Article
A case of variant biochemical phenotype of Niemann-Pick disease type C accompanying savant syndrome.
Rinsho shinkeigaku = Clinical neurology - 22 Jun 2016
Hamatani Mio, Jingami Naoto, Uemura Kengo, Nakasone Naoe, Kinoshita Hisanori, Yamakado Hodaka, Ninomiya Haruaki, Takahashi Ryosuke
Abstract excerpt
A 40-year-old man was referred to our hospital because of vertical supranuclear gaze palsy, frequent sudden loss of muscle tonus and ataxia for several years. He had a history of prolonged neonatal jaundice. He was given a diagnosis of autism in his childhood, followed by a diagnosis of schizophrenia in his teenage. He also developed a savant skill of calendar calculating. (123)I-IMP-SPECT showed decreased...
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