Charcot spinal arthropathy in patients with congenital insensitivity to pain: a report of two cases and review of the literature.

Charcot spine, or neuropathic spinal arthropathy, involves the progressive destruction of the spinal joint due to the lack of normal protective sensations and proprioception. A rare cause of Charcot spine is congenital insensitivity to pain, which is an absent or abnormal response to painful stimuli. There are few case reports describing this condition, and long-term follow-up data are limited. The presentation and treatment of two patients with Charcot spine secondary to congenital insensitivity to pain are described. Both cases were characterized by lumbar involvement and were treated with circumferential decompression and an extended lumbo-pelvic fusion construct. The cases described here demonstrate stable neurological status at 1.5 and 5 years follow-up. Patient characteristics, pre- and post-operative imaging, operative approach, and outcomes are described. The literature regarding this rare condition is also reviewed, with an emphasis on operative management and outcomes. Surgical management is traditionally complicated by a high rate of hardware failure and adjacent segment degeneration. The current review highlights the importance of prompt and aggressive management following diagnosis of Charcot spine, as well as extended follow-up.

Charcot arthropathy because of congenital insensitivity to pain in an adult.

BACKGROUND: Congenital insensitivity to pain is a rare disorder that can lead to neuropathic arthropathy of any joint including the spine. Most of the case reports in the literature are in the pediatric population. PURPOSE: This case report emphasizes the importance of anterior and posterior fusion in patients with congenital insensitivity to pain. The patient was initially treated as if the deformity was postinfectious. STUDY DESIGN SETTING: The patient was treated in a university-based tertiary care center. METHODS: The patient underwent an anterior decompression and fusion with instrumentation that failed with ambulation. An anterior and posterior revision with instrumentation was then performed to stabilize the Charcot spine. RESULTS: The patient had an excellent final outcome. At 2 years postoperatively, he is solidly fused and back to his normal occupation. CONCLUSION: Anterior and posterior fusion is essential in neuropathic spinal arthropathy. Congenital insensitivity to pain can manifest problems into adulthood.

Orthopedic aspects of familial insensitivity to pain due to a novel nerve growth factor beta mutation.

BACKGROUND: Congenital insensitivity to pain is a rare hereditary sensory neuropathy. PATIENTS: We present 6 patients from a family with a mutation in the nerve growth factor beta gene (NGFB). RESULTS: 3 patients were homozygous with a mutilating arthropathy starting early in life, and 3 patients were presumably heterozygous with a milder course starting in adulthood. All patients had normal mental abilities. In addition to absence of deep pain, the patients had impaired temperature sensation, but no autonomic deficiency. Sural nerve biopsies showed a moderate loss of A-delta fibres and a severe reduction in C fibers. Clinically, the disorder most often affected the lower extremities, with an insidious progressive joint swelling or a painless fracture, but the spine could also be involved with gross and unstable spondylolisthesis. Fracture healing was uneventful, but the arthropathy was progressive, eventually resulting in gross deformity and instability. When treating patients with congenital disorders such as this one, it is important to consider the slowly progressive nature of the disorder, and the orthopedic operations should therefore be planned from a long-term standpoint. Arthrodesis, limb lengthening and spinal decompression or fusion are the only elective procedures that seem reasonable. Fitting of orthosis for joint protection is also demanding. To delay the development of neuropathic arthropathy, patient education is essential but difficult in the very young. INTERPRETATION: The different expression between homo- and heterozygous subjects and the central role of nerve growth factor make this disease an interesting model system for studies of disease mechanisms and the molecular background to pain.

Anaesthesia for congenital analgesia. A case report.

Bilateral amputations were performed without analgesia on a patient with congenital insensitivity to pain (congenital analgesia). Positioning, vasomotor control and possible sensitivity to anaesthetic drugs are discussed.