Muscle MRI of classic infantile pompe patients: Fatty substitution and edema-like changes

A. Pichiecchio; M. Rossi; C. Cinnante; G.S. Colafati; R. De Icco; R. Parini; F. Menni; F. Furlan; A. Burlina; M. Sacchini; M.A. Donati; S. Fecarotta; R.D. Casa; F. Deodato; R. Taurisano; M. Di Rocco

doi:10.1002/mus.25417

Muscle MRI of classic infantile pompe patients: Fatty substitution and edema-like changes

A. Pichiecchio, M. Rossi, C. Cinnante, G.S. Colafati, R. De Icco, R. Parini, F. Menni, F. Furlan, A. Burlina, M. Sacchini, M.A. Donati, S. Fecarotta, R.D. Casa, F. Deodato, R. Taurisano, M. Di Rocco

Research output: Contribution to journal › Article › peer-review

Abstract

Introduction: The aim of this study was to evaluate the muscle MRI pattern of 9 patients (median age: 6.5 ± 2.74 years) affected by classic infantile-onset Pompe disease who were treated with enzyme replacement therapy. Methods: We performed and qualitatively scored T1-weighted (T1-w) sequences of the facial, shoulder girdle, paravertebral, and lower limb muscles and short-tau inversion recovery (STIR) sequences of the lower limbs using the Mercuri and Morrow scales, respectively. Results: On T1-w images, mild (grade 1) or moderate (grade 2) involvement was found in the tongue in 6 of 6 patients and in the adductor magnus muscle in 6 of 9. STIR hyperintensity was detected in all areas examined and was categorized as limited to mild in 5 of 8 patients. Conclusions: On T1-w sequences, mild/moderate adipose substitution in the adductor magnus and tongue muscles was documented. STIR edema-like alterations of thigh and calf muscles are novel findings. Correlations with biopsy findings and clinical parameters are needed to fully understand these findings. Muscle Nerve 55: 841–848, 2017. © 2016 Wiley Periodicals, Inc.

Original language	English
Pages (from-to)	841-848
Number of pages	8
Journal	Muscle and Nerve
Volume	55
Issue number	6
DOIs	https://doi.org/10.1002/mus.25417
Publication status	Published - 2017

Keywords

glycogenosis II
infantile-onset Pompe disease
muscle MRI
Pompe disease
STIR
T2
adductor magnus muscle
Article
child
clinical article
clinical assessment
clinical evaluation
controlled study
enzyme replacement
female
gastrocnemius muscle
gluteus muscle
glycogen storage disease type 2
human
leg muscle
male
muscle disease
muscle edema
nuclear magnetic resonance imaging
nuclear magnetic resonance scanner
paraspinal muscle
pelvic girdle
preschool child
priority journal
qualitative analysis
school child
semimembranosus muscle
semitendinous muscle
shoulder girdle
tongue
adipose tissue
complication
diagnostic imaging
edema
image processing
pathology
skeletal muscle
Adipose Tissue
Child
Child, Preschool
Edema
Female
Glycogen Storage Disease Type II
Humans
Image Processing, Computer-Assisted
Magnetic Resonance Imaging
Male
Muscle, Skeletal

Access to Document

10.1002/mus.25417

https://www.scopus.com/inward/record.uri?eid=2-s2.0-85012902087&doi=10.1002%2fmus.25417&partnerID=40&md5=e0ea7afcba40b4567f67e22267e44192

Cite this

Pichiecchio, A., Rossi, M., Cinnante, C., Colafati, G. S., De Icco, R., Parini, R., Menni, F., Furlan, F., Burlina, A., Sacchini, M., Donati, M. A., Fecarotta, S., Casa, R. D., Deodato, F., Taurisano, R., & Di Rocco, M. (2017). Muscle MRI of classic infantile pompe patients: Fatty substitution and edema-like changes. Muscle and Nerve, 55(6), 841-848. https://doi.org/10.1002/mus.25417

Muscle MRI of classic infantile pompe patients: Fatty substitution and edema-like changes. / Pichiecchio, A.; Rossi, M.; Cinnante, C.; Colafati, G.S.; De Icco, R.; Parini, R.; Menni, F.; Furlan, F.; Burlina, A.; Sacchini, M.; Donati, M.A.; Fecarotta, S.; Casa, R.D.; Deodato, F.; Taurisano, R.; Di Rocco, M.

In: Muscle and Nerve, Vol. 55, No. 6, 2017, p. 841-848.

