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Mucopolysaccharidoses
Author:
Pediatric Oncall
Question
A 4-year-old boy 2nd born of third-degree consanguineous marriage presented with cough and breathlessness for 10 days. He was operated on for an inguinal hernia at 4 months of age and was treated for rickets in view of skeletal deformities. Milestones are normal. On examination, he had bronchospasm, a large head, short stature, dysostosis multiplex, umbilical hernia, corneal clouding, and hepatosplenomegaly. Other systems were normal. Chest X-Ray showed oar-shaped ribs and he had bullet-shaped phalanges. He was suspected of a case of Mucopolysaccharidoses (MPS). Echocardiography showed infiltrative cardiomyopathy with mild mitral valve and aortic valve prolapse with mitral regurgitation.
What additional complications should one screen for?
What additional complications should one screen for?
Answer Discussion :
No answer discussion available.
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Disease A-Z
Health Topics
Developmental Pediatrics
General Pediatrics
Genetics
Immunodeficiencies
Infectious Diseases
Laboratory Medicine
Neonatology
Nutrition
Pediatric Cardiology
Pediatric Dermatology
View all topics
Featured Articles
Anaphylaxis
Skin allergies
Anal fissure
Diabetic ketoacidosis
Urticaria (hives) and angioedema
Circumcision
Kids Corner
Drugs & Calculators
Medical Calculators
Drug Calculators
Genetic Calculators
Growth Calculators
View all Calculators
Drug Index
ACE inhibitor
Alkylating agents
Allergies
View all Drugs
Poisoning Center
Aluminum phosphide
Anti-histaminics
Antidepressants
View all Drugs
Medical Eqipments
Monitors
Pumps
Incubators
View all Eqipments
Diagnostic Aid
Consult & Posts
Ask a Doctor
Diagnostic Dilemma
Question of the Week
Pediatric Blogs
Spot Diagnosis
Grand Rounds
Pedi Poll
Pediatric Oncall Journal
Current Issue
All Issues
Advance Access
About the Journal
Submit Article
Books & Apps
Book Store
Pediatric Oncall
Medical Calculators
Vaccine Reminder
Pediatric Oncall Journal
Drug Center
Parenting
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Upcoming Conferences
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Videos
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