Hypotonia + Jaundice + Seizures + MR - USMLE Forums
USMLE Forums Logo
USMLE Forums         Your Reliable USMLE Online Community     Members     Posts
USMLE Articles
Go Back   USMLE Forums > USMLE Step 1 Forum > USMLE Step 1 High Yield > USMLE Step 1 Classic Clues

USMLE Step 1 Classic Clues Classic clues seen in clinical case scenarios in USMLE Step 1 questions.

Thread Tools Search this Thread Display Modes
Old 01-03-2010
USMLE Forums Master
Steps History: 1+CK+CS+3
Posts: 742
Threads: 137
Thanked 2,460 Times in 441 Posts
Reputation: 2563
Kids Hypotonia + Jaundice + Seizures + MR

If the case indicates an infant who shortly after birth develops jaundice, hepatomegaly, intractable seizures, facial abnormalities, hypotonia, developmental delay and later mental retardation, vision and hearing abnormalities, and deterioration of renal function then we have to think of Zellweger syndrome.

Zellweger syndrome is an autosomal recessive disorder in which there's abnormal development of peroxisomes which are the cellular organelles responsible for beta oxidation of very long chain fatty acids.
Reply With Quote Quick reply to this message
The above post was thanked by:
avinash2102 (03-06-2012), Cardioniks (08-28-2013), CHAKRAM (12-03-2011), chulady (02-03-2011), cshekar987 (12-15-2012), dinosaur108 (09-23-2011), dr.rick (12-03-2012), drgabroomunda (05-19-2011), Farrukh Munir (11-15-2011), ferasjk (05-06-2013), koolkiller88 (04-30-2012), magzoub (02-06-2010), mleprep (09-18-2011), Muhammad Majid (12-01-2014), pgiarraffa (01-08-2012), pjprabu (09-30-2012), prionchatterjee (10-16-2010), qingjie87 (04-11-2010), rashi krishnan (01-28-2013), ratung (05-08-2012), renew (08-07-2011), riya10 (08-04-2011), romena (11-10-2012), shanix7 (11-20-2014), sm3356 (08-29-2015), syed amer ahmed (02-25-2012), tahir (01-01-2011), Taiwan_Guy (05-19-2011), Usmle16Forall (06-18-2016), wahaha007 (01-10-2010), water (12-04-2012), Yaya (12-17-2013)

Old 11-29-2011
USMLE Forums Scout
Steps History: Not yet
Posts: 19
Threads: 0
Thanked 9 Times in 6 Posts
Reputation: 19
Send a message via Yahoo to drgabroomunda

Cerebrohepatorenal syndrome
Reply With Quote Quick reply to this message
The above post was thanked by:
arjun karri (07-03-2014), shanix7 (11-20-2014), Usmle16Forall (06-18-2016)


Biochemistry-, Pediatrics-, Syndromes-Acronyms

Quick Reply

Register Now

In order to be able to post messages on the USMLE Forums forums, you must first register.
Please enter your desired user name, your email address and other required details in the form below.
User Name:
Please enter a password for your user account. Note that passwords are case-sensitive.
Confirm Password:
Email Address
Please enter a valid email address for yourself.
Email Address:
Medical School
Choose "---" if you don't want to tell. AMG for US & Canadian medical schools. IMG for all other medical schools.
USMLE Steps History
What steps finished! Example: 1+CK+CS+3 = Passed Step 1, Step 2 CK, Step 2 CS, and Step 3.

Choose "---" if you don't want to tell.

Favorite USMLE Books
What USMLE books you really think are useful. Leave blank if you don't want to tell.
Where you live. Leave blank if you don't want to tell.


Human Verification

In order to verify that you are a human and not a spam bot, please enter the answer into the following box below based on the instructions contained in the graphic.

Thread Tools Search this Thread
Search this Thread:

Advanced Search
Display Modes

Similar Threads
Thread Thread Starter Forum Replies Last Post
The cause of this jaundice FreakingOut USMLE Step 1 Forum 5 04-10-2013 09:32 PM
Courvoisier Law and the Pain - Jaundice combination lee-usmle USMLE Step 2 CK Bits & Pieces 1 06-08-2010 03:15 PM
breast milk jaundice sharvaree19 USMLE Step 2 CK Forum 1 04-11-2010 07:59 AM
Gall Bladder Pain Jaundice Combinations wonder USMLE Step 1 Forum 2 12-21-2009 07:08 PM
Jaundice Cataract after birth Sarah-cali USMLE Step 1 Classic Clues 1 07-27-2009 08:52 PM

RSS Feed
Find Us on Facebook
vBulletin Security provided by vBSecurity v2.2.2 (Pro) - vBulletin Mods & Addons Copyright © 2017 DragonByte Technologies Ltd.

USMLE® & other trade marks belong to their respective owners, read full disclaimer
USMLE Forums created under Creative Commons 3.0 License. (2009-2014)