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.

Hepatosplenomegaly

Simultaneous enlargement of the liver and spleen.


合計: 2

                       


（表示件数）
PMID (PMCID)
29187043
 MALE Infant, Newborn
An Atypical Presentation of Alagille Syndrome.
Wu KY, Treece AL, Russo PA, Wen JW.
Pediatr Dev Pathol. 2018;21(1):79-83.
This case highlights that there may be both atypical clinical and pathologic findings in mutation-proven Alagille syndrome and that the diagnosis of Alagille syndrome should be considered in cases of ongoing bile duct damage in the setting of early-onset jaundice, cholestasis, hepatosplenomegaly, posterior embryotoxon in the eyes, and butterfly vertebrae.
29187043
 MALE Infant, Newborn
An Atypical Presentation of Alagille Syndrome.
Wu KY, Treece AL, Russo PA, Wen JW.
Pediatr Dev Pathol. 2018;21(1):79-83.
This case highlights that there may be both atypical clinical and pathologic findings in mutation-proven Alagille syndrome and that the diagnosis of Alagille syndrome should be considered in cases of ongoing bile duct damage in the setting of early-onset jaundice, cholestasis, hepatosplenomegaly, posterior embryotoxon in the eyes, and butterfly vertebrae.