A seizuring alagille syndrome

oleh: Jomon Mathew John

Format: Article
Diterbitkan: Wolters Kluwer Medknow Publications 2017-01-01

Deskripsi

Alagille syndrome is a rare autosomal dominant inherited disorder with incidence of one in 100,000 live births. This syndrome with 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 seizure free. A detailed clinical evaluation of a common presentation may reveal a rare syndrome.