Research output: Contribution to journal › Article › peer-review

Pichiecchio, A , Rossi, M , Cinnante, C, Colafati, GS, De Icco, R, Parini, R, Menni, F, Furlan, F, Burlina, A, Sacchini, M, Donati, MA, Fecarotta, S, Casa, RD, Deodato, F, Taurisano, R & Di Rocco, M 2017, 'Muscle MRI of classic infantile pompe patients: Fatty substitution and edema-like changes', Muscle and Nerve, vol. 55, no. 6, pp. 841-848. https://doi.org/10.1002/mus.25417

Pichiecchio, A. ; Rossi, M. ; Cinnante, C. ; Colafati, G.S. ; De Icco, R. ; Parini, R. ; Menni, F. ; Furlan, F. ; Burlina, A. ; Sacchini, M. ; Donati, M.A. ; Fecarotta, S. ; Casa, R.D. ; Deodato, F. ; Taurisano, R. ; Di Rocco, M. / Muscle MRI of classic infantile pompe patients: Fatty substitution and edema-like changes. In: Muscle and Nerve. 2017 ; Vol. 55, No. 6. pp. 841-848.

@article{5dc2728d1dbf427b87a6f45b325b5d37,

title = "Muscle MRI of classic infantile pompe patients: Fatty substitution and edema-like changes",

abstract = "Introduction: The aim of this study was to evaluate the muscle MRI pattern of 9 patients (median age: 6.5 ± 2.74 years) affected by classic infantile-onset Pompe disease who were treated with enzyme replacement therapy. Methods: We performed and qualitatively scored T1-weighted (T1-w) sequences of the facial, shoulder girdle, paravertebral, and lower limb muscles and short-tau inversion recovery (STIR) sequences of the lower limbs using the Mercuri and Morrow scales, respectively. Results: On T1-w images, mild (grade 1) or moderate (grade 2) involvement was found in the tongue in 6 of 6 patients and in the adductor magnus muscle in 6 of 9. STIR hyperintensity was detected in all areas examined and was categorized as limited to mild in 5 of 8 patients. Conclusions: On T1-w sequences, mild/moderate adipose substitution in the adductor magnus and tongue muscles was documented. STIR edema-like alterations of thigh and calf muscles are novel findings. Correlations with biopsy findings and clinical parameters are needed to fully understand these findings. Muscle Nerve 55: 841–848, 2017. {\textcopyright} 2016 Wiley Periodicals, Inc.",

keywords = "glycogenosis II, infantile-onset Pompe disease, muscle MRI, Pompe disease, STIR, T2, adductor magnus muscle, Article, child, clinical article, clinical assessment, clinical evaluation, controlled study, enzyme replacement, female, gastrocnemius muscle, gluteus muscle, glycogen storage disease type 2, human, leg muscle, male, muscle disease, muscle edema, nuclear magnetic resonance imaging, nuclear magnetic resonance scanner, paraspinal muscle, pelvic girdle, preschool child, priority journal, qualitative analysis, school child, semimembranosus muscle, semitendinous muscle, shoulder girdle, tongue, adipose tissue, complication, diagnostic imaging, edema, image processing, pathology, skeletal muscle, Adipose Tissue, Child, Child, Preschool, Edema, Female, Glycogen Storage Disease Type II, Humans, Image Processing, Computer-Assisted, Magnetic Resonance Imaging, Male, Muscle, Skeletal",

author = "A. Pichiecchio and M. Rossi and C. Cinnante and G.S. Colafati and {De Icco}, R. and R. Parini and F. Menni and F. Furlan and A. Burlina and M. Sacchini and M.A. Donati and S. Fecarotta and R.D. Casa and F. Deodato and R. Taurisano and {Di Rocco}, M.",

note = "Cited By :1 Export Date: 30 October 2017 CODEN: MUNED Correspondence Address: Pichiecchio, A.; Neuroradiology Department, C. Mondino National Neurological Institute, Via Mondino, Italy; email: anna.pichiecchio@mondino.it",

year = "2017",

doi = "10.1002/mus.25417",

language = "English",

volume = "55",

pages = "841--848",

journal = "Muscle and Nerve",

issn = "0148-639X",

publisher = "John Wiley and Sons Inc.",

number = "6",

}

TY - JOUR

T1 - Muscle MRI of classic infantile pompe patients: Fatty substitution and edema-like changes

AU - Pichiecchio, A.

AU - Rossi, M.

AU - Cinnante, C.

AU - Colafati, G.S.

AU - De Icco, R.

AU - Parini, R.

AU - Menni, F.

AU - Furlan, F.

