ORIGINAL ARTICLE
Fractures in children with Pompe disease: a potential
long-term complication
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
Received: 16 September 2006 / Revised: 28 December 2006 / Accepted: 29 January 2007 / Published online: 7 March 2007
#
Springer-Verlag 2007
Abstract
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
α-glucosidase (GAA). Classic infantile-onset disease, char-
acterized 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 (Myo-
zyme), 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.
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 We review 19 fractures in 14 children with Pompe
disease on ERT.
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.
Keywords Pompe disease
.
Fracture
.
Bone density
.
Radiography
.
Weight bearing
.
Children
Introduction
Pompe disease, also known as glycogen storage disease type
II or acid maltase deficiency, is an autosomal recessive
disorder caused by deficiency of the lysosomal enzyme acid
α-glucosidase (GAA). The estimated incidence of Pompe
disease across the disease spectrum (infantile and late-onset)
Pediatr Radiol (2007) 37:437–445
DOI 10.1007/s00247-007-0428-y
Laura E. Case and Rabi Hanna contributed equally to this study.
L. E. Case
Division of Physical Therapy, Department of Community and
Family Medicine, Duke University Medical Center,
Durham, NC, USA
R. Hanna
:
S. DeArmey
:
J. Mackey
:
A. Boney
:
Y-T. Chen
:
P. S. Kishnani (*)
Department of Pediatrics, Duke University Medical Center,
Durham, NC 27710, USA
e-mail: kishn001@mc.duke.edu
D. P. Frush
Department of Radiology, Duke University Medical Center,
Durham, NC, USA
C. Morgan
:
S. Bouchard
Pharmacovigilance, Genzyme Corporation,
Cambridge, MA, USA
D. Corzo
Genzyme Corporation,
Cambridge, MA, USA
T. J. Weber
Department of Medicine, Duke University Medical Center,
Durham, NC, USA
V. Krishnamurthy
Department of Pediatrics and Department of Medicine,
Duke University Medical Center,
Durham, NC 27710, USA