Journal Article

Rare cause of persistent hypocalcaemia in infancy due to PTH gene mutation

Shah, Nikhil, Takalikar, Vrushali Satish, Ghildiyal, Radha, Khadse, Savita

2023

Overview

Hypocalcaemia is a frequently encountered electrolyte abnormality in neonates and it is mostly transient. However, persistent hypocalcaemia can point towards an endocrine abnormality like hypoparathyroidism, which is usually due to genetic disorders like DiGeorge and Kearns Sayre syndrome or due to mutations of genes like GCM2, CaSR and PTH. Our patient was a female child, who presented with hypocalcaemic convulsions in the neonatal period. On laboratory assessment, serum phosphate levels were noted to be high along with inappropriately low parathyroid hormone (PTH) levels. The child was diagnosed to have hypoparathyroidism and was started on oral calcium and 1,25-dihydroxycholecalciferol supplements to which she responded well. However, the child was lost to follow-up and was readmitted with hypocalcaemic convulsions in infancy. Clinical exome analysis done was diagnostic of homozygous PTH gene mutation. This case demonstrates a rare form of congenital isolated hypoparathyroidism with no other syndromic associations.

• Publisher: BMJ Publishing Group LTD,BMJ Publishing Group
• Subject: Age groups / Calcium, Dietary / Case reports / Case Reports: Rare disease / Child / Children & youth / Congenital diseases / Creatinine / Dietary Supplements / Electrolytes / Endocrine system / Etiology / Families & family life / Female / Genes / Humans / Hypocalcemia / Hypocalcemia - genetics / Hypoparathyroidism - complications / Hypoparathyroidism - diagnosis / Hypoparathyroidism - genetics / Infant / Infant, Newborn / Medical screening / Mutation / Patients / Pediatrics / Phosphates / Vitamin D / Vitamin deficiency