CASE 4369 Published on 09.04.2006

A patient with a thoracic and an abdominal tumour in neurofibromatosis type 1 (NF-1)

Section

Abdominal imaging

Case Type

Clinical Cases

Authors

Lothar Albrecht, Lars Ivo Partecke, Christoph Luehken, Brigitte Birk, Soenke Langner, Peter Siemer, Norbert Hosten

Patient

52 years, male

Clinical History
Two tumours in a 52 years old patient were detected with multislice CT. Differential diagnoses of both lesions (abdominal and thoracic) are discussed.
Imaging Findings
A male patient 52 years old with a hereditary neurofibromatosis type 1 presented with swallowing disorders. Clinically cutaneous fibromas and Café au lait lesions were visible. A polyp of the esophagus was diagnosed. Laboratory findings were negative except from a slightly elevated gamma-GT 1,6 µkatal/l (Ref.: <0.96 µkatal/l). To exclude further tumours a multislice- CT of the lung and abdomen (Siemens Sensation 16, 1,5 mm collimation, 6 mm reconstruction, table feed 30 mm/s; 100 ml Accupaque 350 iv, Flow 3.0 ml/s) was performed. A paravertebral lesion in the right thoracic apex and a tumour in the aborally located jejunum were detected (Fig 1a,b, 2, 3). Fluoroscopic monocontrast enteroclysis with a water soluble contrast agent (Peritrast RE 36%, Franz Koehler Chemie, Alsbach-Haehnlein, Germany) confirmed the jejunal finding (Fig 4). While CT guided punch biopsy with an 18 G Single Action Biopsy Device (Promex Technologies, Franklin, IN, USA) of the thoracic lesion lead to histological diagnosis of a fibromatous lesion surgical resection of the jejunum became necessary and proved a gastrointestinal stromal tumour (GIST) with a low risk of malignancy. Mesenteric lymph nodes were negative for metastasis. A week after successful surgery the patient was dismissed.
Discussion
Neurofibromatosis Type 1 (NF-1, Recklinghausen’s disease) is an inherited autosomal disorder and the most common of the phakomatoses (one of every 2,000 live births) (1,2). Approximately 10% of patients present later in life with atypical manifestations. Cutaneous neurofibromas and café-au-lait spots are common. Gastrointestinal involvement occurs in up to 25% of patients abd is symptomatic in less than 5%(1,2). Gastrointestinal manifestations can be (1): 1. Mucosal neurofibromas that may be distributed in a more patchy or plexiform manner. 2. Gastrointestinal stromal tumours (GIST) are localized in the stomach or jejunum. These lesions can be responsible for obstruction, bleeding, intussusception, volvulus and perforation. usually of benign dignity The risk of sarcomatous degeneration of NF-1 lesions is lower than 5% (3). 3.Carcinoid tumours are usually localized in the duodenum. Pulmonary persentation of NF-1 cosists of fibrosis and thin-walled bullae (approximately 20% of adult patients) pulmonary tumours have not been described yet (4). Intrathoracic manifestations of NF-1 tumours are very rare (5). Plexiform and other neufofibromas have been reported with highest incidence. Neurofibrosarcomas can be found in children also but are much more unfrequent (6). There has only one case of a mediastinal carcinoid tumor reported in association with a NF-1 (7). Due to the histological diagnosis a thoracic surgery should considered when the patient becomes symptomatic bacause rate of malignant changes is low but can be increased due to operative trauma (8).
Differential Diagnosis List
Thoracic neurofiboma and jejunal GIST.
Final Diagnosis
Thoracic neurofiboma and jejunal GIST.
Case information
URL: https://www.eurorad.org/case/4369
DOI: 10.1594/EURORAD/CASE.4369
ISSN: 1563-4086