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Goubaa Mohamed MD Djerba Tunisia

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--- Arabic
A 32-year-old men, with a history of chronic duodenal ulcer since age 18, has had diffuse abdominal symptoms for approximately 4weeks ( nausea, vomiting, persistent mid-epigastric pain, and weight loss). For 20 years a von Recklinghausen's neurofibromatosis has been known. Laboratory data revealed a hemoglobin of 7,6. a hematocrit of 21%, and a white blood cell count of 4,700 with a normal differential. and elevated sedimentation rate(52/105). Liver function tests are normal Bilribin of 9, anSGOT of 16, an SGPT of 11, an alkaline phosphatase of 163. (Patient with a family history of neurofibromatosis image6 ). Patient âgé de 32ans , avec antécédent d'ulcère duodénal depuis l' age de 18 ans, présente depuis 4 semaines des douleurs épigastriques, nausées et vomissements avec perte de poids. Il est connue porteur d'une neurofibramatose. Les analyses biologiques montrent une hémoglobine à 7,6 g, une hématocrite à 21 et des globules blancs à 4700. La vitesse de sédimentation est élevé (52/105). Les teste hépatiques sont normaux avec biluribine totale à 9, SGOT à 16, SGPT à 11 et des phosphatase alcalines à 163.(le père comme sur le 6 ème image et porteur lui aussi de neurofibromatose).

 

 

 

 

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We present a rare case of neurofibromatosis (von Recklinghausen's disease) involving the liver in a 32-year-old men. Characteristic lesions (image7) include cafe-au-lait spots and neurofibromas (image6) following the path of peripheral nerves. Abdominal ultrasonography revealed infiltrative hypoechoic masses around the porta hepatitis and intrahepatic portal branches. CT also revealed extensive low-attenuation masses in the hepatic hilum and retroperitoneum. The tumor spread into the liver along the portal vein. It should be borne in mind that the liver may be involved by neurofibromas in patients with neurofibromatosis.Radiology image of the stomach show evidence of duodenum obstruction (ulcer).
a laparotomy was performed (vagotomy and GEA). At surgery, the mesentery was greatly thickened by neurofibromas, and plexiform neurofibroma extended through the hilum of the liver. Biopsy lymph nodes (image2), retroperitoneal mass revealed neurofibromatosis and demonstrated that the most distal ramifications of the biliary duct spaces were filled with Schwann cells, bundles of unmyelinated nerves and perineurium-surrounded nerves containing myelinated and unmyelinated fibers.
Diagnosis : neurofibromatosis involving the liver + duodenal ulcer with obstruction.
Nous présentons un cas très rare de neurofibromatose ( de Von Ricklinghausen)avec atteinte hépatique chez un patient de 32 ans Les lésions caractéristiques (images7) comportent du taches café au lait et des neurofibormes des nerfs périphériques. L'échographie révèle une masse infitrante hypoéchogène autour du tronc porte et autour des branches inta-hépatiques. Le scanner révèle une infiltration du hile hépatique et de le région retro péritonéale. La tumeur se répand dans le foie le long des branches porte. Il fort s'attendre à l'étouffement du foie par le neurofibromatose. Les clichés radiologiques montrent un estomac dilaté et une obstruction du duodénum par l'ulcère. Une laparotomie à été décidée (vagotomie et GEA pour son ulcère) . A l'ouverture le mésentère est très épais et le neurofibromatose s'étend par l'intermédiaire du hile à l'intérieur du foie la biopsie de l'adénopathie (image2) et de la masse retro-péritonéale confirme la neurofibromatose et montre que les ramification du canaux biliaux sont entourées par des cellules de Schwann et des paquets de tissu nerveux contenant de fibres nerveuses. Diagnostic : neurofibromatose envahissant le foie et ulcère duodénal obstructif.

 

 

 

 

 

 

 

 

 

Neurofibromatosis (von Recklinghausen's disease) involving the liver Neurofibromatose de von Recklinghausen avec atteinte hépatique

 

Abdominal involvement in neurofibromatosis Type 1

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Arabic

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 Details:
Clinical presentation depends on the body system involved :
*
cutaneous and subcutaneous neurofibromas
* café au lait macules and Multiple freckles in the axillary or inguinal region.
* osseous lesion
* Optic glioma
* hamartomas
* 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 (1).
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 :
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.

Differential diagnosis
:
Common tumours :
* Liposarcoma

* Leiomyosarcoma
* Malignant fibrous histiocytoma
* Teratoma
Rare tumours :
haemangiopericytoma, spindle cell sarcoma, neurofibrosarcoma, teratocarcinoma, fibrocytoma, malignant paraganglioma, extra-adrenal neuroblastoma, mesenchymomas.


Prognosis and Management :

Prognosis varies depending on the types of tumors which an individual develops.
Malignancies associated 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 for treatment.
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.

References
* 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, Seoul, Korea.
* 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. fenton.laura@tchden.org
* 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.

 

 


 
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