First instance of pain in Congenital Pain Insensitivity

Abstract

Abstract Introduction This case of congenital insensitivity to pain syndrome from Palestine, sheds light on the challenges of identifying and categorizing the condition. The patient's atypical symptoms including blindness, multiple amputations, and a recent spinal abscess causing tenderness provide new perspectives on the spectrum of HSAN-related disorders. Case presentation In this report, we describe the case of a 21-year-old male known to have congenital insensitivity to pain, who presented to the outpatient clinic complaining of fever, restlessness and new onset of back deformity. Further work-up revealed spinal abscess and destruction of multiple vertebrae leading to scoliosis. Treatment involved antibiotics for the spinal abscess, with subsequent resolution and discharge. However, the recurrence of fever prompted additional interventions, including a change in antibiotics and further imaging. Interestingly, the patient's family history showed a hereditary trend with a spectrum of symptoms amongst siblings, his condition resembles different HSAN types, though it does not fit into the classical classification. The patient displayed symptoms commonly seen in HSAN IV, but did not exhibit intellectual disability. The patient's intact ability to produce tears acknowledges the possibility of HSAN VIII. Conclusion This case demonstrates the complexities of congenital insensitivity syndromes and the challenges of diagnosing them. The unique clinical symptoms highlight the importance of comprehensive genetic testing for proper diagnosis and classification. Given the limited availability of genetic testing facilities in regions like Palestine, it is crucial to adopt a thoughtful approach to integrating them into regular healthcare practices. This highlights the importance of making diagnoses and conducting research on uncommon disorders such as congenital insensitivity to pain.