MRI, MR spectroscopy, and diffusion tensor imaging findings in patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA).
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.
Department of Radiology, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
Yukio
Y
Kimura
Noriko
N
Sato
Kenji
K
Sugai
Shinsuke
S
Maruyama
Miho
M
Ota
Kouhei
K
Kamiya
Kimiteru
K
Ito
Yasuhiro
Y
Nakata
Masayuki
M
Sasaki
Hideharu
H
Sugimoto
D000328:Adult; D001921:Brain / Q000378:metabolism / Q000473:pathology; D056324:Diffusion Tensor Imaging; D005260:Female; D006801:Humans; D019189:Iron Metabolism Disorders / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism*; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D019150:Neuroaxonal Dystrophies / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism*; D006211:Pantothenate Kinase-Associated Neurodegeneration; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000172:deficiency
D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase