Fractures in children with Pompe disease: a potential long-term complication.
BACKGROUND
Pompe disease (glycogen storage disease type II or acid maltase deficiency) is an autosomal recessive disorder caused by deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). Classic infantile-onset disease, characterized by cardiomegaly and profound weakness, leads to death in the first year of life from cardiorespiratory failure. Reversal of cardiomyopathy and improved motor function have been shown in clinical trials of rhGAA enzyme replacement therapy (ERT) with alglucosidase alfa (Myozyme), recently approved for clinical use. Increased survival potentially unmasks long-term complications of this previously lethal disease, including risk of skeletal fracture, recently identified at our institution and not previously reported in children with Pompe disease.


OBJECTIVE
To report the risk of fracture in children with Pompe disease with increased survival with ERT.


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
We review 19 fractures in 14 children with Pompe disease on ERT.


CONCLUSIONS
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.
Case
Laura E
LE
Division of Physical Therapy, Department of Community and Family Medicine, Duke University Medical Center, Durham, NC, USA.
Hanna
Rabi
R
Frush
Donald P
DP
Krishnamurthy
Vidya
V
DeArmey
Stephanie
S
Mackey
Joanne
J
Boney
Anne
A
Morgan
Claire
C
Corzo
Deyanira
D
Bouchard
Susan
S
Weber
Thomas J
TJ
Chen
Yuan-Tsong
YT
Kishnani
Priya S
PS
D015519:Bone Density; D005269:Femur / Q000000981:diagnostic imaging / Q000293:injuries; D005598:Fractures, Spontaneous / Q000150:complications* / Q000175:diagnosis*; D020022:Genetic Predisposition to Disease; D006009:Glycogen Storage Disease Type II / Q000150:complications* / Q000188:drug therapy / Q000201:enzymology; D006801:Humans; D006811:Humerus / Q000000981:diagnostic imaging / Q000293:injuries; D007223:Infant; D008297:Male; D009043:Motor Activity / Q000187:drug effects; D011859:Radiography; D012307:Risk Factors; D013977:Tibia / Q000000981:diagnostic imaging / Q000293:injuries; D013995:Time; D016474:Weight-Bearing; D000520:alpha-Glucosidases / Q000627:therapeutic use
C509951:GAA protein, human; D000520:alpha-Glucosidases