Hämatemesis und Dysphagie bei 20 Jahre alter Frau mit kongenitalem kaudalen Regressionssyndrom und Situs inversus partialis

A 20-year-old woman with a four-week history of dysphagia, weight loss of four kilograms and unspecific abdominal pain was admitted because of sudden haematemesis. The physical examination showed a patient with a prominent kyphoskoliosis. The patient reported of having a situs inversus abdominalis and a tethered cord syndrome. Bladder function disorders were present since childhood. Upper endoscopy demonstrated a 4cm large, exophytically growing necrotic tumour of the oesophagus. The CT scan showed a space occupying tumour of the oesophagus and metastases in a size of 1.5 cm in both lungs. Further imaging revealed a UICC-Stadium IVB (T 2 N x M 1b ). Histology of the tumour biopsies showed a poor differentiated squamous cell carcinoma. Staging after the 6 th dose cisplatin (100mg/m 2 /die) and 5-fluorouracil (5 x 1000 mg/m 2 /die) showed a mild reduction of the tumour and the metastases. The patient died ten months later of multiorgan failure after severe progress of tumour and metastatic growth. The manifestation of squamous cell carcinoma of the oesophagus is unusual in people at the age of twenty. Genetic and chromosomal analysis of the patient gave no evidence for a hereditary disorder. Drug history revealed that the patient had been treated with the alpha-receptor blocking drug phenoxybenzamine over at least 12 years for bladder dysfunction. Animal experiments of rats with exposition of phenoxybenzamine over 24 months produced gastrointestinal malignomas. By the German admission board phenoxybenzamine is only recommended for short term therapy. It seems to be likely that even in humans phenoxybenzamine acts as a mutagenic substance and should be carefully used in long-term treatment.