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Category: Volume 09 Issue 08 August 2021
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Title: Multifocal gastrointestinal stromal tumour and presacral ganglioneuroma in a patient with Von Recklinghausen disease

Authors: Jaseela TK, Deepa S, Sankar S

 DOI: https://dx.doi.org/10.18535/jmscr/v9i8.01

Abstract

Neurofibromatosis 1 is an autosomal dominant genetic disorder and is associated with neuroectodermal tumours arising within multiple organs. Gastrointestinal stromal tumours are seen as a common manifestation of NF 1, but association of ganglioneuromas with neurofibromatosis type 1 is uncommon. Gastrointestinal stromal tumours in NF 1 is commonly located in the small intestine and they can present with gastrointestinal haemorrhage and diagnostic suspicion is essential in these patients to ensure appropriate management. Among the neurofibromatosis type 1 patients only 10-25% may present with intra-abdominal manifestations, and only 5% of them are symptomatic and surgery is required only for 2.5%. We present a case of 39 year old female with NF1 who presented with complaints of recurrent melena and anaemia. At laparotomy multiple GISTs were seen arising from small intestine and a ganglioneuroma arising in the presacral was noted. All these masses were resected along with the neurofibromas present in the midline of anterior abdominal wall. Final diagnosis based on the histopathology was neurofibroma, ganglioneuroma and gastrointestinal stromal tumour. Presacral ganglioneuromas are very rare and only less than 20 cases have been reported so far in literature.

Keywords: Neurofibromatosis 1, Jejunum, Melena, Gastrointestinal Hemorrhage.

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Corresponding Author

Jaseela TK

Department of Pathology, Government medical college Kottayam, Kerala