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

Anna Pichiecchio; Marta Rossi; Claudia Cinnante; Giovanna Stefania Colafati; Roberto De Icco; Rossella Parini; Francesca Menni; Francesca Furlan; Alberto B. Burlina; Michele Sacchini; Maria Alice Donati; Simona Fecarotta; Roberto Della Casa; Federica Deodato; Roberta Taurisano; Maja Di Rocco

doi:10.1002/mus.25417

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

Anna Pichiecchio, Marta Rossi, Claudia Cinnante, Giovanna Stefania Colafati, Roberto De Icco, Rossella Parini, Francesca Menni, Francesca Furlan, Alberto B. Burlina, Michele Sacchini, Maria Alice Donati, Simona Fecarotta, Roberto Della Casa, Federica Deodato, Roberta Taurisano, Maja 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, 2016.

Original language	English
Journal	Muscle and Nerve
DOIs	https://doi.org/10.1002/mus.25417
Publication status	E-pub ahead of print - Sept 26 2016

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Pichiecchio, A., Rossi, M., Cinnante, C., Colafati, G. S., De Icco, R., Parini, R., Menni, F., Furlan, F., Burlina, A. B., Sacchini, M., Donati, M. A., Fecarotta, S., Casa, R. D., Deodato, F., Taurisano, R., & Di Rocco, M. (2016). Muscle MRI of classic infantile pompe patients: Fatty substitution and edema-like changes. Muscle and Nerve. https://doi.org/10.1002/mus.25417

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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, 2016.",

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author = "Anna Pichiecchio and Marta Rossi and Claudia Cinnante and Colafati, {Giovanna Stefania} and {De Icco}, Roberto and Rossella Parini and Francesca Menni and Francesca Furlan and Burlina, {Alberto B.} and Michele Sacchini and Donati, {Maria Alice} and Simona Fecarotta and Casa, {Roberto Della} and Federica Deodato and Roberta Taurisano and {Di Rocco}, Maja",

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doi = "10.1002/mus.25417",

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TY - JOUR

T1 - Muscle MRI of classic infantile pompe patients

T2 - Fatty substitution and edema-like changes

AU - Pichiecchio, Anna

AU - Rossi, Marta

AU - Cinnante, Claudia

AU - Colafati, Giovanna Stefania

AU - De Icco, Roberto

AU - Parini, Rossella

AU - Menni, Francesca

AU - Furlan, Francesca

AU - Burlina, Alberto B.

AU - Sacchini, Michele

AU - Donati, Maria Alice

AU - Fecarotta, Simona

AU - Casa, Roberto Della

AU - Deodato, Federica

AU - Taurisano, Roberta

AU - Di Rocco, Maja

PY - 2016/9/26

Y1 - 2016/9/26

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, 2016.

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, 2016.

KW - Journal Article

U2 - 10.1002/mus.25417

DO - 10.1002/mus.25417

M3 - Article

C2 - 27668838

SN - 0148-639X

JO - Muscle and Nerve

JF - Muscle and Nerve

ER -

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

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