NF is considered in two forms: NF I - peripheral predominance
(cutaneous, visceral and skeletal, lesions can be lytic to bone,
space occupying and or disfiguring), or NF II - central with CNS
orbito-fascial involvement (high mortality).
Neurofibromatosis NF-1 is one of the most common autosomal dominant
disease with an estimated frecuency of 1:3000 live births.
NF-1 or classic neurofibromatosis, is characterised by the familiar
cafe- au-lait spots, axillary freckling, cutaneous and visceral
neurofibromas (which sometimes undergo malignant transformation),
gliomas, scoliosis, and Lisch nodules of the iris. NF-1 is associated
with the the von Recklinghausen Neurofibromatosis. The gene is
located on chromosome 17.
Abdominal involvement in patients with neurofibromatosis has been
described, including neurofibromas within the liver, mesentery,
the retroperitoneum, and the GI tract. Large-bowel intussusception
has been reported. Small-bowel leiomyomas, adenocarcinomas with
neuroendocrine function, GI tract vasculopathy, GI tract bleeding,
pseudoobstruction, and protein-losing enteropathy also may occur.
Clinical presentation depends on the
body system involved :
* cutaneous and subcutaneous neurofibromas
* café au lait macules and Multiple freckles in the axillary or
* osseous lesion
* Optic glioma
* GI tract or Cardiovascular or urinary system involvement...
* A first-degree relative (parent, sibling, offspring) with NF1.
Gastrointestinal involvement occurs in 25 percent of all cases
Abdominal involvement includes neurofibromas within the liver,
mesentery, retroperitoneum, and large and small-bowel. Patients
may present with abdominal pain, nausea, abdominal distension,
diarrhea, constipation, bowel perforation, or bleeding (2 , 3
, 5, 7).
Sonography (US) is now
the initial diagnostic tool for abdominal exploration, which prompted
us to determine the clinical manifestations and US findings of
abdominal involvement in NF1 (6). Abdominal
involvement includes NF and tumor growth in the liver, mesentery,
and the retroperitoneum in addition to mesenteric leiomyomatosis
and gastric and bowel tumors.
Biliary obstruction may be demonstrated on ultrasound images,
and tumor spread into the liver along the portal vein has been
shown as infiltrative hypoechoic masses around the porta hepatis
and intrahepatic portal branches (6).
Similarly, obstructive uropathy caused by neurofibroma may be
depicted on ultrasound images.
Common tumours :
* Malignant fibrous histiocytoma
Rare tumours :
haemangiopericytoma, spindle cell sarcoma, neurofibrosarcoma,
teratocarcinoma, fibrocytoma, malignant paraganglioma, extra-adrenal
Prognosis and Management :
Prognosis varies depending on the types of tumors which an individual
with NF1 include neurofibrosarcomas, astrocytomas, meningiomas,
medulloblastomas, Wilms’ tumors, rhabdomyosarcoma, and pheochromocytomas.
Of these, neurofibrosarcomas are the most common.
Neurofibrosarcomas are aggressive and invasive tumors that occur
in persons with NF1.Complete surgical removal is the current recommendation
Management of plexiform neurofibromas is not well defined. The
size of the tumor, the location, and the affected persons level
of tolerance will determine treatment. Surgery is the only treatment
for plexiform neurofibromas. However the tumors reoccur if they
are not completely resected. persons that have had partial resections
of the tumor will have a higher recurrence rate.
* 1: Orv Hetil. 2002 Aug 18;143(33):1947-50. [Bile
duct obstruction caused by neurofibroma in a patient with Recklinghausen's
disease] [Article in Hungarian] Bajor J, Garamszegi M, Grexa E,
Anga B, Papp G, Bero T. Baranya Megyei Korhaz, I.sz.Belgyogyaszati
es Gasztroenterologiai Osztaly, Pecs.
* 2: J Comput Assist Tomogr. 2002 Jan-Feb;26(1):129-31. Segmental
colonic involvement of plexiform neurofibroma in neurofibromatosis
type 1. Yang KH, Rhim H, Cho OK, Ko BH, Kim Y, Lee HW, Hong EK.
Department of Diagnostic Radiology, Hanyang University Hospital,
* 3: Zentralbl Chir. 2001 May;126(5):399-401. [Early abdominal
manifestation of neurofibromatosis type ! in a 12-year-old boy]]
[Article in German] Gomez Dammeier BG, Wehinger H, Fuchs J. Abteilung
fur Kinderchirurgie, Medizinische Hochschule Hannover.
