Hereditary Sensory and Autonomic Neuropathy Type II in a Female Child with Multiple Orthopaedic Ailments: Diagnosis and Operative Management.
case_report · Level V
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- Record sourced from PubMed, PMID 35928661.
- Also identified by DOI 10.1007/s43465-022-00671-y and PMC identifier 9283600.
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Abstract
Hereditary Sensory and Autonomic Neuropathy (HSAN) Type II is an autosomal recessive genetic disease which presents predominantly with sensory neuropathy and neuropathic ulcers. HSAN Type II is a rare disease, and in the few cases that have been reported, the focus has been on identifying genetic markers of the disease. Orthopaedic conditions may be a major presentation of the disease, and the prevention of superficial trauma and foot care is the only definitive management.