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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Case Reports
A Case of Severe Legionella Pneumonia in Which Serial Testing by Ribotest® Legionella was Useful for the Diagnosis.
A 79-year-old man presented with chest pain, and urinary antigen tests for Legionella pneumophila (ImmunoCatch® Legionella and Ribotest® Legionella) were negative on admission. The next day, rapid respiratory failure suggested Legionella pneumonia, and levofloxacin was added. ⋯ Urinary antigen tests for Legionella pneumophila became positive on day 5. In the present case, retesting with Ribotest® Legionella, which could be negative early after the disease onset, was useful for diagnosing Legionella pneumonia, which led to the discontinuation of unnecessary steroid treatment.
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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.