Internal medicine
-
A 16-year-old girl presented with a high fever that had persisted for more than 4 weeks. Computed tomography (CT) revealed a 4-cm mass in the left adrenal gland. Clinically, there were no obvious symptoms of adrenal hormone excess; however, serum interleukin-6 (IL-6) and C-reactive protein levels were significantly elevated. ⋯ The tumor was pathologically diagnosed as adrenocortical carcinoma (ACC), with a Weiss score of 5/9. The tumor cells were immunoreactive for IL-6. To our knowledge, this is the first case report of symptomatic IL-6-producing ACC that initially presented with a persistent fever.
-
A 67-year-old woman underwent a screening colonoscopy, which revealed a 7-mm rectal subepithelial lesion. Endoscopic submucosal dissection (ESD) confirmed a grade 1 rectal neuroendocrine neoplasm (NEN), and no further treatment was administered. ⋯ The patient died 13 years after ESD due to the progression of lung cancer. This case highlights the need for long-term follow-up in patients with small rectal NENs treated with endoscopic resection.
-
A 45-year-old man was diagnosed with CML in the chronic phase and therefore was sequentially treated with imatinib, dasatinib, nilotinib, and ponatinib. Neither ABL1 point mutations nor any additional chromosomal abnormalities were detected. ⋯ Two years after ponatinib administration, the patient died of a traumatic brain hemorrhage 15 years after the CML diagnosis. He did not progress to blast crisis, possibly because of the emergence of a loss-of-function ABL1 splicing variant.
-
Pseudohypoparathyroidism (PHP) is a rare disorder characterized by resistance to parathyroid hormone (PTH). Albright's hereditary osteodystrophy (AHO) is a characteristic physical condition associated with PHP. ⋯ The patient did not have AHO or other comorbidities but showed digital clubbing during childhood. Although digital clubbing is rarely associated with PHP, it may represent a phenotype of this disorder.
-
Objective Spastic paraplegia 7 (SPG7) is an autosomal recessive neurodegenerative disorder caused by biallelic pathogenic variants in SPG7. It is predominantly characterized by adult-onset slowly progressive spastic paraparesis. While SPG7 presenting with ataxia with or without spasticity is relatively common in Europe and North America, it is considered rare in Japan. ⋯ In addition, Patient 1 exhibited partial ophthalmoplegia and spastic paraparesis, whereas Patient 2 demonstrated cerebellar ataxia without spasticity. Conclusion The rarity of SPG7 in Japan may be attributed to variation in the minor allele frequency of the c.1529C>T, p. Ala510Val variant, which is more prevalent in Europe and North America than in other areas.