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

doi:10.37015/AUDT.2021.200066

Advanced Ultrasound in Diagnosis and Therapy ›› 2022, Vol. 6 ›› Issue (1): 29-32.doi: 10.37015/AUDT.2021.200066

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

Danqing Huang, MS^a, Min Tang, MS^b, Aimei Li, MD^c, Decai Yu, MD^d, Jun Chen, MD^e, Min Wu, MS^a, Wenping Wang, MD^f, Wentao Kong, MD^a^,^*()

^aDepartment of Ultrasound, Zhongshan Hospital, Fudan University, Shanghai, China
^bDepartment of Radiology, Zhongshan Hospital, Fudan University, Shanghai, China
^cDepartment of Nuclear Medicine, Zhongshan Hospital, Fudan University, Shanghai, China
^dDepartment of Hepatobiliary Surgery, Zhongshan Hospital, Fudan University, Shanghai, China
^eDepartment of Pathology, Zhongshan Hospital, Fudan University, Shanghai, China
^fDepartment of Ultrasound, Zhongshan Hospital, Fudan University, Shanghai, China

Received:2020-11-22 Revised:2020-12-21 Online:2022-03-30 Published:2022-03-01
Contact: Wentao Kong, MD, E-mail:breezewen@163.com

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Abstract

Abstract:

Neurofibromatosis type 1 (NF1) is a benign peripheral nerve sheath tumor, which can primarily cause neurocutaneous manifestations. We herein present a rare case of periportal neurofibromatosis with intrahepatic, retroperitoneal and pelvic involvement. The patient underwent abdominal ultrasound (US), magnetic resonance imaging, and a positron emission tomography-computed tomography. Despite these various imaging features, a diagnosis of lymphomas could not be entirely excluded. The patient therefore underwent US-guided biopsy, and a diagnosis of intrahepatic neurofibromatosis was made. Through retrospective analysis of this case along with literature review, we concluded that distributing along the Glisson’s sheath may be a characteristic in the diagnosis of NF that involves liver.

Key words: Case report; Ultrasonography; Radiology; Neurofibromatosis; Glisson’s sheath

Danqing Huang, MS, Min Tang, MS, Aimei Li, MD, Decai Yu, MD, Jun Chen, MD, Min Wu, MS, Wenping Wang, MD, Wentao Kong, MD. Neurofibromatosis with Intrahepatic, Retroperitoneal and Pelvic Involvement: A Case Report and Literature Review. Advanced Ultrasound in Diagnosis and Therapy, 2022, 6(1): 29-32.

References

[1]	Boyd KP, Korf BR, Theos A. Neurofibromatosis type 1. J Am Acad Dermatol 2009; 61:1-14.
[2]	Huson SM, Compston DA, Clark P, Harper PS. A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I.Prevalence, fitness, mutation rate, and effect of parental transmission on severity. J Med Genet 1989; 26:704-711.
[3]	Korf BR. Plexiform neurofibromas. Am J Med Genet 1999; 89:31-73.
[4]	Farid M, Demicco EG, Garcia R, Ahn L, Merola PR, Cioffi A, et al. Malignant peripheral nerve sheath tumors. Oncologist 2014; 19:193-201.
[5]	Fujisawa T, Takata M, Ouchi S, Ueyama S, Nakajima T, Mitsutsuji M, et al. Intra-abdominal plexiform neurofibromatosis including periportal, mesentery, and gastrointestinal tract involvement in neurofibromatosis type 1: case report and review of the literature. Clin J Gastroenterol 2011; 4:292-297.
[6]	Rodríguez E, Pombo F, Rodríguez I, Vázquez Iglesias JL, Galed I. Diffuse intrahepatic periportal plexiform neurofibroma. Eur J Radiol 1993; 16:151-153.
[7]	Khandwala K, Sajjad Z, Abbasi SU, Tariq MU. Hepatic, Periportal, Retroperitoneal, and Mesenteric Neurofibromatosis in von Recklinghausen's Disease. Cureus 2018; 10:e2248.
[8]	Delgado J, Jaramillo D, Ho-Fung V, Fisher MJ, Anupindi SA. MRI features of plexiform neurofibromas involving the liver and pancreas in children with neurofibromatosis type 1. Clin Radiol 2014; 69:e280-4.
[9]	Matsuki K, Kakitsubata Y, Watanabe K, Tsukino H, Nakajima K. Mesenteric plexiform neurofibroma associated with Recklinghausen's disease. Pediatr Radiol 1997; 27:255-256.
[10]	Azizi AA, Slavc I, Theisen BE, Rausch I, Weber M, Happak W, et al. Monitoring of plexiform neurofibroma in children and adolescents with neurofibromatosis type 1 by [18 F]FDG-PET imaging. Is it of value in asymptomatic patients? Pediatr Blood Cancer 2018; 65.
[11]	Malagari K, Drakopoulos S, Brountzos E, Sissopulos A, Efthimidadou A, Hadjiyiannakis E, et al. Plexiform neurofibroma of the liver: findings on mr imaging, angiography, and CT portography. AJR Am J Roentgenol 2001; 176:493-5.
[12]	Hoshimoto S, Morise Z, Takeura C, Ikeda M, Kagawa T, Tanahashi Y, et al. Plexiform neurofibroma in the hepatic hilum associated with neurofibromatosis type 1: a case report. Rare Tumors 2009; 1:e23.
[13]	Lee KH, Yoo SH, Noh GT, Heo WS, Ko BS, Chio JA, et al. A case of portal hypertension by presumed as plexiform neurofibroma at the hepatic hilum. Clin Mol Hepatol 2016; 22:276-80.
[14]	Singh A, Chandrashekhara SH, Handa N, Baliyan V, Kumar P. "Periportal neoplasms"--a CT perspective: review article. Br J Radiol 2016; 89:20150756.
[15]	Lin J, Martel W. Cross-sectional imaging of peripheral nerve sheath tumors: characteristic signs on CT, MR imaging, and sonography. AJR Am J Roentgenol 2001; 176:75-82.
[16]	Barrington SF, Mikhaeel NG, Kostakoglu L, Meignan M, Hutchings M, Müeller SP, et al. Role of imaging in the staging and response assessment of lymphoma: consensus of the International Conference on Malignant Lymphomas Imaging Working Group. J Clin Oncol 2014; 32:3048-58.

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

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