Internal medicine
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The PRPS1 gene encodes phosphoribosyl pyrophosphate synthetase 1 (PRS-1). The phenotypes associated with PRPS1 mutations include DFN2 (mild PRS-1 deficiency), X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) (moderate PRS-1 deficiency), Arts syndrome (severe PRS-1 deficiency), and PRS-1 superactivity1. ⋯ We herein report a Japanese patient with CMTX5 who had a novel hemizygous mutation c.82 G>C in PRPS1. Despite showing a typical clinical picture, the decrease in enzyme activity measured in the patient's erythrocytes was milder than in previously reported cases.
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We herein report a case of an extremely rare spinal cord endodermal sinus tumor (EST). A nine-year-old boy presented with progressive paraparesis, hypesthesia, and urinary retention. Gadolinium-enhanced magnetic resonance imaging (MRI) revealed multiple intradural enhancing lesions at T1 to T9 without evidence of intracranial tumors. ⋯ He received chemotherapy, but 12 months after surgery, rapid tumor progression and intracranial metastases with obstructive hydrocephalus were detected. Following external ventricular drainage, the patient's condition rapidly deteriorated, and he ultimately died. EST should be considered when confronting a homogenously enhancing intradural tumor of the spine on post-contrast MRI.
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Immune checkpoint inhibitors (ICIs), which have anti-tumor effects, are currently approved for treatment of several kinds of advanced malignancies. However, with their increasing use, a variety of immune-related adverse events (irAEs) in administered patients have been reported. We herein report a rare case of the simultaneous onset of acute pancreatitis and colitis as irAEs during nivolumab treatment given to a patient with renal cell carcinoma, who then shown marked improvement with corticosteroid therapy.
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Primary hepatocellular carcinoma (HCC) in patients <30 years old is extremely rare. In younger patients, HCC develops against a background of persistent hepatitis B virus infection. We herein report a 23-year-old woman with HCC with all-negative hepatitis virus markers developing in an apparently healthy liver. ⋯ A histological examination showed the presence of poorly differentiated HCC. The patient was diagnosed with HCC developing in a healthy liver. This is an extremely rare case of non-B non-C HCC.