A Unique Autosomal Dominant Disorder with Indifference to Pain: Clinicopathologic Correlation of Indifference to Pain and Thalamic Gliosis

Abstract

We present updated information on a previously reported kindred with an autosomal dominant disorder variably expressed as indifference to pain, dementia, and ataxia. Additional clinical and radiological information is presented, as are autopsy results form the index case. In addition to evidence of Alzheimer’s disease, the autopsy revealed bilateral thalamic gliosis, which may be a neuroanatomic substrate for the indifference to pain seen in this patient. To our knowledge, this is the first reported association of thalamic gliosis and indifference to pain.

Chronic plantar ulcer secondary to congenital indifference to pain

“…CIP is a rare diagnosis characterised by altered perception of pain in the context of normal sensory exam and nerve biopsy. 3,4 Patients often present in childhood with chronic wounds. Case reports have described affected hips, 5,6 knee and ankle joints, 2,7 as well as osteomyelitis of the jaw.…”

Chronic plantar ulcer secondary to congenital indifference to pain

“…CIP is a rare diagnosis characterised by altered perception of pain in the context of normal sensory exam and nerve biopsy. 3,4 Patients often present in childhood with chronic wounds. Case reports have described affected hips, 5,6 knee and ankle joints, 2,7 as well as osteomyelitis of the jaw.…”

Chronic plantar ulcer secondary to congenital indifference to pain

“…CIP is a rare diagnosis characterised by altered perception of pain in the context of normal sensory exam and nerve biopsy. 3,4 Patients often present in childhood with chronic wounds. Case reports have described affected hips, 5,6 knee and ankle joints, 2,7 as well as osteomyelitis of the jaw.…”

Chronic plantar ulcer secondary to congenital indifference to pain

“…CIP is a rare diagnosis characterised by altered perception of pain in the context of normal sensory exam and nerve biopsy. 3,4 Patients often present in childhood with chronic wounds. Case reports have described affected hips, 5,6 knee and ankle joints, 2,7 as well as osteomyelitis of the jaw.…”