NEDRIHF syndrome or PURA syndrome : A rare cause of central hypotonia

Swati Richa; Aradhana Dwivedi; Subhash Chandra Shaw; Daljit Singh

doi:10.1016/j.mjafi.2023.08.009

NEDRIHF syndrome or PURA syndrome : A rare cause of central hypotonia

Med J Armed Forces India. 2024 Dec;80(Suppl 1):S325-S328. doi: 10.1016/j.mjafi.2023.08.009. Epub 2023 Oct 3.

Authors

Swati Richa¹, Aradhana Dwivedi², Subhash Chandra Shaw³, Daljit Singh⁴

Affiliations

¹ Resident (Pediatrics), Army Hospital (Research & Referral), New Delhi, India.
² Associate Professor (Pediatrics), Army Hospital (Research & Referral), New Delhi, India.
³ Professor (Pediatrics), Army Hospital (Research & Referral), New Delhi, India.
⁴ DGAFMS, O/o DGAFMS, Ministry of Defence, A Block, Africa Avenue, New Delhi, India.

PMID: 39734905
PMCID: PMC11670646 (available on 2025-12-01)
DOI: 10.1016/j.mjafi.2023.08.009

Abstract

Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (NEDRIHF) is a very rarely reported disease. The disease is due to microdeletions in the PURA gene on chromosome 5q31. It is one of the rare causes of central hypotonia in neonates causing parental concern and anxiety. We report one such rarely diagnosed case of NEDRIHF-PURA (purine-richelement-binding protein A) syndrome.

Keywords: Central hypotonia; NEDRIHF; NEDRIHF-PURA syndrome; PURA syndrome; Purine-rich element-binding protein A.

Publication types

Case Reports