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.