Post-Anesthesia Aggravation in Xeroderma Pigmentosum
Post-Anesthesia Aggravation in Xeroderma Pigmentosum
Introduction Xeroderma pigmentosum is a rare autosomal recessive disease that causes changes in skin pigmentation, precancerous lesions and neurological abnormalities. It is a defect in the nucleotide excision repair mechanism. It has been reported that volatile anesthetics has a possible genotoxic side effect and deranged nucleotide excision repair in cells obtained from a patient with xeroderma pigmentosum.
We report an unusual case of postoperative neurological aggravation in a patient with xeroderma pigmentosum anesthetized with sevoflurane.
Case presentation A 24-year-old African woman, who has had xeroderma pigmentosum since childhood, was admitted to our hospital for a femoral neck fracture. A preoperative physical examination revealed that she had a resting tremor with ataxia. She had cutaneous lesions such as keratosis and hyperpigmentation on her face and both hands. There was no major alteration of cognitive function, muscular strength was maintained and her osteotendinous reflexes were preserved. Surgical fixation was performed under general anesthesia after the failure of spinal anesthesia. All parameters were stable during surgery. When she woke up four hours later, the patient presented with confusion and psychomotor agitation, sharpened reflexes and the Babinski reflex was present. Her postoperative test results and a magnetic resonance imaging scan were unremarkable. It was suggested that sevoflurane had had a probable deleterious effect on the neurological status of this patient.
Conclusion The anesthetizing of a patient with xeroderma pigmentosum is associated with a risk of worsening neurological disorders. At present, there are no clear recommendations to avoid the use of volatile agents in the anesthetic management of patients with xeroderma pigmentosum. More clinical and experimental research is needed to confirm the sensitivity of patients with xeroderma pigmentosum to sevoflurane and other halogenated anesthetics.
Xeroderma pigmentosum (XP) is a rare autosomal recessive disease, which is characterized by hypersensitivity of the skin to ultraviolet (UV) radiation and progressive neurological complications. It is caused by a defect in the nucleotide excision repair mechanism. Estimated incidences vary from 1 in 20,000 in Japan to 1 in 250,000 in the USA, and approximately 2.3 per 1 million live births in Western Europe. Anecdotally, the incidence in North Africa and the Middle East is substantially higher. Little information exists on the optimal anesthetic management of these patients. It has been reported that volatile anesthetics have a genotoxic side effect in the cells of patients with XP and may worsen the symptoms. However, up to now, there are no human data for this effect. This report aimed at describing a postoperative neurological complication after general anesthesia in a patient with XP submitted to surgery for a femoral neck fracture and discussing the probability of sevoflurane as the factor of deterioration.
Abstract and Introduction
Abstract
Introduction Xeroderma pigmentosum is a rare autosomal recessive disease that causes changes in skin pigmentation, precancerous lesions and neurological abnormalities. It is a defect in the nucleotide excision repair mechanism. It has been reported that volatile anesthetics has a possible genotoxic side effect and deranged nucleotide excision repair in cells obtained from a patient with xeroderma pigmentosum.
We report an unusual case of postoperative neurological aggravation in a patient with xeroderma pigmentosum anesthetized with sevoflurane.
Case presentation A 24-year-old African woman, who has had xeroderma pigmentosum since childhood, was admitted to our hospital for a femoral neck fracture. A preoperative physical examination revealed that she had a resting tremor with ataxia. She had cutaneous lesions such as keratosis and hyperpigmentation on her face and both hands. There was no major alteration of cognitive function, muscular strength was maintained and her osteotendinous reflexes were preserved. Surgical fixation was performed under general anesthesia after the failure of spinal anesthesia. All parameters were stable during surgery. When she woke up four hours later, the patient presented with confusion and psychomotor agitation, sharpened reflexes and the Babinski reflex was present. Her postoperative test results and a magnetic resonance imaging scan were unremarkable. It was suggested that sevoflurane had had a probable deleterious effect on the neurological status of this patient.
Conclusion The anesthetizing of a patient with xeroderma pigmentosum is associated with a risk of worsening neurological disorders. At present, there are no clear recommendations to avoid the use of volatile agents in the anesthetic management of patients with xeroderma pigmentosum. More clinical and experimental research is needed to confirm the sensitivity of patients with xeroderma pigmentosum to sevoflurane and other halogenated anesthetics.
Introduction
Xeroderma pigmentosum (XP) is a rare autosomal recessive disease, which is characterized by hypersensitivity of the skin to ultraviolet (UV) radiation and progressive neurological complications. It is caused by a defect in the nucleotide excision repair mechanism. Estimated incidences vary from 1 in 20,000 in Japan to 1 in 250,000 in the USA, and approximately 2.3 per 1 million live births in Western Europe. Anecdotally, the incidence in North Africa and the Middle East is substantially higher. Little information exists on the optimal anesthetic management of these patients. It has been reported that volatile anesthetics have a genotoxic side effect in the cells of patients with XP and may worsen the symptoms. However, up to now, there are no human data for this effect. This report aimed at describing a postoperative neurological complication after general anesthesia in a patient with XP submitted to surgery for a femoral neck fracture and discussing the probability of sevoflurane as the factor of deterioration.
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