Internal medicine
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We herein report a patient with type I CD36 deficiency. The patient was initially suspected of having isolated cardiac sarcoidosis based on the presence of non-sustained ventricular tachycardia, delayed myocardial enhancement on magnetic resonance imaging (MRI), and diffuse accumulation of 18F-fluorodeoxyglucose (18F-FDG) on cardiac positron emission tomography (PET). Our findings suggest that the diagnosis of cardiomyopathy associated with CD36 deficiency is often missed, highlighting the importance of a differential diagnosis of isolated cardiac sarcoidosis.
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Case Reports
A Case of 17α-hydroxylase/17,20-lyase Deficiency Diagnosed at 45 Years of Age with Hyperaldosteronism.
17α-hydroxylase deficiency is a type of congenital adrenocortical hyperplasia that is typically diagnosed in childhood or adolescence. It manifests as hypertension with gonadal dysfunction as the primary symptom. We herein report 17α-hydroxylase/17,20-lyase deficiency (17OHD) diagnosed at the age of 45 years. ⋯ In this case, the variant was c.157_159 TCC del p. Phe53del, which has been frequently reported in Japan. The enzymatic deficiency due to this variant is partial, leading to a delay in making a correct diagnosis.
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A 34-year-old man with no medical history presented to our hospital with a sore throat and difficult oral intake for two days before admission. He had various symptoms, including red eyes, ocular discharge, a fever, and intraoral ulcers, and he was admitted immediately. ⋯ The patient's condition improved with conservative treatment. This case of severe and varied symptoms caused by co-infection with adenovirus and SARS-CoV-2 has been previously reported.