scholarly journals Anesthetic Considerations in a Patient With Plexiform Neurofibromatosis: A Case Report

2018 ◽  
Vol 5 (4) ◽  
pp. 169-170
Author(s):  
Pardis Soltanpoor ◽  
Faranak Behnaz ◽  
Mehdi Farokhi ◽  
Reza Jalili Khoshnood ◽  
Hamid Reza Azizi Farsani
Keyword(s):  
Gastrointestinal Stromal Tumors ◽  
Plexiform Neurofibroma ◽  
Neurofibromatosis Type ◽  
Stromal Tumors ◽  
Anesthetic Considerations ◽  
Plexiform Neurofibromatosis ◽  
History Of ◽  
The Brain ◽  
Other Neoplasms

Plexiform neurofibromatosis is an uncommon variant of neurofibromatosis type 1 (NF1) (Von Recklinghausen’s disease). There is a greater prevalence of neurofibromatosis 1 in patients with other neoplasms, such as rhabdomyosarcomas, gastrointestinal stromal tumors (GISTs), pheochromocytomas, carcinoid tumors and ganglioneuromas. We report the anesthetic implications of a case of a 33 year old patient with plexiform neurofibromatosis and a history of pheochromocytoma which was operated on previously. He presented with painless swelling on upper eye-lead since childhood and had multiple caféau-lait spots and neurofibromas on the trunk. The surgery was done in two sessions first on the plexiform neurofibroma of the eye followed by the operation on the brain mass.

scholarly journals Multiple Gastric Gastrointestinal Stromal Tumors in a Patient with Neurofibromatosis Type 1

2016 ◽  
Vol 2016 ◽  
pp. 1-5
Author(s):  
Makoto Tomatsu ◽  
Jun Isogaki ◽  
Takahiro Watanabe ◽  
Kiyoshige Yajima ◽  
Takuya Okumura ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Gastrointestinal Stromal Tumors ◽  
Kinase Inhibitor ◽  
Submucosal Tumor ◽  
Neurofibromatosis Type ◽  
Stromal Tumors ◽  
Serosal Surface ◽  
History Of ◽  
Small Intestinal

Gastrointestinal stromal tumors (GISTs) are relatively common in neurofibromatosis type 1 (NF 1) patients. Approximately 90% of GISTs associated with NF 1 are located in the small intestine, while sporadic GISTs are most commonly located in the stomach. Here we report an extremely rare case of an NF 1 patient with multiple gastric GITs (90 or more) but without multiple small intestinal tumors. A 63-year-old female patient who had a history of NF 1 underwent surgery for a gastric neuroendocrine tumor and gastric submucosal tumor (SMT). During the operation, multiple small nodules were identified on the serosal surface of the upper stomach. SMT and multiple nodules on the serosal surface were diagnosed as GISTs consisting of spindle cells positive for KIT, CD34, and DOG-1. Both GIST and the normal gastric mucosa showed no mutations not only in the c-kitgene (exons 8, 9, 11, 13, and 17) but also in thePDGFRAgene (exons 12, 14, and 18). This patient is being followed up without the administration of a tyrosine kinase inhibitor.

Gastrointestinal stromal tumors in neurofibromatosis type 1

2009 ◽  
Vol 150 (4) ◽  
pp. 149-153 ◽  
Author(s):  
Judit Bajor
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Gastrointestinal Stromal Tumors ◽  
Neurofibromatosis Type ◽  
Stromal Tumors

