Congenital insensitivity to pain and anhidrosis and central nervous system involvement: expanding the phenotypic spectrum of a novel NTRK1 mutation

An infant, born preterm (1900 g) to non-consanguineous parents, presented with failure to thrive and global developmental delay. Perinatal history was uneventful. Developmental milestones included neck holding at 7 months, sitting with support at 10 months and currently sitting independently. She

Authors

Arvinder Wander (ORCID: https://orcid.org/0009-0002-4949-9706)
Madhu S. Gaddigoudar (ORCID: https://orcid.org/0009-0003-7174-7507)
Ramandeep Singh (ORCID: https://orcid.org/0000-0001-5775-7993)
Balachandar Vellingiri

Institutions

Central University of Punjab (IN)
All India Institute of Medical Sciences (IN)

Publication Details

Journal: BMJ Case Reports
Published: 2025-12-01
DOI: https://doi.org/10.1136/bcr-2025-269423
Primary Topic: Hereditary Neurological Disorders
Type: article
Field-Weighted Citation Impact: 0.00

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article

Congenital insensitivity to pain and anhidrosis and central nervous system involvement: expanding the phenotypic spectrum of a novel NTRK1 mutation

Arvinder Wander, Madhu S. Gaddigoudar, Ramandeep Singh, Balachandar Vellingiri

Dec 1, 2025

BMJ Case Reports

Hereditary Neurological Disorders

article

Congenital insensitivity to pain and anhidrosis and central nervous system involvement: expanding the phenotypic spectrum of a novel NTRK1 mutation

Arvinder Wander, Madhu S. Gaddigoudar, Ramandeep Singh, Balachandar Vellingiri

December 1, 2025article en

Abstract

An infant, born preterm (1900 g) to non-consanguineous parents, presented with failure to thrive and global developmental delay. Perinatal history was uneventful. Developmental milestones included neck holding at 7 months, sitting with support at 10 months and currently sitting independently. She

BMJ Case ReportsVol. 18(12)

Central University of Punjab (IN), All India Institute of Medical Sciences (IN)

Openalex Percentile: Top 56%

Hereditary Neurological Disorders

DOI Source OpenAlex

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