15 article(s) found.
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Hereditary spastic paraplegia with SPG30 mutation: A report from North East China [2017] - 330KB
by Chunkui Zhou, Lijun Zhu, Xinyuan Li, Heqian Du, Shanshan Dong, Qun Liu, Shaokuan Fang
Hereditary spastic paraplegia is a heterogeneous group of genetic neurodegenerative disorders of the nervous system. It is classified into four subtypes based on the mode of inheritance; and among the...
An atypical case of mitochondrial acetoacetyl-CoA thiolase deficiency [2017] - 356KB
by Chun-Hui Hu, Qiao-Qiao Qian, Hong-Min Zhu, Dan Sun, Shu-Hua Wu, Ge-fei Wu, Jia-Sheng Hu, Zhi-Sheng Liu
Methylacetoacetyl-CoA thiolase deficiency (T2 deficiency) is a rare congenital and metabolic disease affecting the ketone body and isoleucine metabolism. The typical symptoms are refractory metabolic ...
Unique pattern of high-altitude cerebral edema in an elderly adult [2017] - 183KB
by Hyun Goo Kang, Jin Sung Cheong
A healthy 72-year-old woman climbed Mount Everest and stayed at the high-altitude (5,200m) peak for 5 days. She had to climb down given the abrupt appearance of nausea, somnolence, and truncal ataxia....
Medulloblastoblastoma with excessive nodularity: Typical imaging appearance [2017] - 905KB
by Win Myint Tun, Norlisah Ramli, Kein Seong Mun
Medulloblastoma is the most common form of childhood primary brain tumour arising from the cerebellar vermis. It is classified as WHO grade IV embryonal tumours and currently at least four histologica...
Left hand mirror writing with right alien hand syndrome in a patient following an infarct near the right genu of the corpus callosum [2017] - 365KB
by Do-Hyung Kim, Jin-Hong Roh, Jeong-jin Yi, Min-Won Park, Tae- Won Yang, Hyun Park, Dae Seob Choi, Oh-Young Kwon, Young-Soo Kim
Mirror writing is a rare phenomenon found in few pathologic conditions, such as in children with mental impairments, focal brain lesions following stroke, and diffuse progressive brain diseases such a...
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