Arch Dis Child Educ Pract Ed. 2024 Apr 30:edpract-2023-326479. doi: 10.1136/archdischild-2023-326479. Online ahead of print.
ABSTRACT
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.
PMID:38688704 | DOI:10.1136/archdischild-2023-326479
