Congenital insensitivity to pain with anhidrosis: Ocular and systemic manifestations

(PURPOSE)-P-.: To report the incidence and severity of the ophthalmologic m anifestations in patients with congenital insensitivity to pain with anhidr osis. (METHODS)-M-.: Fifteen Bedouin children with congenital insensitivity to pa in with anhidrosis underwent complete ocular examination, including refract ion and assessment of corneal sensation, and a detailed neurologic examinat ion, including measurement of median nerve motor and sensory conduction, Pa tients with corneal ulcers were treated appropriately. (RESULTS)-R-.: 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, fiv e of whom had bilateral corneal opacities. Corneal ulcers were found in sev en children, two of whom had bilateral ulcers, and in three children the ul cers recurred. The corneal ulcers were characterized by very poor healing. The surgical procedures included four lateral tarsorrhaphies, two corneal p atch grafts, and one penetrating keratoplasty. All the patients had self-in flicted injuries varying from skin ulcers, burns, and bone fractures to aut oamputations of fingertips and tongues. Many patients showed delayed healin g and repair of bone and skin injuries. All patients had attacks of hyperpy rexia, moderate mental retardation, and hypotonicity with absent superficia l sensation to light touch. Results of median nerve motor and sensory condu ction studies were within normal limits, (CONCLUSIONS)-C-.: The patients with congenital insensitivity to pain and a nhidrosis and absent corneal sensation showed a marked tendency to develop corneal ulcers that healed poorly. Congenital insensitivity to pain and an hidrosis, although rare, should be considered in the differential diagnosis of neurotrophic keratitis, (C) 1999 by Elsevier Science Inc. All rights re served.