[Congenital insensitivity to pain with anhidrosis: A case report and literature review]

Area of Science:

• Genetics
• Pediatrics
• Neurology

Background:

• Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder.
• CIPA is characterized by congenital inability to perceive pain, anhidrosis (lack of sweating), and often self-mutilating behaviors.
• Genetic mutations in the neurotrophic tyrosine kinase receptor type 1 (NTRK1) gene are a known cause of CIPA.

Observation:

• A case report of an infant diagnosed with CIPA presenting with painless sensations, absence of sweating, and recurrent fevers.
• Molecular genetic analysis was performed on the infant and parents.
• Sanger sequencing confirmed compound heterozygous mutations in the NTRK1 gene.

Findings:

• The infant carried compound heterozygous mutations in NTRK1: c.36G>A (novel) and c.851-33T>A (previously reported).
• The c.36G>A mutation, inherited from the father, results in a premature stop codon.
• The c.851-33T>A mutation, inherited from the mother, is a known pathogenic variant.
• The novel c.36G>A mutation was classified as pathogenic according to ACMG guidelines.

Implications:

• This study highlights the importance of genetic testing in diagnosing CIPA.
• The identification of a novel pathogenic NTRK1 mutation expands the known mutation spectrum for CIPA.
• Understanding the genetic basis of CIPA is crucial for diagnosis, genetic counseling, and potential therapeutic strategies.