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Autosomal dominant insensitivity to pain with hyperplastic myelinopathy and autosomal dominant indifference to pain

Department of Medical Genetics (Dr. Comings) and the Department of Neuropathology and Research Pathology (Dr. Amromin), City of Hope National Medical Center, Duarte, California.

Two forms of aberrant sensation to pain are described: autosomal dominant insensitivity to pain and autosomal dominant indifference to pain. With indifference to pain, the sensation is received by the peripheral nerves but not perceived at a cerebral level. With insensitivity to pain, there is an abnormality of the spinal or peripheral nerves that interferes with transmission of the sensations for pain and temperature. In a family with insensitivity to pain, electron microscopy of the sural nerves demonstrated a unique abnormality of myelin that we have termed hyperplastic myelinopathy. The unmyelinated C fibers were normal, while the medium-sized or large-sized myelinated fibers were involved, indicating the importance of the latter in pain sensation.

Dr. Comings' address is Department of Medical Genetics, City of Hope National Medical Center, 1500 East Duarte Road, Duarte, CA 91010.

Received for publication April 10, 1974.

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