First instance of pain in congenital pain insensitivity with anhidrosis

Abstract

Introduction: This case of congenital insensitivity to pain with anhidrosis with a mutation in the NTRK1 gene from Palestine, sheds light on the variability of the disease. The patient's atypical symptoms including blindness, multiple amputations, and a recent spinal abscess causing tenderness provide new perspectives on the wide array of manifestations of this rare syndrome.

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. The patient displayed symptoms commonly seen in HSAN IV, but did not exhibit intellectual disability, Hypotonia or episodic fever in the absence of an ongoing inflammation.

Conclusion: This case demonstrates the complexities of congenital insensitivity to pain with anhidrosis, the possibility of different and unique clinical symptoms that are rarely mentioned in the literature to be associated with certain mutations.

Keywords: Anhidrosis; Congenital insensitivity to pain (CIP); Congenital insensitivity to pain and anhidrosis (CIPA); Hereditary sensory and autonomic neuropathy (HSAN); Spinal abscess.