AU - Burlina, A.

AU - Sacchini, M.

AU - Donati, M.A.

AU - Fecarotta, S.

AU - Casa, R.D.

AU - Deodato, F.

AU - Taurisano, R.

AU - Di Rocco, M.

N1 - Cited By :1 Export Date: 30 October 2017 CODEN: MUNED Correspondence Address: Pichiecchio, A.; Neuroradiology Department, C. Mondino National Neurological Institute, Via Mondino, Italy; email: anna.pichiecchio@mondino.it

PY - 2017

Y1 - 2017

N2 - Introduction: The aim of this study was to evaluate the muscle MRI pattern of 9 patients (median age: 6.5 ± 2.74 years) affected by classic infantile-onset Pompe disease who were treated with enzyme replacement therapy. Methods: We performed and qualitatively scored T1-weighted (T1-w) sequences of the facial, shoulder girdle, paravertebral, and lower limb muscles and short-tau inversion recovery (STIR) sequences of the lower limbs using the Mercuri and Morrow scales, respectively. Results: On T1-w images, mild (grade 1) or moderate (grade 2) involvement was found in the tongue in 6 of 6 patients and in the adductor magnus muscle in 6 of 9. STIR hyperintensity was detected in all areas examined and was categorized as limited to mild in 5 of 8 patients. Conclusions: On T1-w sequences, mild/moderate adipose substitution in the adductor magnus and tongue muscles was documented. STIR edema-like alterations of thigh and calf muscles are novel findings. Correlations with biopsy findings and clinical parameters are needed to fully understand these findings. Muscle Nerve 55: 841–848, 2017. © 2016 Wiley Periodicals, Inc.

AB - Introduction: The aim of this study was to evaluate the muscle MRI pattern of 9 patients (median age: 6.5 ± 2.74 years) affected by classic infantile-onset Pompe disease who were treated with enzyme replacement therapy. Methods: We performed and qualitatively scored T1-weighted (T1-w) sequences of the facial, shoulder girdle, paravertebral, and lower limb muscles and short-tau inversion recovery (STIR) sequences of the lower limbs using the Mercuri and Morrow scales, respectively. Results: On T1-w images, mild (grade 1) or moderate (grade 2) involvement was found in the tongue in 6 of 6 patients and in the adductor magnus muscle in 6 of 9. STIR hyperintensity was detected in all areas examined and was categorized as limited to mild in 5 of 8 patients. Conclusions: On T1-w sequences, mild/moderate adipose substitution in the adductor magnus and tongue muscles was documented. STIR edema-like alterations of thigh and calf muscles are novel findings. Correlations with biopsy findings and clinical parameters are needed to fully understand these findings. Muscle Nerve 55: 841–848, 2017. © 2016 Wiley Periodicals, Inc.

KW - glycogenosis II

KW - infantile-onset Pompe disease

KW - muscle MRI

KW - Pompe disease

KW - STIR

KW - T2

KW - adductor magnus muscle

KW - Article

KW - child

KW - clinical article

KW - clinical assessment

KW - clinical evaluation

KW - controlled study

KW - enzyme replacement

KW - female

KW - gastrocnemius muscle

KW - gluteus muscle

KW - glycogen storage disease type 2

KW - human

KW - leg muscle

KW - male

KW - muscle disease

KW - muscle edema

KW - nuclear magnetic resonance imaging

KW - nuclear magnetic resonance scanner

KW - paraspinal muscle

KW - pelvic girdle

KW - preschool child

KW - priority journal

KW - qualitative analysis

KW - school child

KW - semimembranosus muscle

KW - semitendinous muscle

KW - shoulder girdle

KW - tongue

KW - adipose tissue

KW - complication

KW - diagnostic imaging

KW - edema

KW - image processing

KW - pathology

KW - skeletal muscle

KW - Adipose Tissue

KW - Child

KW - Child, Preschool

KW - Edema

KW - Female

KW - Glycogen Storage Disease Type II

KW - Humans

KW - Image Processing, Computer-Assisted

KW - Magnetic Resonance Imaging

KW - Male

KW - Muscle, Skeletal

U2 - 10.1002/mus.25417

DO - 10.1002/mus.25417

M3 - Article

VL - 55

SP - 841

EP - 848

JO - Muscle and Nerve

JF - Muscle and Nerve

SN - 0148-639X

IS - 6

ER -

Muscle MRI of classic infantile pompe patients: Fatty substitution and edema-like changes

Abstract

Keywords

Access to Document

Fingerprint

Cite this