Today we are talking about one of the most important causes of neonatal cholestasis : Allagile syndrome.

Allagile syndrome

It is the most common syndrome with intrahepatic bile duct paucity

Clinical manifestations

Facies 

Broad forehead,deep_set widely spaced eyes

Long staight nose and underdeveloped madible.

Ocular

Posterior embryotoxon

Shallow anterior chamber

Microcornea

Cardiovascular

ASD,VSD

Aortic coarctation

Pulmonary stenosis or atresia

Tetralogy of Fallot

Vertebral

Butterfly vertebrae

Spina bifida occulta

Rib anomaly

Renal

Tubulointerstitial nephropathy 

Git

Pancreatic insufficiency

Endocrine

Short stature

Genital

Defective spermatogenesis

Skin

Pruritus,xanthoma,itching

Labs

Increase  total and Direct serum bilirubin >20%of the total serum bilirubin

Deficiency of the fat soluble vitamins (k,E,D,A)

Treatment

VIT (K,E,D,A)

Medium chain triglycerides

Ursodeoxycholic acid 

These are supportive treatment but the accurate one is liver transplantation