The Association of Alagille Syndrome and Craniosynostosis

Alagille syndrome is associated with various ocular abnormalities, including pseudopapilledema or optic disk edema due to increased intracranial pressure. Several mechanisms have been proposed to explain the mechanism of intracranial hypertension in Alagille syndrome. Craniosynostosis is an unusual...

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Vydáno v:Pediatric neurology Ročník 48; číslo 2; s. 146 - 148
Hlavní autoři: Yilmaz, Sanem, Turhan, Tuncer, Mutluer, Saffet, Aydogdu, Sema
Médium: Journal Article
Jazyk:angličtina
Vydáno: United States Elsevier Inc 01.02.2013
Témata:
Alagille syndrome
Alagille Syndrome - complications
Animal models
Child, Preschool
Cranial Sutures
Craniosynostoses - complications
Craniosynostoses - surgery
Craniosynostosis
Edema
Enzymes
Humans
Hypertension
Jagged1 protein
Liver
Male
Mutation
Neurology
Optics
Pediatrics
pruritus
Pruritus - complications
Skull
Sutures
ISSN:0887-8994, 1873-5150, 1873-5150
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Popis
Shrnutí:Alagille syndrome is associated with various ocular abnormalities, including pseudopapilledema or optic disk edema due to increased intracranial pressure. Several mechanisms have been proposed to explain the mechanism of intracranial hypertension in Alagille syndrome. Craniosynostosis is an unusual but significant cause of increased intracranial hypertension in Alagille syndrome. It has recently been demonstrated in animal models that Jagged1 gene in which mutations are responsible for Alagille syndrome may also take part in cranial suture formation. We report a child with Alagille syndrome and craniosynostosis who presented with pruritus, elevated liver enzymes, and suspected increased intracranial pressure.
Bibliografie:ObjectType-Case Study-2
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ISSN:0887-8994
1873-5150
1873-5150
DOI:10.1016/j.pediatrneurol.2012.10.014