A Rare Case of Hereditary Sensory and Autonomic Neuropathy Type 4 in a 3-Year-Old: Clinical and Genetic Findings

Hereditary sensory and autonomic neuropathy (HSAN) is a diverse collection of illnesses that impact sensory and autonomic neurons. HSAN Type 4 (HSAN-4), or congenital insensitivity to pain with anhidrosis (CIPA), is an uncommon autosomal recessive disorder marked by the lack of pain perception, self-injurious behaviour, and anhidrosis, resulting in repeated febrile episodes. Here, we report a case of a 3-year-old Afghan-born male with chronic non-healing wounds and recurrent febrile episodes due to anhidrosis. Genetic testing confirmed a homozygous mutation in the neurotrophic tyrosine kinase receptor-1 gene, supporting the diagnosis of HSAN-4. This case underscores the importance of early genetic diagnosis, highlights key clinical and therapeutic challenges in managing HSAN-4, and emphasizes the need for multidisciplinary approaches to improve patient outcomes.