Alagille syndrome

A rare syndrome variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys.

Increased intracranial pressure

An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.


Total: 3

                       


(per page)
PMID (PMCID)
23337010
 MALE
The association of Alagille syndrome and craniosynostosis.
Yilmaz S, Turhan T, Mutluer S, Aydogdu S.
Pediatr Neurol. 2013;48(2):146-8.
We report a child with Alagille syndrome and craniosynostosis who presented with pruritus, elevated liver enzymes, and suspected increased intracranial pressure.
23337010
 MALE
The association of Alagille syndrome and craniosynostosis.
Yilmaz S, Turhan T, Mutluer S, Aydogdu S.
Pediatr Neurol. 2013;48(2):146-8.
Alagille syndrome is associated with various ocular abnormalities, including pseudopapilledema or optic disk edema due to increased intracranial pressure.
20501886
 MIXED_SAMPLE Infant
Idiopathic intracranial hypertension in two patients with Alagille syndrome.
Mouzaki M, Nichter C, Qureshi M, Rountree B, Furuya KN.
J Child Neurol. 2010;25(8):1006-8.
The authors present 2 patients with Alagille syndrome who, before the age of 3 years old, developed idiopathic intracranial hypertension with documented increased intracranial pressure by lumbar puncture and papilledema, which was responsive to acetazolamide.