From Self-Mutilation to Genetic Diagnosis: A Case Report of Hereditary Sensory and Autonomic Neuropathy Type VIII Illuminating the Role of a Rare PRDM12 Mutation.
Jaishri Pagare, Ranajoy Banerjee, Nimisha Pagare et al.
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Case in brief
A 10-month-old female presented with Hereditary Sensory and Autonomic Neuropathy Type VIII, characterized by congenital insensitivity to pain, self-mutilation, and autonomic dysfunction. Genetic testing revealed a homozygous mutation in the PRDM12 gene. The patient exhibited severe oral injuries, including significant soft tissue damage to the tongue. A multidisciplinary approach was employed for her management.
What made this case unusual
The case highlights the severe oral manifestations, including extensive soft tissue injuries, which are atypical for HSAN-VIII and underscore the need for vigilant dental care.
Diagnostic / clinical pearl
Clinicians should consider HSAN-VIII in patients with congenital insensitivity to pain and associated self-mutilating behaviors, particularly when accompanied by autonomic dysfunction.
Why it matters
This case emphasizes the importance of early genetic diagnosis and a coordinated care approach to prevent complications in patients with rare neuropathies.