Case Study: Siblings With Hypotonia in All Limbs

October 3, 2017

Pravin Lakum , Ketan Rathod , Ketan Rathod, MD , Amit Ban , Nandini Bahri, MD

Two young siblings presented to the pediatric department with mental retardation, developmental delay, ataxia, and nystagmus since birth. What's your diagnosis after reviewing the case?