Hepatic, Periportal, Retroperitoneal, and Mesenteric Neurofibromatosis in von Recklinghausen's Disease

Abstract

We present a rare case of histologically proven neurofibromatosis of the liver, hepatic hilum, retroperitoneum, and mesentery. An adult male who had been diagnosed with neurofibromatosis (NF) type 1 underwent a computed tomography (CT) scan for abdominal pain and vomiting. The CT scan showed a large low-attenuating lesion in the region of porta hepatis which was infiltrating along portal tracts into the liver, encasing the major vessels, and extending into the retroperitoneum and mesentery. Based on the radiological findings, a differential diagnosis of plexiform neurofibroma was given, although sarcomatous transformation could not have been entirely excluded from imaging alone. The tumor was subsequently biopsied, and the histopathological analysis confirmed the diagnosis of neurofibroma. This case highlights the importance and diagnostic dilemmas in the presence of this tumor at atypical locations in this disease spectrum.

Neurofibromatosis with Intrahepatic, Retroperitoneal and Pelvic Involvement: A Case Report and Literature Review

“…In this case, abdominal US, MRI and PET-CT presented conglomerated nodules encasing the intrahepatic tracts, and intrahepatic vessels were found to pass through the lesion integrally. The Glisson's sheath-companying proliferation of the lesion was consistent with the NF's proliferative characteristics, one of which is tending to grow along the length of nerve fibers accompanying vessels and ducts [5][6][7]. Compared with several previous reports of the hepatic neurogenic tumours, which were biopsy-proven as plexiform neurofibromatosis (PNF) by surgery, those cases shared many common characteristics with our case [5,6,[8][9][10][11][12][13].…”

“…Then further research elucidated the dominant inheritance of NF1 [3,4]. It is a proliferation of all parts of peripheral nervous system and as a result, it can cause pain, functional damage, and considerable mortality [5][6][7][8][9][10][11][12][13]. NFs rarely located in abdomen and the involvement of liver is extremely unusual.…”

Neurofibromatosis Type 1 with a Giant Diffuse Plexiform Neurofibroma Invading the Liver

“…We searched the PubMed Medline database using a combination of the terms "plexiform neurofibroma," and "hepatic," "intrahepatic," "periportal," "portal," or "porta hepatis." We found 11 articles describing 15 cases of PN with intrahepatic infiltration (1,2,4,(6)(7)(8)(9)(10)(11)(12)(13). Cases of PNs that invade the liver along the portal vein are rare.…”

Radiological Approach to Diagnosis of Peribiliary Lesions

“…On MRI, these appear as "target-like" lesions which show central hypointensity of collagenous or fibrotic component and peripheral hyperintensity of myxoid or cystic degeneration component on T2WI with central post gadolinium enhancement. 30 NF characteristically encases the portal vessels and biliary radicles without exerting any mass effect on these structures. This periportal infiltration with normal vessel distribution is a helpful feature in distinguishing from other perihilar infiltrating lesions such as lymphomas, mesenchymal tumors, atypical cystadenocarcinomas, and mixed epithelial and mesenchymal tumors.…”

“…29 These seen as sheath-like, multilobulated, fusiform, homogenously hypodense lesions,with none to mild enhancement, and have diffuse or segmental distribution in periportal location. 30 The hypoattenuating nature can be explained by the myxoid matrix, entrapped adipose tissue and cystic degeneration. On MRI, these appear as "target-like" lesions which show central hypointensity of collagenous or fibrotic component and peripheral hyperintensity of myxoid or cystic degeneration component on T2WI with central post gadolinium enhancement.…”