High-density areas on muscle CT in childhood-onset Pompe disease are caused by excess calcium accumulation.
We report two patients with childhood-onset Pompe disease showing striking changes with high-density areas on skeletal muscle CT, not seen in adult- or infantile-onset forms of this disease. While the anterior compartment of the thigh muscles was less affected in the adult-onset form, the rectus femoris and tibial muscles were preferentially involved from the early stage in the childhood-onset form of Pompe disease. The high-density areas became increasingly diffuse with disease progression, producing a marbled pattern and ultimately resulting in homogeneous high density and muscle atrophy. Muscle biopsy specimens from the high-density areas showed striking vacuolar changes with many dense globular bodies in lysosomes. High calcium signals were identified by X-ray microanalysis using energy-dispersive X-ray spectroscopy in these areas. Excess calcium accumulation in the vacuoles was also confirmed with the glyoxal-bis(2-hydroxyanil) (GBHA) staining. The high density on CT was slightly reduced together with clinical improvement after enzyme replacement therapy in patient 2. Our data demonstrate that in childhood-onset Pompe disease, high-density areas on skeletal muscle CT images are due to the accumulation of calcium in dense globular bodies formed by a chronic degenerative process affecting autophagic vacuoles.
Ishigaki
Keiko
K
Department of Pediatrics, Tokyo Women's Medical University, School of Medicine, Shinjuku-ku, Tokyo 162-8666, Japan. keishi@ped.twmu.ac.jp
Mitsuhashi
Satomi
S
Kuwatsuru
Ryohei
R
Murakami
Terumi
T
Shishikura
Keiko
K
Suzuki
Haruko
H
Hirayama
Yoshito
Y
Nonaka
Ikuya
I
Osawa
Makiko
M
D000293:Adolescent; D000627:Aminophenols; D002118:Calcium / Q000378:metabolism*; D002648:Child; D056947:Enzyme Replacement Therapy / Q000379:methods; D006009:Glycogen Storage Disease Type II / Q000473:pathology* / Q000628:therapy; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000000981:diagnostic imaging* / Q000378:metabolism*; D014057:Tomography, X-Ray Computed / Q000379:methods
D000627:Aminophenols; C007899:glyoxal bis(2-hydroxyanil); D002118:Calcium