Delayed or late-onset type II glycogenosis with globular inclusions.
Three unrelated patients, one girl, one boy, and an adult female, aged 14, 11 and 41 years, respectively, at the time of biopsy, revealed lysosomal glycogen storage, autophagic vacuoles and peculiar globular inclusions of distinct ultrastructure, which were reducing but did not appear like true "reducing bodies" as described in the congenital myopathy "reducing body myopathy". All three patients had residual activity of acid alpha-glucosidase in their muscle biopsy samples. Leukocytes in the girl showed normal acid alpha-glucosidase activity, but in the boy activity was reduced. Molecular genetic analysis of the GAA gene revealed disease-causing mutations in each patient: H568L/R672W, IVS1-13T>G/G615F, and IVS1-13T>G/IVS1-13T>G. Although only one patient with such globular inclusions has been reported up to now, the three patients described here indicate that in the late-onset type of GSD II such inclusions may not be rare.
Sharma
Mehar C
MC
Department of Neuropathology, Johannes Gutenberg University, Langenbeckstrasse 1, 55131, Mainz, Germany.
Schultze
Christoph
C
von Moers
Arpad
A
Stoltenburg-Didinger
Gisela
G
Shin
Yoon S
YS
Podskarbi
Teodor
T
Isenhardt
Klaus
K
Tews
Dominique S
DS
Goebel
Hans H
HH
D000328:Adult; D002648:Child; D005260:Female; D006003:Glycogen / Q000378:metabolism; D006009:Glycogen Storage Disease Type II / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D002479:Inclusion Bodies / Q000473:pathology* / Q000648:ultrastructure; D008297:Male; D046529:Microscopy, Electron, Transmission; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology* / Q000648:ultrastructure; D009154:Mutation; D016133:Polymerase Chain Reaction; D000520:alpha-Glucosidases / Q000235:genetics / Q000378:metabolism
D006003:Glycogen; C042059:glucosidase I; D000520:alpha-Glucosidases