Quiz Form

Question Date: 02/07/2023

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?

Options:

• SIP1
• TIF1
• KCNQ2
• STXB1

Correct Answer: SIP1

Explaination: 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.

Reference: Garavelli, L. et al. Neuroimaging findings in Mowat?Wilson syndrome: a study of 54 patients. Genet Med 19, 691?700 (2017).