Beyond pain: early Hypotonia and growth failure in congenital insensitivity to pain with Anhidrosis.
- 1Medical and Basic Dental Sciences Unit, School of Dental Sciences, Health Campus, Universiti Sains Malaysia, Kubang Kerian, Kelantan 16150, Malaysia.
- 2Department of Family Medicine, School of Medical Sciences, Health Campus, Universiti Sains Malaysia, Kubang Kerian, Kelantan 16150, Malaysia.
- 3Klinik Kesihatan Wakaf Bharu, Jalan Puteri Saadong, Wakaf Bharu, Kelantan 16250, Malaysia.
Abstract
Congenital insensitivity to pain with anhidrosis is a rare genetic disorder caused by mutations in the neurotrophic receptor tyrosine kinase 1 gene, characterized by absent pain perception and inability to sweat. Early recognition is essential to prevent severe complications. We report a seven-month-old boy presenting with poor growth, hypotonia, and delayed motor development. Initial metabolic and neuromuscular evaluations, including nerve conduction studies and brain imaging, were normal. His growth remained at the minus three standard deviation centile. By twelve months, additional features emerged, including self-injurious behavior, lack of response to injury, and reduced sweating. A positive family history prompted genetic testing, which confirmed a pathogenic variant in the neurotrophic receptor tyrosine kinase 1 gene. This case highlights that early nonspecific features may precede classical manifestations, emphasizing the importance of clinical vigilance, family history, and early genetic testing to enable timely multidisciplinary management.
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BibTeX
@article{sabudin2026beyond,
title = {{Beyond pain: early Hypotonia and growth failure in congenital insensitivity to pain with Anhidrosis.}},
author = {Siti Nur Syakinah Md Sabudin and Nani Draman and Khairul Nazli Ramali},
journal = {Oxford medical case reports},
year = {2026},
month = oct,
doi = {10.1093/omcr/omag196},
url = {https://europepmc.org/article/MED/42928800},
note = {CC BY-NC},
}
RIS
TY - JOUR
TI - Beyond pain: early Hypotonia and growth failure in congenital insensitivity to pain with Anhidrosis.
AU - Siti Nur Syakinah Md Sabudin
AU - Nani Draman
AU - Khairul Nazli Ramali
PY - 2026
DA - 2026/10/25
JO - Oxford medical case reports
DO - 10.1093/omcr/omag196
UR - https://europepmc.org/article/MED/42928800
AB - Congenital insensitivity to pain with anhidrosis is a rare genetic disorder caused by mutations in the neurotrophic receptor tyrosine kinase 1 gene, characterized by absent pain perception and inability to sweat. Early recognition is essential to prevent severe complications. We report a seven-month-old boy presenting with poor growth, hypotonia, and delayed motor development. Initial metabolic and neuromuscular evaluations, including nerve conduction studies and brain imaging, were normal. His growth remained at the minus three standard deviation centile. By twelve months, additional features emerged, including self-injurious behavior, lack of response to injury, and reduced sweating. A positive family history prompted genetic testing, which confirmed a pathogenic variant in the neurotrophic receptor tyrosine kinase 1 gene. This case highlights that early nonspecific features may precede classical manifestations, emphasizing the importance of clinical vigilance, family history, and early genetic testing to enable timely multidisciplinary management.
SN - 2053-8855
ER -