Fifteen-minute consultation: approach to a child with congenital insensitivity to pain

• Main Authors: Anuar, Muhamad Azamin, Whitehouse, Emily Rose, Varma, Uma, McCullagh, Gary, Hughes, Imelda
• Format: Article
• Language: English
• Published: BMJ Publishing Group 2024
• Subjects: RJ Pediatrics; RJ365 Pain in children; RJ370 Disease of children
• Online Access: http://irep.iium.edu.my/112026/7/112026_Fifteen-minute%20consultation%20approach%20to%20a%20child.pdf; http://irep.iium.edu.my/112026/; https://ep.bmj.com/content/early/2024/04/30/archdischild-2023-326479.full; https://doi.org/10.1136/archdischild-2023-326479

The hereditary sensory and autonomic neuropathies (HSANs) are a group of rare genetic disorders characterised by variable phenotypic expression affecting both sensory and autonomic dysfunction. Diagnosing these conditions can be a challenge as the presenting symptoms can be diverse and may overlap. This often leads to a delay in referral and diagnosis. Pain is often used by clinicians as a marker for systemic diseases. The key feature of HSAN conditions is the absence of pain perception and its consequences such as unexplained injuries. When a child presents with an unexplained injury, a diagnosis of non-accidental injuries must be considered, but rarely HSAN could be a possibility. The diagnosis of HSANs in children is both important and rare. This article aims to discuss an approach to the diagnosis and management of HSANs