Congenital insensitivity to pain with anhidrosis: ocular and systemic manifestations.

Purpose: To report the incidence and severity of the ophthalmologic manifestations in patients with congenital insensitivity to pain with anhidrosis.

Methods: Fifteen Bedouin children with congenital insensitivity to pain with anhidrosis underwent complete ocular examination, including refraction and assessment of corneal sensation, and a detailed neurologic examination, including measurement of median nerve motor and sensory conduction. Patients with corneal ulcers were treated appropriately.

Results: In the 15 children (eight girls and seven boys, with a mean age of 3.75 +/- 2.67 years; range, 9 months to 9 years), corneal sensation was absent in both eyes. Corneal opacities were present in 10 children, five of whom had bilateral corneal opacities. Corneal ulcers were found in seven children, two of whom had bilateral ulcers, and in three children the ulcers recurred. The corneal ulcers were characterized by very poor healing. The surgical procedures included four lateral tarsorrhaphies, two corneal patch grafts, and one penetrating keratoplasty. All the patients had self-inflicted injuries varying from skin ulcers, burns, and bone fractures to autoamputations of fingertips and tongues. Many patients showed delayed healing and repair of bone and skin injuries. All patients had attacks of hyperpyrexia, moderate mental retardation, and hypotonicity with absent superficial sensation to light touch. Results of median nerve motor and sensory conduction studies were within normal limits.

Conclusions: The patients with congenital insensitivity to pain and anhidrosis and absent corneal sensation showed a marked tendency to develop corneal ulcers that healed poorly. Congenital insensitivity to pain and anhidrosis, although rare, should be considered in the differential diagnosis of neurotrophic keratitis.