A 2-year-old girl presented with vomiting and diarrhea 7 hours after eating a large quantity of ginkgo seeds. She exhibited an afebrile convulsion 9 hours after ingestion. The serum concentration of 4-metoxypyridoxine was as high as 360 ng/mL. Although reported cases of ginkgo seed poisoning usually involve children who exhibit repetitive seizures that can be fatal, prompt administration of pyridoxal phosphate (2 mg/kg) may have prevented additional seizures. This is the first English-language case report measuring 4-metoxypyridoxine concentration during ginkgo seed poisoning. Awareness of the potential danger of overconsumption of this traditional food and its prompt treatment with pyridoxal phosphate may hasten recovery.
Recent advances in our understanding of the genetic mutations associated with melanoma have led to the classification of distinct melanoma subtypes. A number of reports have consistently demonstrated that mucosal and acral melanomas more commonly harbor KIT-activating mutations than do other subtypes. Success in treating gastrointestinal stromal tumors with imatinib has led to speculation that KIT-mutated melanoma might also be effectively managed using this approach. A 78-year-old woman presented with a 4-month history of rectal bleeding. A colonoscopy revealed a black polypoid mass, 30 mm in diameter, originating near the dentate line, and a biopsy revealed malignant melanoma. Computed tomography showed multiple liver and lung metastases. A KIT mutation analysis showed the L576P mutation in exon 11. The patient did not want to undergo chemotherapy including a tyrosine-kinase inhibitor, so palliative radiotherapy for rectal symptoms was performed, but the patient died 4 months later due to disease progression. We describe the first case of anorectal melanoma with a KIT-activating mutation in Japan and summarize findings from the literature regarding the efficacy of KIT kinase inhibitors on this melanoma subtype.
Gastrointestinal: Transmural colonic metastasis arising from primary cholangiocarcinomaj gh_6396 1329A 59-year-old woman presented with a sudden onset of pain in the right upper abdomen. Laboratory findings demonstrated elevated hepatobiliary enzymes. Ultrasound imaging demonstrated calculi in the gallbladder (GB) and thickening of the GB wall. Calculous cholecystitis was diagnosed. A percutaneous cholecystostomy and tube drainage of the GB was performed, which relieved the patient of her symptoms. Cholangiography via the drain tube demonstrated narrowing of the common bile duct, and a cytological examination indicated adenocarcinoma. Because of intermittent hematochezia during the previous 2 months, a colonoscopy was performed and multiple depressed erythematous lesions and mucosal retraction were found in the proximal transverse and sigmoid colon (Figure 1). These lesions contributed to the hematochezia because the colonic lesion was friable and bled easily with scope contact. A histological examination of the biopsy revealed adenocarcinoma (Figure 2), which was negative for CDX-2 and cytokeratin (CK)-20 and positive for CK-7. FDG-PET revealed multiple spotty FDG uptake in the peritoneal cavity and FDG uptake along the extrahepatic bile duct. We diagnosed a colonic metastasis arising from the primary cholangiocarcinoma. CK-7 and -20 are the widely used immunohistochemical markers that support a diagnosis of adenocarcinoma. CK-20 is positive in approximately 70-95% of colorectal and 20-40% of pancreaticobiliary adenocarcinomas. CK-7 is positive in 90-100% of pancreaticobiliary and 5-25% of colorectal adenocarcinomas. The CK-7 negative/CK-20 positive phenotype is found in more than 90% of colonic adenocarcinomas and the CK-7 positive/CK 20 positive or CK-7 positive/ CK-20 negative phenotypes are found in one third and two thirds of pancreaticobiliary adenocarcinomas, respectively. CDX-2 is a highly sensitive and specific marker for gastrointestinal adenocarcinoma (98% specificity for gastric and colorectal adenocarcinomas). A metastatic carcinoma of the colon is rare in clinical practice and comprises about 1% of all carcinomas of the colon. Several previous reports have revealed gastric cancer as the most common primary carcinoma metastasis to the colon, comprising 20-60% of metastatic carcinomas of the colon, followed by the pancreas, ovary, and lung. Metastasis of primary cholangiocarcinoma to the colon is rare, and the appearance of the metastastic lesion has been rarely reported. The appearance reported here is consistent with cancer infiltration into the mucosa from the deeper layers.
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