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.

Xanthomatosis

The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.


合計: 3

                       


（表示件数）
PMID (PMCID)
27967296
 MALE Infant
New JAG1 Mutation Causing Alagille Syndrome Presenting With Severe Hypercholesterolemia: Case Report With Emphasis on Genetics and Lipid Abnormalities.
Hannoush ZC, Puerta H, Bauer MS, Goldberg RB.
J Clin Endocrinol Metab. 2017;102(2):350-353.
Here, we report a unique case of a patient diagnosed with Alagille syndrome who was found to have a previously undescribed frameshift pathogenic mutation in the JAG1 gene and who presented with xanthomatosis and levels of hypercholesterolemia more than 2 times higher than those previously reported in the literature.
1981431
 FEMALE
Alagille syndrome. A case report.
Nigale V, Trasi SS, Khopkar US, Wadhwa SL, Nadkarni NJ.
Acta Derm Venereol. 1990;70(6):521-3.
A diagnosis of Watson-Alagille Syndrome was made on the basis of characteristic facies, xanthomatosis and cholestatic jaundice.
6806523
 MIXED_SAMPLE Child
[Clinical picture and inheritance of ocular symptoms in arteriohepatic dysplasia (author's transl)].
Mayer U, Grosse KP.
Klin Monbl Augenheilkd. 1982;180(4):290-3.
Systematic examination of four children suffering from arteriohepatic dysplasia and of members of their families revealed with diminishing frequency, the following symptoms: icterus episcleralis, posterior embryotoxon, gray-yellowish precipitations in the retina, microphthalmos, corectopia with rudimentary coloboma of the iris, xanthomatosis retinae and atrophy of the optic nerve.