Mahmood Shaukat ( Department of Paediatric Surgery, Ramzan Ali Syed Hospital, Lahore )
Hafiz Mahmood Ahmad ( Department of Paediatric Surgery, King Edward Medical College, Mayo Hospital, Lahore, )
Muhammad Umar Shafiq ( Department of Paediatric Medicine, Civil Hospital, Bahawalpur, Pakistan. )
Neonatal severe hyperparathyroidism (NSHPT) is a rare genetic disorder that presents within the first six months of life. We present the case report of a male child who presented to us in the first month of his life with symptoms of lethargy, constipation, and reluctance to feed. One sibling of the child had died earlier with similar symptoms in the first six months of life. Upon physical examination, the child was lethargic, dehydrated, had bradycardia with hyperreflexia. Serum electrolyte analysis showed hypercalcaemia and hypophosphataemia. Further workup revealed elevated serum parathyroid hormone levels and Calcium sensing receptor (CaSR) gene mutation in autosomal recessive patterns. The father was discovered to be heterozygous for the same mutation but is asymptomatic. Diagnosis of neonatal severe hyperparathyroidism was made and the child was managed medically with intravenous fluids, Furosemide, Pamidronate, and Cinacalcet. On inconsistent response to medical therapy, he underwent total parathyroidectomy with auto transplantation of half of the left lower parathyroid gland. Postoperatively, the child is being managed on oral calcium and Alpha Calcidiol supplementation and is doing well.
Keywords: Neonatal severe Hyperparathyroidism, Serum Calcium, Parathyroid Hormone level, Parathyroidectomy.
Neonatal severe hyperparathyroidism is a rare genetic disorder which presents within first 6 months of life usually with symptoms of lethargy, hypotonia, reluctance to feed, polyuria, gastrointestinal disturbances, osteopenia, poor feeding and respiratory distress.1 It can be fatal if not diagnosed and managed timely. We present case report of a male child who presented with neonatal hyperparathyroidism and discuss our approach to diagnosis and treatment. Informed written consent was taken from patients' father for publication of case report.
A male child born of consanguineous marriage presented to the paediatrician at the age of 16 days with the complaint of lethargy, constipation, and reluctance to feed. He was born via LSCS due to placenta previa at 35th week of gestation. At birth, his weight was 2kg. He is the third born of the family. He remained in the well-baby nursery for two days after birth and was discharged uneventfully. He was breastfed and got BCG vaccination on the second day of life. He remained well for the first 15 days when he developed symptoms of lethargy, constipation, and reluctance to feed. He presented to a local paediatrician with these symptoms, who suspected meningitis and got his lumbar puncture done. Cerebrospinal fluid (CSF) examination was noted to be normal. The child was then referred to one of the authors at Surgicare Complex Bahawalpur on January 19, 2021.
The firstborn of the family was a male who died within the first six months of life due to similar complaints. The second born is a healthy female.
Upon physical examination in Bahawalpur, the child was lethargic and dehydrated. He had cold, clammy skin and was hypotonic. The child had bradycardia and hyperreflexia. His heart rate was 56/min which generated suspicion of electrolyte disturbances. The chest was bell-shaped but air entry was clear bilaterally. The abdomen was soft and non-tender. Weight at presentation was 2kg. Facial features were normal.
His serum electrolyte profile was obtained which showed hypercalcaemia, serum calcium level 22.6 mg/dl (Normal=N 9-11mg/dl), while Serum Sodium, Potassium, Chloride, and Bicarbonate levels were normal.
Further investigations included skeletal survey, serum phosphate, vitamin D, serum magnesium, serum phosphate, and parathyroid hormone levels.
A skeletal survey showed reduced bone density, metaphyseal fractures in the lower end of both femurs and upper ends of the tibia. There was crowding of upper ribs (1-5th).
Vitamin D level was 20.9ng/ml. His serum phosphate level was 2mg/dl (N:3-6.9 mg/dl). Serum magnesium level was 1.7mg/dl (N:1.7-2.7mg/dl). Urinary Calcium level was not measured. Serum Parathyroid hormone (PTH) level was 1468.5pg/ml (N:15-65pg/ml).