A 27-year-old man was diagnosed with
dyskeratosis congenita from DKC1 gene mutation at 9 years of age and had been followed-up regularly.An upper gastrointestinal endoscopy performed for
vomiting revealed
gastric varices.Further examination resulted in a diagnosis of Stage Ⅳrectal
cancer with
portal hypertension,
splenomegaly, liver, and lung
metastasis and he was referred to our department.A laparoscopic
splenectomy was performed, followed by a laparoscopic low anterior resection for
rectal cancer.Subsequently, resection of the pulmonary and liver
metastasis was performed, resulting in macroscopic radical resection.However, 3 months after the
hepatectomy, unresectable multiple lung
metastasis was detected and he received 5 courses of
chemotherapy with
cetuximab.A grade 3
skin rash was observed and
chemotherapy was discontinued. After 5 courses, he had
pneumothorax and received drainage.He had sudden
respiratory failure 2 days after pleural adhesion
therapy of
OK-432 was performed.He was diagnosed with
interstitial pneumonia induced by
OK-432 and
steroid pulse
therapy, which resulted in his death without improvement 21 days after admission.