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.

Papilledema

Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure.


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PMID (PMCID)
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.