TY - JOUR
T1 - A floppy baby
AU - Hebert, Katherine
AU - Haritos, Demetris
AU - Kannikeswaran, Nirupama
N1 - Publisher Copyright:
© 2015 Wolters Kluwer Health, Inc.
PY - 2015/6/13
Y1 - 2015/6/13
N2 - Pompe disease is a rare inherited disorder of glycogen metabolism. We present a case of a 9-month-old infant who presented to the emergency department with generalized hypotonia and respiratory distress and was found to have Pompe disease. In this article, we will review the differential diagnosis of hypotonia in the infant, presentations of hypotonia that are relevant to the emergency department physician, as well as the diagnosis, management, and prognosis of Pompe disease.
AB - Pompe disease is a rare inherited disorder of glycogen metabolism. We present a case of a 9-month-old infant who presented to the emergency department with generalized hypotonia and respiratory distress and was found to have Pompe disease. In this article, we will review the differential diagnosis of hypotonia in the infant, presentations of hypotonia that are relevant to the emergency department physician, as well as the diagnosis, management, and prognosis of Pompe disease.
KW - Pompe disease
KW - hypotonia
KW - lysosomal storage disease
UR - http://www.scopus.com/inward/record.url?scp=84930911252&partnerID=8YFLogxK
U2 - 10.1097/PEC.0000000000000458
DO - 10.1097/PEC.0000000000000458
M3 - Review article
C2 - 26035495
AN - SCOPUS:84930911252
VL - 31
SP - 419
EP - 421
JO - Pediatric Emergency Care
JF - Pediatric Emergency Care
SN - 0749-5161
IS - 6
ER -