A case of hydrocephalus during the course of sporadic Blau syndrome
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- M.D. Deguchi Akiko
- Department of Neurology, Nara Medical University
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- M.D., Ph.D. Mano Tomoo
- Department of Neurology, Nara Medical University Department of Rehabilitation Medicine, Nara Medical University
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- M.D. Iwasa Naoki
- Department of Neurology, Nara Medical University
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- M.D. Ozaki Maki
- Department of Neurology, Nara Medical University
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- M.D. Nakase Kenta
- Department of Neurosurgery, Nara Medical University
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- M.D., Ph.D. Kanazawa Nobuo
- Department of Dermatology, Hyogo College of Medicine
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- M.D., Ph.D. Sugie Kazuma
- Department of Neurology, Nara Medical University
Bibliographic Information
- Other Title
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- Blau症候群の長期経過中に水頭症を併発した1例
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Abstract
<p>Blau syndrome (BS) is a rare granulomatous inflammatory disease presenting in early childhood as dermatitis, arthritis, and uveitis. Here, we describe a case of hydrocephalus in a patient with sporadic BS. A 36-year-old female, with mutations in the NOD2 gene on chromosome 16, who had been diagnosed with BS at the age of 19 years, had visual impairment and required support when walking for a long time. She was admitted to our hospital due to deterioration in her walking ability and an inability to stand by herself. We diagnosed an obstructive hydrocephalus based on head MRI. The aqueductal stenosis and obstructive hydrocephalus associated with granulomatous lesions were considered in this case. After third ventricle fenestration, her standing movement and walking improved immediately.</p>
Journal
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- Rinsho Shinkeigaku
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Rinsho Shinkeigaku 61 (10), 692-695, 2021
Societas Neurologica Japonica