Publication: Pompe Disease: Cyanosed Hypotonic Infant with Normal Respiratory Rate
Date
2015
Authors
Journal Title
Journal ISSN
Volume Title
Publisher
Kathmandu University
Abstract
ABSTRACT
Infantile hypotonia or floppy infant is a diagnostic challenge when it presents with
other presenting complaints such as fever, cough or diarrhea. Many times the
hypotonia goes unnoticed when other symptom covers the hypotonia and child
continues to receive the treatment for other symptoms. We report a rare case
from Nepal of infantile Pompe disease who presented with the history of fever and
cough in the recent earthquake disaster camp at remote part of Sindhupalchowk,
Nepal. He was being treated as a case of pneumonia.
Pompe disease can be diagnosed clinically by taking detailed history and correlating
the clinical findings during the presentation with other symptoms. In our case the
normal respiratory rate, reduced Spo2 and presence of crackles dominated the
hypotonia and was mistreated as pneumonia. High index of suspicion is necessary
in diagnosing Pompe disease.
KEY WORDS
Developmental delay, hypertrophic cardiomyopathy, hypotonia, normal respiratory
rate, pompe disease
Description
Koirala S, Poudel A, Basnet R, Subedi K
Department of Paediatrics
Kathmandu Medical College
Sinamangal, Kathmandu
Keywords
Developmental delay, Hypertrophic cardiomyopathy, Hypotonia, Normal respiratory rate, Pompe disease