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- Akiko Shinya, Makoto Takahashi, Nozomu Sato, Yoichiro Nishida, Akira Inaba, Motoki Inaji, Takanori Yokota, and Satoshi Orimo.
- Department of Neurology, Kanto Central Hospital, Japan.
- Intern. Med. 2021 Jul 15; 60 (14): 2301-2305.
AbstractA 42-year-old man with a history of migraine and bilateral syndactyly presented with numbness of the extremities and shaking legs, which thus prevented him from working as a carpenter. A neurological examination revealed spastic paraparesis with pathological reflexes on all four extremities. Oculo-dento-digital dysplasia (ODDD) was suspected based on his medical history and characteristic facial appearance including small eye slits, thin mouth, and pinched nose with anteverted nostrils. Genetic tests revealed a gap junction alpha 1 (GJA1) gene mutation and confirmed the diagnosis of ODDD. His spastic paraparesis was resistant to oral antispastic medication, however, his symptoms successfully improved after the initiation of intrathecal baclofen therapy, which thus allowed him to return to work.
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