[A case of mannosidosis type II].
A case of L-mannosidosis, a recessively inherited thesaurosis, is reported. Since birth the patient had evidence of immunodeficiency. The neurological manifestations developed during adolescence with slurred and slow speech with scanning, muscle flaccidity, sings of Trömner and Jacobson, intentional tremor, equilibrium disturbances. After many laboratory investigations the tests for inherited metabolic disorders made the correct diagnosis possible.
Szleper
M
M
Kliniki Chorób Naczyniowych Układu Nerwowego.
Zaremba
J
J
Czartoryska
B
B
D000328:Adult; D001260:Ataxia Telangiectasia / Q000175:diagnosis; D002855:Chromatography, Thin Layer; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008361:Mannosidases / Q000097:blood / Q000172:deficiency; D009844:Oligosaccharides / Q000652:urine; D013050:Spectrometry, Fluorescence; D008363:alpha-Mannosidosis / Q000175:diagnosis* / Q000378:metabolism
D009844:Oligosaccharides; D008361:Mannosidases
Przypadek mannozydozy typu II.