Internal medicine
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We herein report a Japanese patient with myotonic dystrophy type 2 (DM2), which is rare in Japan. A 64-year-oldman had proximal muscle weakness and grip myotonia. ⋯ A muscle biopsy revealed increased central nuclei, pyknotic nuclear clumps and muscle fiber atrophy, mainly in type 2 fibers, raising the possibility of DM2. The diagnosis was genetically confirmed by the abnormal CCTG repeat size in cellular nucleic acid-binding protein (CNBP) on repeat-primed polymerase chain reaction, which was estimated to be around 4,500 repeats by Southern blotting.
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Case Reports
Nonepisodic Angioedema with Eosinophilia Following Receipt of the BNT162b2 mRNA COVID-19 Vaccine.
Angioedema with eosinophilia (AE) is a rare disease of unknown etiology characterized by episodic (EAE) or nonepisodic AE (NEAE). Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) mRNA-based vaccines function as immunogens and intrinsic adjuvants and have been shown to be safe in large-scale trials. ⋯ We herein report a case of self-limited but severe NEAE that developed in a young woman one week after receiving the second BNT162b2 mRNA vaccine. The symptoms that impaired her activities of daily living, such as edema, gradually resolved with supportive care over 10 weeks without corticosteroid treatment.
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Case Reports
Hyperthyroidism-induced Cerebral Venous Thrombosis Presenting as Chronic Isolated Intracranial Hypertension.
A 38-year-old woman with untreated Graves' disease was admitted to our hospital because of headache and diplopia for 3 months. A neuro-ophthalmic examination showed bilateral papilledema and abducens nerve paralysis. The cerebrospinal fluid pressure was extremely high. ⋯ The patient recovered after propylthiouracil and anticoagulation therapy. We herein report a rare case of cerebral venous thrombosis with hyperthyroidism presenting as chronic isolated intracranial hypertension. Hyperthyroidism can induce a hypercoagulable state and lead to venous thromboembolism.
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Mineralocorticoid deficiency (MD) with hyperkalemia is an important complication of adrenalectomy in patients with primary aldosteronism (PA). We herein report a 52-year-old man with refractory hypertension, hypokalemia, and severe renal dysfunction due to PA caused by a right adrenal adenoma. ⋯ Considering the patient's hypertension and severe renal dysfunction, we administered hydrocortisone instead of fludrocortisone, which improved the hyperkalemia and stopped the decline in the eGFR. Alternative therapy with hydrocortisone may be useful in such patients with MD.
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Case Reports
Charcot-Marie-Tooth Disease with A Novel Variant in Gap Junction Protein Beta 1 Presenting with Visual Field Defects.
Pathogenic variants in Gap Junction Protein Beta 1 (GJB1) cause X-linked Charcot-Marie-Tooth (CMT) disease type 1 (CMTX1), which is a common hereditary motor and sensory neuropathy. A 45-year-old man presented with progressive muscle weakness, atrophy, sensory disturbance of all limbs from childhood, and visual field defects in both eyes at 40 years old. ⋯ Patients with variants at codon 58 in GJB1 showed clinically varied phenotypes, ranging from demyelinating neuropathy to cerebellar ataxia. This patient may represent one of the various clinical phenotypes of GJB1 variants.