Rinshō shinkeigaku = Clinical neurology
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We report a patient of 32-year-old female with central IgG4-related disease. She developed headache and visual disturbance. On examination, she revealed diabetes insipidus, retrobulbar neuritis, hyperreflexia and limb weakness. ⋯ IgG4 immunohistochemistry showed no IgG4 + plasma cells within the inflammatory infiltrate. During treatment with intravenous pulse methylprednisolone followed by oral prednisolone, she revealed recovery of visual acuity with improvement of hypertrophic pachymeningitis and normalization of serum IgG4. This is a first report of IgG4-related hypertrophic pachymeningitis which involved cranial, cervical and lumbosacral regions as well as infundibulo-hypophysitis in a young female.
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The patient was a 53-year-old male. He showed steppage gait at the age of 11 and equinus foot at 13. He walked unaided with shoe-insoles to support his heels. ⋯ Later, a mutation analysis of the LMNA gene disclosed a known missense mutation of p. Arg377His, and we diagnosed him as EDMD2 (laminopathy). Contractures could be the clue to diagnose EDMD and indicate the need for pacemakers and defibrillators in patients with cardiac conduction disorders.
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Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is a rare central nervous system inflammatory disease characterized by the punctate gadolinium enhancement peppering the pons and the cerebellar peduncles as neuroimaging. We report the case of a 66-year-old woman who presented with CLIPPERS associated with swelling in the brainstem. She was hospitalized because of gait ataxia and consciousness disturbance. ⋯ The patient was diagnosed with CLIPPERS, and treatment with increased dose of corticosteroid induced a clinical improvement. Previous reports well described a characteristic MRI finding of punctate enhancement peppering the pons. In addition, the pons and cerebellar peduncles swelling can occur in this disorder.
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A 51-year-old man complained of continuous pain lasting about 3 weeks around his forehead and left orbit-locations where pain may indicate conjunctival injection and lacrimation. Upon arrival to our hospital, his neurological examination was normal, and brain MRI showed no abnormality. The headache disappeared with indomethacin treatment (75 mg/day), and a diagnosis of hemicrania continua (HC) was established according to the International Classification of Headache Disorders, 2nd Edition. ⋯ Although HC is one of the indomethacin-responsive headaches, continuous administration can cause side effects including gastrointestinal disorders. Such side effects can decrease the tolerability of indomethacin, and may eventually lead to its reduction or discontinuation. Pregabalin can be an alternative to indomethacin for treating HC.
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The symptoms of malignant (lethal) catatonia has been reported similar to initial symptoms of anti-NMDAR encephalitis. Subsequently, this autoimmune limbic encephalitis has been noticed in many psychiatrists. We have experienced several cases with malignant catatonia having anti-NMDAR antibody without clinical signs of encephalitis. ⋯ There is established evidence of NMDAR hypofunction as a central component of the functional disconnectivity; this is one of the most accepted models for schizophrenia. Moreover, autoimmune mechanisms have been proposed to be involved, at least in subgroups of schizophrenia patients. Further research of anti-NMDAR antibody and encephalitis would be important clues for the investigation of schizophrenia, catatonia and atypical psychosis.