Internal medicine
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Case Reports
Ectopic Adrenocorticotropic Hormone Syndrome due to Pancreatic Neuroendocrine Carcinoma: A Case Report.
A 55-year-old woman presented to her primary care physician with facial and lower leg edema. After being referred to our hospital because of hypothyroidism and hypokalemia on blood tests, she also had elevated adrenocorticotropic hormone (ACTH) and cortisol levels, but a dexamethasone suppression test showed no cortisol suppression. Ectopic ACTH syndrome due to pancreatic neuroendocrine carcinoma (PNEC) was suspected. endoscopic ultrasound-guided fine-needle aspiration was performed, and a histopathological examination of the obtained specimen revealed multiple liver metastases of the PNEC. Imaging after etoposide and cisplatin therapy showed cystic changes in the primary lesions and shrinkage of the liver metastases, and the ACTH levels were within the normal range.
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A 79-year-old woman developed herpes zoster ophthalmicus (HZO) with a vesicular rash on the nasal root, which developed soon after intravenous acyclovir therapy. Although varicella zoster virus DNA was undetectable in the cerebrospinal fluid, she presented with ophthalmoplegia without optic nerve dysfunction 32 days after the onset of HZO. ⋯ Ophthalmoplegia did not immediately respond to these therapies but resolved 4 months later. We should be aware that ophthalmoplegia can occur, even after HZO and meningitis are completely treated.
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An 86-year-old woman was admitted to our hospital with cryptogenic progressive dyspnea and dysphagia following a tracheostomy procedure 4 months prior to presentation. She exhibited fluctuating diplopia, bilateral vocal fold paralysis, normal nerve test results, negative findings for serum anti-acetylcholine receptor and anti-muscle-specific kinase antibodies, and positive findings for anti-LDL receptor-related protein 4 (LRP4). ⋯ Consequently, the patient was diagnosed with double-seronegative myasthenia gravis (DSN-MG) and began immunomodulatory therapy. This case emphasizes the diagnostic challenges of bulbar-type DSN-MG and underscores the value of a VFSS with edrophonium for diagnosing this condition.
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We herein report a 56-year-old man with severe hypocalcemia during ruxolitinib therapy for myelofibrosis transitioning from JAK2 mutation-positive polycythemia vera. Blood transfusions were administered every one to two weeks for ruxolitinib-induced anemia. ⋯ Intact-PTH levels were relatively low compared to calcium levels. Severe hypocalcemia with ruxolitinib is rare and may be caused by a combination of factors, impaired vitamin D activation due to liver or renal insufficiency, accumulation of calcium-chelating agents from blood transfusions, and inadequate compensatory response to PTH.
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We encountered a family with hereditary renal failure, renal medullary cysts, pancreatic hypoplasia, hypomagnesemia, liver enzyme abnormalities, and diabetes mellitus (DM). We identified a novel heterozygous variant of HNF1B (NM_000458.4:c.791dup, p. ⋯ This variant is located in the DNA-binding domain of the HNF1B protein and produces a truncated protein with a de novo sequence, suggesting that this variant changes HNF1B binding to genomic DNA or causes nonsense-mediated mRNA decay. Based on the phenotypes and identified gene variants, this family suffers from autosomal dominant tubulointerstitial kidney disease caused by this HNF1B variant.