CASE REPORT |
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Year : 2017 | Volume
: 10
| Issue : 5 | Page : 473-475 |
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A seizuring alagille syndrome
Jomon Mathew John
Department of Paediatrics, Malankara Orthodox Syrian Church Medical College, Kolenchery, Kerala, India
Correspondence Address:
Jomon Mathew John Karimarathinal, 44/2398, Santhipuram Road, Palarivattom, Ernakulam - 682 025, Kerala India
Source of Support: None, Conflict of Interest: None | Check |
DOI: 10.4103/MJDRDYPU.MJDRDYPU_248_16
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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.
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