Abstract | BACKGROUND: OBJECTIVE: To report the risk of fracture in children with Pompe disease with increased survival with ERT. MATERIALS AND METHODS: We present four cases of fracture in patients with classic infantile Pompe disease treated with ERT at our institution, and review a study database for additional reports of fracture in this population. RESULTS: CONCLUSION: Radiologists should be familiar with and vigilant for the association of fractures and increased survival on ERT in children with Pompe disease. We discuss potential mechanisms, implications for radiographic surveillance, potential intervention, and needs for further research.
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Authors | Laura E Case, Rabi Hanna, Donald P Frush, Vidya Krishnamurthy, Stephanie DeArmey, Joanne Mackey, Anne Boney, Claire Morgan, Deyanira Corzo, Susan Bouchard, Thomas J Weber, Yuan-Tsong Chen, Priya S Kishnani |
Journal | Pediatric radiology
(Pediatr Radiol)
Vol. 37
Issue 5
Pg. 437-45
(May 2007)
ISSN: 0301-0449 [Print] Germany |
PMID | 17342521
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- GAA protein, human
- alpha-Glucosidases
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Topics |
- Bone Density
- Femur
(diagnostic imaging, injuries)
- Fractures, Spontaneous
(complications, diagnosis)
- Genetic Predisposition to Disease
- Glycogen Storage Disease Type II
(complications, drug therapy, enzymology)
- Humans
- Humerus
(diagnostic imaging, injuries)
- Infant
- Male
- Motor Activity
(drug effects)
- Radiography
- Risk Factors
- Tibia
(diagnostic imaging, injuries)
- Time
- Weight-Bearing
- alpha-Glucosidases
(therapeutic use)
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