A seizuring alagille syndrome

A seizuring alagille syndrome

Blog Article

Alagille syndrome is a rare autosomal dominant inherited disorder with incidence of one in 100,000 live births.This syndrome with Disposables seizure as a presentation has been rarely reported in Indian studies.We present a 3-month-old infant who presented to us with seizures was found to have a dysmorphic face, jaundice, hepatomegaly, and soft systolic murmur.Infant was stabilized and remained Grinders seizure free.A detailed clinical evaluation of a common presentation may reveal a rare syndrome.