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01:55![[info]](http://lj.rossia.org/img/userinfo.gif){kind=small} double_agent[Lien] |
A new case of complete primary cerebellar agenesis Дівчина без мозжочка. Мозочок (лат. cerebellum — дослівно «малий мозок») — відділ головного мозку хребетних, що відповідає за координацію рухів, регуляцію рівноваги і м'язового тонусу. У людини розташований позаду від довгастого мозку і варолієвого моста, під потиличними частками півкуль головного мозку. Cerebellar agenesis is an extremely rare condition implying complete absence of the cerebellum... A 24-year-old female patient was admitted to hospital complaining of dizziness and the inability to walk steadily for more than 20 years, and nausea and vomiting for ∼1 month. She is married with a daughter, and her pregnancy and delivery were described as uneventful. Her parents had no history of neurological disorders. Her four sisters and one brother are described as neurologically normal. According to her mother, she was 4 years old before she could stand unassisted, and did not begin to walk unassisted until the age of 7, with a persistently unsteady gait. She never ran or jumped. Her speech was not intelligible until 6 years of age and she did not enter school. A neurological examination revealed she could cooperate and fully orientate. A verbal analysis test revealed her word comprehension and expression remained intact and she had no sign of aphasia, but mild to moderate signs of cerebellar dysarthria. The patient has mild voice tremor with slurred pronunciation and her voice quality is slightly harsh.  https://academic.oup.com/brain/arti |
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