Clinical case T. Guarneri Cattedra di radiologia – Universit  di Brescia

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Transcript of Clinical case T. Guarneri Cattedra di radiologia – Universit  di Brescia

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Clinical case T. Guarneri Cattedra di radiologia Universit di Brescia Slide 2 D.F. 20 ys, F Physiological anamnesis: Good general health conditions Close pathologic anamnesis: On May 2011 she has a car accident Slide 3 Chest XR (03-05-2011) NEGATIVE? Slide 4 27.05.2011: abdominal pain, no fever or other symptoms Ultrasound Slide 5 Heterogeneously hypoechoic mass (52 x 25 mm) in the paraspinal and presacral regions ADENOPATHY? Slide 6 CT (30-05-2011) Slide 7 Chest Slide 8 . Abdomen Slide 9 Neurofibromatosis Type 1 (von Recklinghausen disease) - one of the most common genetic disorders (prevalence: 1:3000) - mutation of the NF1 gene (chromosome 17): no control of cellular proliferation 50% positive family history 50% sporadic new mutations Slide 10 Diagnostic Criteria for NF1 The patient should have two or more of the following: 1. Six or more cafe au lait spots 1.5 cm or larger in postpubertal individuals 0.5 cm or larger in prepubertal individuals 2. Two or more neurofibromas of any type or one or more plexiform neurofibromas 3. Freckling in the axilla or groin 4. Optic gliomas (tumor of the optic pathway) 5. Two or more Lisch nodules (benign hamartomas) 6. A distinctive bony lesion Dysplasia of the sphenoid bone Dysplasia or thinning of long bone cortex 7. First degree relative with NF1 Slide 11 Classification of Abdominal Neoplasms in NF1 Neurogenic neoplasms Neurofibroma Plexiform neurofibroma Malignant peripheral nerve sheath tumor Ganglioneuroma Neuroendocrine neoplasms Carcinoid Pheochromocytoma Paraganglioma / Gangliocytic paraganglioma Non neurogenic gastrointestinal mesenchymal neoplasms Gastrointestinal stromal tumor Leiomyoma / Leiomyosarcoma Embryonal tumors Rhabdomyosarcoma Neuroblastoma Wilms tumor Miscellaneous tumors Gastrointestinal adenocarcinoma Pancreatic adenocarcinoma Biliary adenocarcinoma The lifetime risk of developing an MPNST (malignant peripheral nerve sheath tumor) for a person with NF1 is 4-5%. Slide 12 Neurofibromas are the hallmark lesion of NF1 65% asymptomatic 35% symptomatic: - palpable abdominal mass - pain along the distribuition of the nerve - GI mucosal involvement (hematemesis, melena, hematochezia) - intestinal obstruction (nausea, vomiting,abdominal distension) -bladder involvement (urinary frequency, incontinence, urgency, abdominal pain) Slide 13 Radiologic features In the thorax, neurofibromas tipically appear as well- marginated, smooth, round or elliptic masses in the paravertebral regions or along the course of the vagus, phrenic, recurrent laryngeal or intercostal nerves. Plexiform neurofibromas are extensive fusiform or infiltrating masses that tend to surround mediastinal vessels with loss of normally visible fat planes. In the abdomen, neurofibromas are located in the paraspinal (symmetric or asymmetric masses within or adjacent to the psoas muscle) and presacral regions, along the course of the lumbosacral plexus. Mesenteric plexiform neurofibromas manifest as multiple nodules or infiltrating lesions of the wall of the intestine. The lesions in the perirectal region can infiltrate the perirectal fat and the pelvic structures. Slide 14 US: heterogeneous in echotexture with variable through transmission (e.g. retroperitoneal and paraspinal neurofibromas), homogeneously or heterogeneously hypoechoic in echotexture (e.g. mesenteric neurofibromas) CT: neurofibromas are iso- or hypoattenuating masses, compared with adjacent soft tissue (20-25 HU on nonhenanced scans, 30-35 HU on intravenous contrast enhanced scans). They have variable contrast enhancement and may calcify. MR: low signal intensity on T1-weighted images heterogeneous high signal intensity on T2-weighted images corresponds to areas of cystic degeneration or myxoid matrix Slide 15 MR T1 T2 Slide 16 NF1: a diagnostic mimicker at CT Lymphoma Tuberculosis Infection (Mycobacterium avium- intracellulare complex) Sarcoidosis Slide 17 Esophageal cancer Invasive thymoma Fibrous pleural tumors Metastatic pleural implants Extramedullary hematopoiesis Slide 18 Pancoast tumor Solitary pulmonary nodule Slide 19 Pulmonary adenocarcinoma Metastatic adenocarcinoma Plasmacytoma Pulmonary infection (nocardiosis, actinomycosis) Metastatic disease Soft-tissue sarcoma Chondrosarcoma Slide 20 Vertebral metastatic disease Myeloma Tuberculous spondylitis Bilateral adrenal masses Slide 21 Celiac adenopathy Retrocrural adenopathy Slide 22 Psoas abscess Rectal inflammatory or malignancy Slide 23 Iliac and obturator adenopathy Slide 24 Primary bone malignancies (giant cell tumor, chordoma, lymphoma) or metastasis Primary or metastatic soft- tissue sarcoma Slide 25 Imaging studies are indicated only when patients are symptomatic. Surgery is currently the only treatment option for most of the lesions in NF1. Chemotherapy and radiation therapy are recommended only for the treatment of the malignant tumors. Treatment Slide 26 Bibliography Fortman BJ, Kuszyk BS, Urban BA, Fishman EK, Neurofibromatosis Type 1: A Diagnostic Mimicker at CT. RadioGraphics 2001; 21:601- 612. Biondetti PR, Vigo M, Flore D, et al. CT appearance of generalized von Recklinghausen neurofibromatosis. J Comput Assist Tomogr 1983; 7:866869. Levy AD, Patel N, Dow N, Abbott RM, Miettinen M, Sobin LH, From the Archives of the AFIP:Abdominal Neoplasms in Patients with Neurofibromatosis Type 1: Radiologic-Pathologic Correlation. RadioGraphics 2005; 25:455480. Braunwald e, Fauci AS, Kasper DL,Hauser SL, Longo DL, Jameson JL, Harrison: Principi di Medicina Interna. Ed. McGraw-Hill 2002. Tonsgard JH, Clinical Manifestations and Management of Neurofibromatosis Type 1 Semin Pediatr Neurol 2006; 13:2-7