Internal medicine
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We encountered a 37-year-old Japanese man with KIF1A-associated neurological disorder (KAND) who exhibited motor developmental delay, intellectual disability, and slowly progressive cerebellar ataxia, hypotonia, and optic neuropathy. Pyramidal tract signs were evident late in this case. At 30 years old, the patient developed a neurogenic bladder. ⋯ L278P) of KIF1A. Serial neuroradiological studies revealed atrophy of the cerebellum at an early age, and cerebral hemisphere atrophy progressed slowly over a 22-year observation period. Our study suggests that the primary etiology of KAND may be acquired, long-standing neurodegeneration rather than congenital hypoplasia.
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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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We herein report a three-year-old boy with septic pulmonary embolism caused by Tsukamurella paurometabola bacteremia during chemotherapy for rhabdomyosarcoma. During the interval of chemotherapy, the patient was temporarily discharged with a peripherally inserted central venous catheter but was re-admitted to the hospital with a fever on the same day. ⋯ The patient had a persistent fever, and computed tomography performed on the ninth day showed septic pulmonary embolism. We stress the importance of being aware of the possibility of septic pulmonary embolism in patients with Tsukamurella bacteremia.
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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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Guillain-Barré syndrome (GBS) cases are generally monophasic, and recurrence is rare. However, the pathogenesis and pathophysiology of recurrent GBS remain to be fully elucidated. There are few detailed reports of patients who have been infected twice with Campylobacter jejuni and have developed GBS twice. ⋯ Although our patient was reinfected with C. jejuni, several different anti-ganglioside antibodies were identified, and the clinical manifestations were more severe than those in the first GBS episode. We compared the anti-ganglioside antibodies and nerve conduction studies findings between the two GBS episodes. This case suggested that different antibodies are involved and produce different symptoms even when C. jejuni infection is the trigger in recurrent episodes.