STURGE WEBER KRABBE SYNDROME
\stˈɜːd͡ʒ wˈɛbə kɹˈab sˈɪndɹə͡ʊm], \stˈɜːdʒ wˈɛbə kɹˈab sˈɪndɹəʊm], \s_t_ˈɜː_dʒ w_ˈɛ_b_ə k_ɹ_ˈa_b s_ˈɪ_n_d_ɹ_əʊ_m]\
Sort: Oldest first
-
A congenital syndrome characterized by a port-wine nevus covering portions of the face and cranium (in the distribution of the ophthalmic division of the TRIGEMINAL NERVE) and angiomas of the meninges and choroid. Clinical manifestations include the onset of focal SEIZURES, progressive hemiparesis, GLAUCOMA, hemianopsia, and cognitive deficits in the first decade of life. By age two years, skull radiographs reveal "tramline calcifications" of the margins of the occipital and parietal lobes. Pathologically cortical neurons are replaced by glial tissue that undergoes calcification. (From Adams et al., Principles of Neurology, 6th ed, pp1018-9)
By DataStellar Co., Ltd
Word of the day
Procollagen Proline Dioxygenase
- mixed-function oxygenase that catalyzes hydroxylation prolyl-glycyl-containing-peptide, usually in protocollagen, hydroxyprolylglycyl-peptide. The enzyme utilizes molecular oxygen with a concomitant oxidative decarboxylation of 2-oxoglutarate to succinate. EC 1.14.11.2.