A floppy baby

Katherine Hebert, Demetris Haritos, Nirupama Kannikeswaran

Research output: Contribution to journalReview articlepeer-review

4 Scopus citations

Abstract

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.

Original languageEnglish
Pages (from-to)419-421
Number of pages3
JournalPediatric Emergency Care
Volume31
Issue number6
DOIs
StatePublished - Jun 13 2015

Keywords

  • Pompe disease
  • hypotonia
  • lysosomal storage disease

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