Dula Nuwanthi Alwis¹, Tharanga Mannapperuma¹, Nimanthi Rathnayake¹, Miyuru Manawadu¹, Ayodhya Chandrasir², Ruwan Jayasinghe³, Akalanka Jayasinghe⁴, Sinnaraja Krishnapradeep⁵
1- Teaching Hospital, Peradeniya, Sri Lanka
2- Department of Oral and Maxillofacial Surgery, University of Peradeniya, Sri Lanka
3- Department of Oral Medicine and Periodontology, University of Peradeniya, Sri Lanka
4- Paediatric Orthopedic Unit, Sirimavo Bandaranaike Specialised Children's Hospital, Sri Lanka
5- Department of Paediatrics, Faculty of Medicine, University of Peradeniya, Sri Lanka
Abstract Body
Introduction: Hereditary sensory and autonomic neuropathies (HSAN) are a heterogeneous group of disorders characterized by impaired pain perception and autonomic dysfunction, predisposing affected individuals to recurrent injuries, infections, fractures, and self-mutilation. Due to their rarity diagnosis is often delayed. We report a child with recurrent osteomyelitis and pain insensitivity in whom HSAN type V was suspected.
Case presentation: A 3-year-11-month-old boy , born to consanguineous parents, presented with painless swelling of the left leg without fever and was found to have a left tibial abscess. Facial asymmetry noted at presentation was later attributed to mandibular osteomyelitis. He had a history of recurrent osteomyelitis, cellulitis, and soft-tissue abscesses, with selfamputation of a toe and self-avulsion of teeth. There was no history of recurrent sinopulmonary infections. He showed no distress during venepuncture and had unusually high tolerance tospicy food, with no history of sweating abnormalities or unexplained temperature instability . Emotional tearing was preserved. Developmental assessment revealed global developmental delay , mainly affecting gross motor and speech domains. Ophthalmological evaluationdemonstrated corneal ulceration. Nerve conduction studies showed normal nerve conduction velocities; however, there was no pain response to maximum painful electrical stimulation, confirming impaired pain perception.
Conclusion: The clinical features and investigations are highly suggestive of HSAN type V . Although genetic confirmation is ideal, access remains limited in resource-constrained settings. Therefore, HSAN should be considered in children presenting with recurrent unexplained injuries, osteomyelitis, and self-mutilation in the absence of pain perception. Early recognition is essential to facilitate appropriate management and improve long-term outcomes.