title: Charcot spine in a person with congenital insensitivity to pain with anhydrosis: a case report of re-diagnosis.
abstract: We report the case of a 43-year-old woman referred for evaluation of worsening gait. Her initial evaluation led to a diagnosis of a Charcot spine and 2 spinal stabilization surgeries. Because no clear cause for the Charcot spine could be determined from the patient's history or initial evaluation, an extensive diagnostic work-up was undertaken, which ultimately led to a diagnosis of congenital insensitivity to pain with anhydrosis (CIPA). This diagnosis was known and confirmed by the patient's parents but was unknown to the patient and her treating physicians. Unique to this case is not only the significant medical implications and the value of the re-diagnosis and confirmation of this rare condition, but also the rarer occurrence of a Charcot spine in a person with CIPA.
authors.affiliation: Department of Physical Medicine and Rehabilitation, Northwestern University Feinberg School of Medicine, Rehabilitation Institute of Chicago, Chicago, IL, USA. jsliwa@ric.org
authors.forename: James A
authors.initials: JA
authors.lastname: Sliwa
authors.forename: David
authors.initials: D
authors.lastname: Rippe
authors.forename: Van
authors.initials: V
authors.lastname: Do
mesh_terms: D000328:Adult; D001177:Arthropathy, Neurogenic / Q000175:diagnosis* / Q000534:rehabilitation; D003937:Diagnosis, Differential; D005260:Female; D005500:Follow-Up Studies; D020233:Gait Disorders, Neurologic / Q000175:diagnosis / Q000209:etiology; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000175:diagnosis* / Q000534:rehabilitation; D006801:Humans; D007007:Hypohidrosis / Q000150:complications / Q000175:diagnosis*; D000699:Pain Insensitivity, Congenital / Q000175:diagnosis*; D018570:Risk Assessment; D012720:Severity of Illness Index; D013122:Spinal Diseases / Q000175:diagnosis* / Q000534:rehabilitation