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Case Reports: Rare disease
Rare cause of persistent hypocalcaemia in infancy due to PTH gene mutation
  1. Savita Khadse1,
  2. Vrushali Satish Takalikar1,
  3. Radha Ghildiyal1 and
  4. Nikhil Shah1,2
  1. 1Pediatrics, Lokmanya Tilak Municipal General Hospital and Lokmanya Tilak Municipal Medical College, Mumbai, Maharashtra, India
  2. 2Division of Pediatric Endocrinology, Department of Pediatrics, Surya Children's Hospital, Chembur, Mumbai, Maharashtra, India
  1. Correspondence to Dr Nikhil Shah; nikhilshah1507{at}gmail.com

Abstract

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.

  • Endocrine system
  • Paediatrics (drugs and medicines)
  • Calcium and bone
  • Genetics
  • Congenital disorders

https://doi.org/10.1136/bcr-2023-256358

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    Footnotes

    • Contributors The following authors were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms, and critical revision for important intellectual content: SK, VST and NS. The following author gave final approval of the manuscript: RG.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.