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.

Cafe-au-lait spot

Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.

Total: 2

(per page)

PMID (PMCID)
27906097 (5134282)	MALE	Child
	A 10-year-old child presenting with syndromic paucity of bile ducts (Alagille syndrome): a case report.
	Pati GK, Singh A, Nath P, Narayan J, Padhi PK, Parida PK, Pattnaik K, Panda C, Singh SP. J Med Case Rep. 2016;10(1):342.
	We believe that we report what could be the first case of Alagille syndrome presenting with cafe au lait spots, as no such published case report could be found in the literature.
27906097 (5134282)	MALE	Child
	A 10-year-old child presenting with syndromic paucity of bile ducts (Alagille syndrome): a case report.
	Pati GK, Singh A, Nath P, Narayan J, Padhi PK, Parida PK, Pattnaik K, Panda C, Singh SP. J Med Case Rep. 2016;10(1):342.
	Our case is notable because the child had cafe au lait spots and very early onset of chronic liver disease, which is quite rare in Alagille syndrome.