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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.