A 16-year-old male with no personal or family history of disease.
platelet count and diagnosis of liver cirrhosis.
Physical examination revealed the presence of multiple maculae "milk coffee" distributed mainly on the trunk (with a size of 1 cm) and marked stenosis.
Analytical: leukocytes 3,700/mm3; platelets 52,000/mm3; creatinine 0,76 mg/dl; uremia 26 mg/dl; prothrombin activity 100% (v.n.
70-110); AST 30 U/l (v.n. up to 40); ALT 48 U/l (v.n. up to 40); FAL 174 U/l (v.n. up to 306); total bilirubin 1.20
3.5-5); HBsAg(-); anti-HBc (-); anti-HCV(-); ANA(-); AMA(-); ASMA(-); ceruloplasmin, % alpha1-antitrips
Ultrasound: liver with multiple linear echogenic images (compatible with fibrosis) delimiting pseudo-non-endocardial fibrosis areas.
Recanalised umbilical vein (15 mm) with hepatofugal flow.
Small, low flow intrahepatic portal system veins.
Normal bile ducts and bladders.
Homogeneous margins (19 cm).
Kidneys with normal characteristics
Do not ascites.
Endoscopy: grade I esophageal varices. Laparoscopy: nodular liver with fibrotic bands.
Hepatic biopsy: areas of periportal fibrosis, with ductal epithelium-type structures cubic, delimiting nodular areas without lobular architecture alteration.
No necrosis, metastasis, no significant inflammation.
Histopathological diagnosis: congenital liver fibrosis.
von Recken's disease (hamartoma pigmentosa)
The patient evolved favorably with periodic medical controls.
