DANDY WALKER MALFORMATION
\dˈandi wˈɔːkə mˌalfɔːmˈe͡ɪʃən], \dˈandi wˈɔːkə mˌalfɔːmˈeɪʃən], \d_ˈa_n_d_i w_ˈɔː_k_ə m_ˌa_l_f_ɔː_m_ˈeɪ_ʃ_ə_n]\
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A congenital abnormality of the central nervous system marked by failure of the midline structures of the cerebellum to develop, dilation of the fourth ventricle, and upward displacement of the transverse sinuses, tentorium, and torcula. Clinical features include occipital bossing, progressive head enlargement, bulging of anterior fontanelle, papilledema, ataxia, gait disturbances, nystagmus, and intellectual compromise. (From Menkes, Textbook of Child Neurology, 5th ed, pp294-5)
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Word of the day
Dopamine Acetyltransferase
- An enzyme that catalyzes the of groups from acetyl-CoA to arylamines. They have wide specificity for aromatic amines, particularly serotonin, and can also catalyze acetyl transfer between arylamines without CoA. EC 2.3.1.5.