Congenital hepatic fibrosis is one of the chronic liver diseases in children that can cause portal and periportal fibrosis and, consequently, portal hypertension [7]. Intrahepatic diseases are the leading cause of portal hypertension in children, and CHF accounts for about 6.6% of them [8].

Recent studies have demonstrated that ciliopathies underlie several recessive and dominant malformation syndromes, including CHF [1,3]. Ciliopathies encompass a group of diseases that have similar but largely variable clinical phenotypes. They are caused by mutations that affect genes encoding structural or functional components of the primary cilia or basal bodies, such as PKHD1, which encodes fibrocystin, and TMEM67 [1,3].

Four types of CHF have been identified: portal hypertensive, cholangitic, mixed, and latent types [5]. In different studies, the portal hypertensive type with consequent bleeding varices is the most common. In our case, the little patient suffered from the complications of portal hypertension. Generally, the function of the liver parenchyma is not affected, therefore liver function tests remain intact, as in our case [4].

In most cases, CHF is associated with renal involvement, and this association makes the diagnosis easier, as the renal lesions can be easily detected through ultrasound [5]. In our case, though, neither ultrasound nor CT scan revealed any signs of renal abnormalities; furthermore, renal function tests were normal. Due to the lack of renal involvement, CHF eluded us, and our first differential diagnosis was hepatoblastoma, based on the presence of focal hepatic enlargement in the left lobe with an intact liver function. However, the results of the pathological examination of the biopsy, along with the clinical, radiological, and serological findings, excluded the neoplastic disease.

US and CT scans play a crucial role in diagnosing CHF and differentiating it from liver cirrhosis, but the golden test for confirming the diagnosis is the histological examination of the liver biopsy [1,2].

Ductal plate malformations can also lead to many other intrahepatic diseases such as Caroli’s disease, which affects large intrahepatic bile ducts [4]. The association between CHF and Caroli’s disease was reported in approximately 26% of the cases, while the isolated form accounted for 10% [9] In our patient, only the ductules were affected, so the association with Caroli’s disease was ruled out [5].

There is no specific drug that can cure CHF, and the treatment is directed toward treating complications and clinical symptoms. A liver transplant is recommended in the final stages of the disease [2].

Unfortunately, our little patient left the hospital, and the connection to her family was lost.

Our report aims to give more attention to the isolated form of congenital hepatic fibrosis and to include it in the differential diagnosis of chronic liver diseases in children, even in the absence of renal injury. The precise genetic basis of this rare entity is still unknown. Further studies are needed to elucidate its relation to polycystic kidney diseases and to determine if they are genetically separate.