurological examination showed depression of deep tendon reflexes in both upper and lower extremities. He exhibited no neurological signs, except for Chvostek's and Trousseau's signs.\nNon-contrast computed tomography (CT) of the brain showed extensive intracranial calcification involving the basal ganglia, cerebellum, and cerebral cortex on both the right and left sides []. Electrocardiography during the immediate postictal phase showed a prolonged QT interval. The results of routine blood examination were as follows: hemoglobin, 14.7 gm/ dL; (14-16 gm/dL) erythrocyte sedimentation rate, 20 mm during the first hour; <5 mm 1st hour random blood glucose, 142 mg/dL; albumin, 4.5 g/ dL; (3.5-5.5 gm/ dL) urea, 26.0 mg/dL (normal range, 10–20 mg/dL); creatinine, 2.2 mg/ dL (normal range, 0.6–1.2 mg/dL, estimated glomerular filtration rate - eGFR ~32 ml/min)); sodium, 146 mmol/dL (normal range, 137–145 mg/dL); potassium, 3.6 mmol/ dL (normal range, 3.5–5.5 mg/dL); calcium, 3.8 mg/ dL (normal range, 8.8–10.6 mg/ dL); phosphorus, 9.78 mg/dL (normal range, 2.7–4.5 mg/dL); and magnesium, 0.7 meq/L (normal range, 1.3–2.5 meq/L). Hormonal assay showed that the level of 1,25-dihydroxyvitamin D3 was 10.9 pg/mL (normal range, 19.6–54.3 pg/mL); electrochemiluminescence immunoassay (ECLIA) showed that the serum intact parathyroid hormone (PTH) level was 1.44 pg/mL (normal range, 15–65 pg/mL). The patient did not have any history of neck surgery or radiation exposure that could have led to hypoparathyroidism.\nPure tone audiometry (PTA) showed bilateral moderate-to-severe hearing loss that was more severe at the higher end of the frequency spectrum [Figure and ]. Ultrasonography showed the absence of renal shadow on the left kidney and an increased cortical echogenicity of 8.4 cm in the right kidney []. Because of the simultaneous occurrence of hypoparathyroidism, deafness, and renal agenesis, the patient was diagnosed with HDR syndrome. However, chromosomal analysis with trypsin G-banding yielded normal results.\nThe patient was administered intravenous phenytoin, levetiracetam, and calcium gluconate. After the seizures were controlled, he was administered oral phenytoin, levetiracetam, calcium carbonate, and alfacalcidol. He was discharged on the 10th day and is being followed up.