Quiz Form
Quiz Form
Quiz Listing
Edit Question
1
2
3
Question Date
*
Please select a valid date.
Question
*
5 year old boy was posted for surgery of aganglionic megacolon. A neurology consult was asked for intellectual disability and history of seizures. Neurological examination showed exotropia. MRI brain showed corpus callosal agenesis. Which is the genetic defect suspected in this child?
Explanation
*
Mowat?Wilson syndrome (MWS) is a genetic disease characterized by distinctive facial features, moderate to severe intellectual disability, and congenital malformations, including Hirschsprung disease, genital and eye anomalies, and congenital heart defects, caused by haploinsufficiency of the ZEB2 gene/SIP1. Most common MRI abnormality is corpus callosal agenesis.
Explanation Image Upload:
(JPG / JPEG / PNG Upto 2 MB only)
Reference
*
Garavelli, L. et al. Neuroimaging findings in Mowat?Wilson syndrome: a study of 54 patients. Genet Med 19, 691?700 (2017).
Reference Image Upload:
(JPG / JPEG / PNG Upto 2 MB only)
Question Image Upload:
(JPG / JPEG / PNG Upto 2 MB only)
Video Upload:
(MP4 / Upto 10 MB only)
Option 1
*
Is Correct (Option 1):
SIP1
Option 1 Image Upload:
(JPG / JPEG / PNG Upto 2 MB only)
Option 2
*
Is Correct (Option 2):
TIF1
Option 2 Image Upload:
(JPG / JPEG / PNG Upto 2 MB only)
Option 3
*
Is Correct (Option 3):
KCNQ2
Option 3 Image Upload:
(JPG / JPEG / PNG Upto 2 MB only)
Option 4
*
Is Correct (Option 4):
STXB1
Option 4 Image Upload:
(JPG / JPEG / PNG Upto 2 MB only)
