Anesth Analg 2007;104:1561-1562
© 2007 International Anesthesia Research Society
doi: 10.1213/01.ane.0000261247.53075.dd
PAIN MEDICINE
Spinal Anesthesia in a Patient with Congenital Insensitivity to Pain with Anhidrosis
Carlos R. D. Oliveira, MD, TSA/SBA,
Fúlvio A. dos Santos, MD, ME3,
Celso S. Nogueira, MD, TSA/SBA, and
Emerson J. Mainardes, MD
From the Department of Anesthesiology, Irmandade da Santa Casa de Misericórdia de Santos, CET em Anestesiologia da Santa Casa de Santos, Santos, São Paulo, Brazil.
Address correspondence and reprint requests to Carlos Rogério Degrandi Oliveira, MD, TSA/SBA, Ave. Dr. Cláudio Luiz da Costa, 50, Santos, SP, Brazil 11075-900. Address e-mail to anestesiologia{at}hotmail.com.
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Abstract
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Congenital insensitivity to pain with anhidrosis (CIPA) is a rare, hereditary, autonomic recessive disorder. The inability to perceive pain results from loss of nociceptive afferents, while anhidrosis is caused by loss of innervation to the sweat glands. Insensitivity to pain and mental retardation lead to self-inflicted injuries, corneal lacerations, painless bony fractures, joint deformities with consequent chronic osteomyelitis, and septic arthritis. There are only a few reports on the anesthetic management for patients with CIPA. We describe the anesthetic management of a young woman with CIPA receiving bilateral arthrodesis of the ankle.
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Introduction
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Congenital insensitivity to pain with anhidrosis (CIPA) is a rare, hereditary, autonomic recessive disorder resulting from the mutation of the neurotrophic tyrosine receptor kinase 1 gene (NTRK1) (1). NTRK1 mutations cause defects in nerve growth factor signaling, leading to death of various nerve growth factor-dependent neurons (nociceptive sensory and autonomic sympathetic neurons) during the embryonal period (2). The inability to perceive pain results from loss of nociceptive afferents, while anhidrosis is caused by loss of innervation to the sweat glands. Insensitivity to pain and mental retardation lead to self-inflicted injuries (fingers, lips, and tongue), corneal lacerations, painless bony fractures, joint deformities with consequent chronic osteomyelitis, and septic arthritis. These patients often undergo several operations during their lifetime. As there are decreased peripheral and central norepinephrine activity and anhidrosis, CIPA patients may develop hyperthermia and hypotension during the perioperative period.
The diagnosis of CIPA is based on clinical features, a pharmacological test (intradermal injection of 1:10,000 histamine) and neuropathological findings (absence of unmyelinated axons, decrease in the number of small myelinated axons and normal distribution of large myelinated axons). A definitive diagnosis is made by testing patients for NTRK1 mutations (3). No specific therapy is available, and patients usually die from complications of the disease.
There are only a few reports concerning the anesthetic management of patients with CIPA. Virtually all of these describe the use of general anesthesia, which is typically well tolerated. We report a 19-yr-old woman with CIPA receiving bilateral arthrodesis of the ankle with blade plate fixation under uneventful spinal anesthesia.
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CASE REPORT
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A 19-yr-old woman, weighing 65 kg, with a history of CIPA, was admitted to our hospital due to joint deformities of both ankles. CIPA was not diagnosed until she was 8-yr old. Her laboratory examinations were normal, as was a physical examination of her heart and lungs.
Standard anesthesia monitors were applied, including noninvasive arterial blood pressure, electrocardiogram, and pulse oximeter. The patient was sedated with IV midazolam 5 mg. Spinal anesthesia was placed through a 27G Whitacre needle at the L3–4 interspace, with the patient in the sitting position, using 4 mL of 0.5% isobaric bupivacaine. Sensory block could not be evaluated.
The patient was placed in the supine position immediately after injection and 15 min later was positioned prone. Supplemental oxygen was provided via nasal prongs at the rate of 3 L · min–1. Intraoperative hypotension was treated with a total of 15 mg of ephedrine administered IV in incremental boluses of 5 mg each. Her systolic blood pressure was maintained between 100 and 120 mm Hg and heart rate between 60 and 80 bpm.
Her temperature was measured throughout the procedure and kept around 37°C with proper adjustment of room temperature. Surgery lasted for 4 h. No analgesic was necessary, because of her insensitivity to pain. There were no anesthetic complications.
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DISCUSSION
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Patients with CIPA lack pain sensation, but may have tactile hyperesthesia, which may produce unpleasant sensations during surgical manipulation. Although CIPA patients have very low plasma levels of norepinephrine and epinephrine, cardiovascular reflexes are preserved. Temperature regulation is impaired due to anhidrosis. As a result, CIPA patients suffer from recurrent episodes of unexplained fever, and 20% die of hyperthermia within the first 3 yr of life (3). Prevention of hyperthermia requires careful monitoring of temperature and adjustment of room temperature and the use of cool blankets if necessary.
Mental retardation in CIPA can be absent or it may vary from mild to severe. In our case, spinal anesthesia was conducted with light sedation and a good clinical outcome. Had our patient been severely mentally retarded, general anesthesia would have been preferred (4,5).
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Footnotes
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Accepted for publication February 5, 2007.
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REFERENCES
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- Miranda M, Di Virgilio M, Selleri S, et al. Novel pathogenic mechanisms of congenital insensitivity to pain with anhidrosis genetic disorder unveiled by functional analysis of neurotrophic tyrosine receptor kinase type 1/nerve growth factor receptor mutations. J Biol Chem 2002;277:6455–62.[Abstract/Free Full Text]
- Indo Y, Tsuruta M, Hayashida Y, et al. Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. Nat Genet 1996;13:485–8.[Web of Science][Medline]
- Rosemberg S, Marie SK, Kliemann S. Congenital insensitivity to pain with anhidrosis (hereditary sensory and autonomic neuropathy type IV). Pediatr Neurol 1994;11:50–6.[Web of Science][Medline]
- Tomioka T, Awaya Y, Nihei K, et al. Anesthesia for patients with congenital insensitivity to pain with anhidrosis: a questionnaire study in Japan. Anesth Analg 2002;94:271–4.[Abstract/Free Full Text]
- Okuda K, Arai T, Miwa T, Hiroki K. Anesthetic management of children with congenital insensitivity to pain with anhidrosis. Pediatr Anaesth 2000;10:545–8.[Web of Science][Medline]
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Abstract
Introduction
