Severe encephalopathy, lactic acidosis, vegetative instability and neuropathy with 5-Fluorouracil treatment - pyrimidine degradation defect or beriberi?

We present the case of a 19-year-old female with nasopharyngeal carcinoma, who received two courses of chemotherapy with 5-fluorouracil (5-FU) in combination with folic acid and cisplatin. Upon developing esophageal strictures in the course of her radiotherapy, she required total parenteral nutrition. In the course of therapy, the patient developed severe multisystem failure with encephalopathy, lactic acidosis, vegetative instability and neuropathy. The treatment with 5-FU can lead to severe toxicity due to enzyme deficiencies in the degradation of pyrimidines, but it can also lead to thiamine deficiency with the classic symptoms of beriberi. Beriberi is a rare disorder, usually attributed to malnutrition or alcoholism. 5-FU has been shown to induce thiamine depletion. Reduced food intake or total parenteral nutrition devoid of vitamin supplements may aggravate symptoms. We were unable to find a genetic cause for increased 5-FU toxicity in our patient, ruling out deficiencies of dihydropyrimidine dehydrogenase, dihydropyrimidinase or ß-ureidopropionase and double-strand break repair deficits. We come to the conclusion that, even without any definable enzyme deficiency, treatment with 5-FU can lead to high toxicity due to thiamine deficiency if vitamin supplementation is not undertaken.

[Development of a specialised paediatric palliative home care service]. / Die Entwicklung einer spezialisierten ambulanten pädiatrischen Palliativversorgung.

In Germany annually 1,500-3,000 children die from life-limiting diseases. Symptoms and course of disease differ considerably depending on the character of the underlying disease. Due to the desire of the children and their families to spend the end of life at home a paediatric palliative home care service was founded at the university children's hospital of Duesseldorf. In the last 20 years a specialised paediatric palliative team evolved from an unstructured voluntary activity. Prospective aims are an area-wide professional supply of all paediatric palliative patients and the improvement of the cooperation with the resident paediatrician and paediatric palliative nursing services. Furthermore the establishment of networks as well as a proper communication among the professionals is inalienable.