JOURNAL ARTICLE

MRI, MR spectroscopy, and diffusion tensor imaging findings in patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA)

Yukio Kimura, Noriko Sato, Kenji Sugai, Shinsuke Maruyama, Miho Ota, Kouhei Kamiya, Kimiteru Ito, Yasuhiro Nakata, Masayuki Sasaki, Hideharu Sugimoto
Brain & Development 2013, 35 (5): 458-61
22892189
Static encephalopathy of childhood with neurodegeneration in adulthood (SENDA) is a recently established disorder that is a subtype of neurodegeneration with brain iron accumulation (NBIA). We presented the first case report of SENDA of a 39-year-old female. She had psychomotor retardation from childhood and remained static for two decades. Then, at the age of 30, she developed severe dystonia and parkinsonism. Brain MRI revealed T2-weighted hypointensity signal in the globus pallidus and substantia nigra, and T1-weighted hyperintensity signal in the substantia nigra with a central hypointensity area. These clinical and imaging findings are characteristic of SENDA. Advanced MRI, including (1)H-MR spectroscopy (MRS) and diffusion tensor imaging (DTI), demonstrated similar findings of pantothenate kinase-associated neurodegeneration (PKAN), which is a major syndrome of SENDA. MRI plays a crucial role in the diagnosis of NBIA, especially SENDA.

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