A case of mannosidosis type Ii
Szleper, M.; Zaremba, J.; Czartoryska, B.
Neurologia i Neurochirurgia Polska 25(6): 797-801
1991
ISSN/ISBN: 0028-3843 PMID: 1811187 Document Number: 372378
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.
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