Case presentation
A 10-year-old boy, previously diagnosed with NSHPT, who underwent a total parathyroidectomy in our center on the 11th day of his life, was brought to our clinic for assessment of long-term outcomes. He was born full-term to consanguineous parents and delivered by cesarean section. He was admitted to our hospital on the 8th day of his life due to poor feeding and hypotonia and was diagnosed with NHSPT based on severe hypercalcemia (Ca=35mg/dl) and marked hyperparathyroidism (PTH=640 pmol/L).) and increased alongside with other findings consistent with NSHPT. As medical treatment (including intravenous normal saline, hydrocortisone, furosemide, calcitonin, and pamidronate) failed to stabilize serum calcium levels, the patient underwent total parathyroidectomy. The surgery was proved to be successful by a significant drop in serum calcium and PTH levels and the patient was started on calcium and vitamin D supplements a few days after surgery. Althoufh the patient’s NICU-stay was prolonged due to Klebsiella septic episodes treated with antibiotics and IVIG, he had normal calcium levels by the end of the fourth postoperative week while on calcium supplementation. . , His neonatal presentation has been described in detail elsewhere (7).
Following discharge from the hospital, the patient failed to attend follow-up visits until the age of 5 years, when he was admitted to another medical center due to new onset seizures and was started on antiepileptic medication. According to the patient’s mother, seizures recurred at the age of 7 (electroencephalography (EEG) showing multiple epileptic discharges in a normal background) and Carbamazepine was prescribed. The patient experienced another recurrence at the age of 9 and is still on Carbamazepine. Moreover, he reportedly has had learning difficulties since school age and is currently attending a special school. According to his mother, the patient has had normal serum calcium and PTH levels on occasions when laboratory investigations were performed. Unfortunately, previous laboratory data are not available. At present, he is taking no calcium/vitamin D supplements. .
At the present visit, the patient’s weight and height were 30kg (50th percentile) and 132cm (10th percentile), respectively, which is considered normal based on his age and his parents’ weight and height. Patient’s head circumference was 48cm (>2 standard deviations (SDs) below the mean for age and sex) which is consistent with microcephaly. The rest of his physical examination was insignificant. Additional investigations, including brain MRI, EEG, Wechsler Intelligence Scale for Children (WISC-IV), hand and wrist radiographs, and calcium, phosphorus and PTH serum levels, were performed.
. On EEG, multiple epileptic discharges in a normal background were observed, which is consistent with the previous EEG performed at the age of 7. Brain MRI revealed periventricular white matter volume loss with extension to the peri-rolandic region, which probably is a sequel of hypoxic-ischemic damage. Based on the results of WISC-IV, the full-scale IQ of the patient was calculated to be 54, which is consistent with mild intellectual disability. Patient’s bone age was normal for his age based on hand and wrist radiographs. Laboratory investigations revealed normal serum calcium, phosphorus, and PTH levels.