A seizuring alagille syndrome
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 fa...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2017-01-01
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| Series: | Medical Journal of Dr. D.Y. Patil University |
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| Online Access: | http://www.mjdrdypu.org/article.asp?issn=0975-2870;year=2017;volume=10;issue=5;spage=473;epage=475;aulast=John |
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doaj-33fc87c8f89643359988c9287a8eae2c2020-11-25T02:34:02ZengWolters Kluwer Medknow PublicationsMedical Journal of Dr. D.Y. Patil University0975-28702017-01-0110547347510.4103/MJDRDYPU.MJDRDYPU_248_16A seizuring alagille syndromeJomon Mathew JohnAlagille 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.http://www.mjdrdypu.org/article.asp?issn=0975-2870;year=2017;volume=10;issue=5;spage=473;epage=475;aulast=JohnArteriohepatic dysplasiaconjugated hyperbilirubinemiaseizures |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Jomon Mathew John |
| spellingShingle |
Jomon Mathew John A seizuring alagille syndrome Medical Journal of Dr. D.Y. Patil University Arteriohepatic dysplasia conjugated hyperbilirubinemia seizures |
| author_facet |
Jomon Mathew John |
| author_sort |
Jomon Mathew John |
| title |
A seizuring alagille syndrome |
| title_short |
A seizuring alagille syndrome |
| title_full |
A seizuring alagille syndrome |
| title_fullStr |
A seizuring alagille syndrome |
| title_full_unstemmed |
A seizuring alagille syndrome |
| title_sort |
seizuring alagille syndrome |
| publisher |
Wolters Kluwer Medknow Publications |
| series |
Medical Journal of Dr. D.Y. Patil University |
| issn |
0975-2870 |
| publishDate |
2017-01-01 |
| description |
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. |
| topic |
Arteriohepatic dysplasia conjugated hyperbilirubinemia seizures |
| url |
http://www.mjdrdypu.org/article.asp?issn=0975-2870;year=2017;volume=10;issue=5;spage=473;epage=475;aulast=John |
| work_keys_str_mv |
AT jomonmathewjohn aseizuringalagillesyndrome AT jomonmathewjohn seizuringalagillesyndrome |
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1724810603056332800 |