Mannosidosis: a study of two patients, presenting clinical heterogeneity.
Two unrelated patients suffering from mannosidosis, aged 9 and 33 years, are reported, presenting two extremes in the phenotypic expression of this lysosomal storage disorder. Clinical, radiological, biochemical and therapeutical aspects of the disease are discussed. Our patients support the concept that mannosidosis is not a homogeneous syndrome but manifests wide clinical heterogeneity.
Jansen
P H
PH
Institute of Child Neurology, St. Radboud Hospital, Catholic University of Nijmegen, The Netherlands.
Schoonderwaldt
H C
HC
Renier
W O
WO
Wevers
R A
RA
Gabreëls
F J
FJ
D000328:Adult; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008361:Mannosidases / Q000032:analysis; D011859:Radiography; D008363:alpha-Mannosidosis / Q000000981:diagnostic imaging / Q000473:pathology* / Q000503:physiopathology
D008361:Mannosidases