Open AccessA seizuring alagille syndrome
Author(s) -
Jomon Mathew John
Publication year - 2017
Publication title -
medical journal of dr. d y patil university/medical journal of dr. d.y. patil university
Language(s) - English
Resource type - Journals
eISSN - 2278-7119
pISSN - 0975-2870
DOI - 10.4103/mjdrdypu.mjdrdypu_248_16
Subject(s) - alagille syndrome , presentation (obstetrics) , pediatrics , jaundice , medicine , incidence (geometry) , congenital disorder , surgery , cholestasis , physics , optics
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