Çağdaş Tıp Dergisi 2011; 1(2): 92-93 Şenaylı ve ark. 92 Letter to Editor / Editöre Mektup MANAGEMENT OF A PATIENT WITH XERODERMA PIGMENTOSUM FOR ESOPHAGEAL DILATATION Xeroderma Pigmentosum Olan Bir Hastada Özofagus Dilatasyonu Yönetimi Yesim SENAYLI 1 Atilla SENAYLI 2 Dear Editor, Fourteen years old female patient was admitted to pediatric surgery clinics for swallowing problems. She had been diagnosed as xeroderma pigmentosum in another hospital and had been treated for dermatological problems. She had mental retardation and orthopedic problems like scoliosis. She could not walk by herself and wheelchair was used for her mobilization. No treatment for neurological problems had been given. Swallowing difficulties began nearly 2 years ago. First she could not swallow solid meals. The problem progressed and when she was admitted to our hospital she could only swallowed liquids for 2 months. She was hospitalized and treated with intravenous nutrition support solutions at first. Water soluble contrast meal for pharynx and upper esophagus graphics was performed and upper esophageal sphincter dystonia was diagnosed. Esophageal dilatation with general anesthesia was suggested to be the best way to choice in the patient’s circumstance. Anesthesia induction with thiopental, fentanyl and vecuronium were administrated intravenously. For maintenance, O2/N2O mixture and sevoflurane according to patient weight and age was used. Esophagoscopy was found to be normal for anatomic abnormalities and dilatation was performed. Patient waked up without problem and discharged from the hospital with well swallowing of soft meals. She could not take solids because of severe dental problems. In 6 months of follow-up, parents has not observed worsening in her swallowing. Xeroderma pigmentosum is a rare disease and inherited as an autosomal recessive trait (1). In Xeroderma pigmentosum, there are genes called A to G and some of these genes involved only in nucleotide excision repair (XPA and XPC) whereas the others are not only in nucleotide excision repair but also implicated in other processes including transcription and recombination (1). Xeroderma pigmentosum phenotype can result from the defect in a part of these seven classic nucleotide excision repair (1). In Xeroderma pigmentosum, as there is an acute photosensitivity characterized by sunlight induced abnormal pigmentation, skin is usually like a dry parchment and precocious cutaneous lesions are seen (1). Besides, about 30% of Xeroderma pigmentosum patients have progressive neurological 1 TCSB Health Education Directorate Ankara / Turkiye 2 Department of Pediatric Surgery, Yıldırım Beyazıt University, Ankara/ Turkiye Corresponding Author: Yesim SENAYLI, TCSB Health Education Directorate, Ankara, Türkiye Tel: +90 312 3260554 Email: ysenayli@e-kolay.net Başvuru Tarihi: 26-05-2011 Kabul Tarihi: 21-09-2011