Storage disorders presenting like mucopolysaccharidosis.
The term dysostosis multiplex is specifically applied to the group of radiological features collectively found in a number of specific metabolic disorders including the mucopolysaccharidoses, mucolipidosis, mannosidosis, fucosidosis and several other rarer conditions. We report eight cases of mannosidosis, fucosidosis and mucolipidosis with special emphasis on the differentiation from the more common mucopolysaccharidoses.
Sanklecha
M U
MU
Pediatric Research Laboratory, Seth G.S. Medical College, Parel, Bombay.
Kher
A
A
Naik
G G
GG
Bharucha
B A
BA
Mahajan
P
P
D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004413:Dysostoses / Q000000981:diagnostic imaging*; D005260:Female; D005645:Fucosidosis / Q000145:classification / Q000175:diagnosis / Q000473:pathology; D006801:Humans; D007223:Infant; D016464:Lysosomal Storage Diseases / Q000175:diagnosis*; D008297:Male; D009081:Mucolipidoses / Q000145:classification / Q000175:diagnosis / Q000473:pathology; D009083:Mucopolysaccharidoses / Q000175:diagnosis*; D011859:Radiography; D008363:alpha-Mannosidosis / Q000145:classification / Q000175:diagnosis / Q000473:pathology