* 4: Gastroenterol Clin Biol. 2002 Aug-Sep;26(8-9):791-3. [Value
of MRI in hepatic plexiform neurofibromatosis. Case report] [Article
in French] Imbert JP, Pilleul F, Valette PJ.
* 5: Pediatr Radiol. 2001 Sep;31(9):637-9. Diffuse, retroperitoneal
mesenteric and intrahepatic periportal plexiform neurofibroma
in a 5-year-old boy. Fenton LZ, Foreman N, Wyatt-Ashmead J. Department
of Radiology, The Children's Hospital, 1056 East 19th Avenue,
B125, Denver, CO 80128, USA. email@example.com
* 6: Abdom Imaging. 2000 Sep-Oct;25(5):517-22. Abdominal involvement
in neurofibromatosis 1: sonographic findings. Sato M, Ishida H,
Konno K, Komatsuda T, Hamashima Y, Naganuma H, Kon H, Watanabe
S, Ishida J. First Department of Internal Medicine, Akita University
School of Medicine, 1-1-1 Hondo, Akita City, Japan.
* 7: Br J Radiol. 1999 Jun;72(858):604-6. Plexiform neurofibroma
of the small bowel infiltrated with metastatic adenocarcinoma.
Leslie A, Virjee JP, Moorghen M. Department of Clinical Radiology,
Bristol Royal Infirmary, UK.
* 8: Med Klin (Munich). 1998 Sep 15;93(9):550-3. [Von Recklinghausen
type I neurofibromatosis and neuroendocrine tumor (somatostatinoma)
in a 50-year-old woman] [Article in German] Reichardt M, Rexroth
W, Hasslacher C. Klinik fur Innere Medizin, St.-Vincentius-Krankenhaus
Heidelberg. * 9: Chir Ital. 1998;50(5-6):83-6. [Duodenal gangliocytic
paraganglioma: intraoperative ultrasound evaluation] [Article
in Italian] Gavinelli M, Montagnolo G, Tiberio GA, Massari M,
Bensi E, Tiberio G.
* 10: Minerva Med. 1996 Jul-Aug;87(7-8):363-8. [Duodenal somatostatinoma
associated with von Recklinghausen's neurofibromatosis] [Article
in Italian] Vezzadini P, Poggioli R, Vezzadini C, Alberani A,
Dal Monte PR. Dipartimento di Medicina Interna e Gastroenterologia,
Ospedale Bellaria, Universita degli Studi, Bologna.
* 11: Orv Hetil. 1995 Oct 15;136(42):2287-92. Comment in: Orv
Hetil. 1996 Jan 21;137(3):158. [Neurofibromatosis (von Recklinghausen
disease) and carcinoid tumor in Vater's ampulla] [Article in Hungarian]
Simon L, Kiss J, Kovacs H, Lukacs M, Nagy P. Gastroenterologiai
Osztaly, Tolna Megyei Onkormanyzat Korhaza.
* 12: G E N. 1995 Oct-Dec;49(4):303-6. [Von Recklinghausen disease
and hepatic neurofibromatosis] [Article in Spanish] Guzman Toro
F, Hinestroza D, Colmenares D. Cirugia de Postgrado, Hospital
Universitario de Maracaibo.
* 13: Pediatr Radiol. 1994;24(1):66-7. Neurofibromatosis type
1 involving the liver: ultrasound and CT manifestations. Kakitsubata
Y, Kakitsubata S, Sonoda T, Watanabe K. Department of Radiology,
Miyazaki Medical College, Japan.
* 14: Gaoxiong Yi Xue Ke Xue Za Zhi. 1991 Dec;7(12):650-6. Huge
plexiform neurofibroma of the head and liver--case report. Chen
TC, Kuo WR, Chai CY, Juan KH. Department of Otolaryngology Head
and Neck Surgery, Kaohsiung Medical College Hospital, Taiwan,
Republic of China.
* 15: Hepatology. 1990 Sep;12(3 Pt 1):559-64. Plexiform neurofibromatosis
of the liver and mesentery in a child. Partin JS, Lane BP, Partin
JC, Edelstein LR, Priebe CJ Jr. Department of Pediatrics, School
of Medicine, State University of New York, Stony Brook 11794-8111.