[Long-term course in congenital analgesia]

Area of Science:

• Neurology
• Genetics
• Orthopedics

Background:

• Congenital insensitivity to pain (CIP) is a rare autosomal recessive disorder.
• Individuals with CIP lack the ability to perceive pain, leading to potential injury and long-term complications.

Purpose of the Study:

• To describe the long-term history and outcomes of eight patients with congenital insensitivity to pain.
• To investigate the orthopedic and neurological complications associated with this rare condition.

Main Methods:

• Longitudinal case study of eight patients diagnosed with congenital insensitivity to pain.
• Clinical evaluation of orthopedic status, neurological function, and patient history.

Main Results:

• Pain perception did not improve with age; patients adapted to their condition.
• Significant orthopedic complications, including arthropathy in knee and ankle joints, were observed, but hip joints were unaffected.
• Progressive neuropathic lesions led to lumbar spine changes and neurological deterioration, necessitating spinal fusion in three patients.
• Anosmia was present in all patients, but autonomic nervous system functions remained intact.
• Absence of labor pain was noted in pregnant patients.

Conclusions:

• Congenital insensitivity to pain leads to significant, lifelong orthopedic challenges, particularly affecting the lower extremities.
• Neuropathic lesions and associated spinal complications are a major concern in the long-term management of CIP.
• Despite the absence of pain, individuals can adapt, but require careful monitoring for skeletal and neurological issues.