Metabolic- Lysosomal Storage Disorders

Portable Peds

Today we’ll be covering Lysosomal Storage Disorders, going along with this month’s theme, Metabolic Disorders. If you haven’t listened to our podcast before, each week we have a case-based discussion about a medical topic to help you study for the pediatric medicine board exam. Episodes are released every weekend, and the case is then reviewed and reinforced on social media throughout the week.

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Today’s Case:

A worried mother presents to your outpatient pediatric office with her 2 and a half year old son after scrapbooking during her free time in the pandemic. She states that he has overall been healthy without concern and because of the pandemic, they have not been in to see you for over a year. She became concerned a few days ago when she noticed that compared to previous pictures, her son’s nose, tongue, lips, cheeks, and head have become bigger and he seems more “stiff” than before. On your exam, you note an inguinal hernia on the right, hepatomegaly, stiff joints, coarse facial features, and an unremarkable ophthalmologic exam. CBC in your lab is unremarkable. Which disease and appropriately paired genetic inheritance pattern are you most suspicious of?

1. Hurler syndrome, X-linked recessive inheritance
2. Hunter syndrome, X-linked recessive inheritance
3. Tay-Sachs disease, Autosomal recessive inheritance
4. Gaucher disease, Autosomal recessive inheritance
5. Niemann-Pick Disease, X-linked recessive inheritance

We would like to give an enormous thank you to Zack Goldmann for designing this podcast’s logo and accompanying artwork. You can find more of his work at www.zackgoldmann.com.

The intro and outro of this podcast is a public domain song obtained from scottholmesmusic.com.

Intro/Outro- Hotshot by Scott Holmes

Disclaimer:

This podcast is intended for healthcare professionals. The information presented is for general educational purposes only and should NOT be used as professional medical advice or for the diagnosis or treatment of medical conditions.

The views and opinions expressed do not represent the views and opinions of our employer or any affiliated institution. Expressed opinions are based on specific facts, under certain conditions, and subject to certain assumptions and should not be used or relied upon for any other purpose, including, but not limited to, the diagnosis or treatment of medical conditions or in any legal proceeding. Full terms and conditions can be found at portablepeds.com.

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