Az 1-es típusú neurofibromatosis, más néven Recklinghausen-kór a leggyakoribb autoszomális dominánsan öröklődő betegségek egyike. A neurofibromatosis génje a 17-es kromoszómán található NF1 tumorszuppresszor gén. A gén mutációja a tumorszuppresszor funkció kiesése következtében benignus és malignus tumorok kialakulásához vezet. Gastrointestinalis manifesztáció az esetek 25%-ában észlelhető, a leggyakrabban GIST. Az irodalomban jól ismert a két betegség szoros asszociációja, jelenleg már több mint 160 esetről van tudomásunk. Neurofibromatosisos betegek 7%-ában alakul ki GIST, és a GIST-betegek között az NF1 előfordulása 150-180-szoros az átlagpopulációhoz képest. A neurofibromatosishoz társuló GIST külön entitás, a sporadikus GIST-től eltérően általában multiplex, és szinte mindig a vékonybélben fordul elő. Enyhe női túlsúllyal, általában fiatalabb korban jelenik meg. Szövettani jellemzői közül az orsósejtes típus, a skeinoid testek jelenléte és a gyakori S100-pozitivitás emelhető ki. Mitotikus aktivitása alacsony, általában a prognózisa is kedvezőbb. A sporadikus GIST-re jellemző c-KIT- és PDGFRA-mutáció igen ritkán fordul elő, azzal a hipotézissel összhangban, hogy a neurofibromatosishoz társuló GIST patogenezise nem c-KIT-függő. Feltételezik, hogy neurofibromatosisban a GIST patomechanizmusa különbözik a sporadikustól, a GIST-tumor megjelenése a neurofibromatosis klinikai spektrumának része. C-KIT- és PDGFRA-mutáció az ismert néhány esetben feltehetőleg a tumorgenezis késői lépéseként alakul ki. A GIST terápiáját forradalmasító imatinib ebben a betegcsoportban nem hatékony, de kellő mennyiségű adat még nem áll rendelkezésre.

scholarly journals Plexiform Neurofibroma during Pregnancy, a Case Report from College Teaching Hospital, Kohalpur

2019 ◽  
Vol 17 (1) ◽  
pp. 58-59
Author(s):  
Nirmala Sharma ◽  
Durga B.C.
Keyword(s):  
Case Report ◽  
Neurofibromatosis Type 1 ◽  
Plexiform Neurofibroma ◽  
College Teaching ◽  
Neurofibromatosis Type ◽  
Connective Tissues ◽  
Previous Pregnancy ◽  
Plexiform Neurofibromatosis ◽  
Made In

Plexiform neurofibromas are rare variant (30%) of neurofibromatosis type 1 (NF-1) in which neurofibromas arise as large deforming masses from multiple nerve endings involving also connective tissues and skin folds. We report a case of 24 years old female, second gravida and one parity with diagnosis of plexiform neurofibromatosis made in previous pregnancy with remission of symptoms after pregnancy and accentuation during second pregnancy with positive pregnancy outcome.

Brain metastasis of Wilms tumor with diffuse anaplasia and complex cytogenetic phenotype in a child with neurofibromatosis Type 1

2011 ◽  
Vol 8 (4) ◽  
pp. 353-356
Author(s):  
Marianna Shvartsbeyn ◽  
Luigi Bassani ◽  
Irina Mikolaenko ◽  
Jeffrey H. Wisoff
Keyword(s):  
Brain Metastasis ◽  
Neurofibromatosis Type 1 ◽  
Wilms Tumor ◽  
Metastatic Tumor ◽  
Neurofibromatosis Type ◽  
Radiological Features ◽  
First Case ◽  
History Of ◽  
The Brain

The authors report the first case of a Wilms tumor (WT) with diffuse anaplasia metastatic to the brain in a 13-year-old girl with a history of neurofibromatosis Type 1. At presentation, the metastatic tumor had radiological features that suggested a meningioma. Histologically it was characterized by striking anaplasia and features similar to the patient's previously resected WT with diffuse anaplasia.

scholarly journals Plexiform Neurofibroma of Clitoris

2017 ◽  
Vol 06 (04) ◽  
pp. 244-246 ◽  
Author(s):  
Dhanya Yesodharan ◽  
Bindu Sudarsanan ◽  
Annie Jojo ◽  
Mohan Abraham ◽  
Nisha Bhavani ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Neurofibromatosis Type 1 ◽  
Plexiform Neurofibroma ◽  
Neurofibromatosis Type ◽  
Plexiform Neurofibromatosis

AbstractThe most frequent genital presentation of neurofibromatosis in females is clitoromegaly. We report a case of a 5-year-old girl with neurofibromatosis type 1 with clitoral plexiform neurofibromatosis. Clitoroplasty was done, and the histopathology confirmed the diagnosis. Though rare, plexiform neurofibroma of clitoris should always be considered as a differential diagnosis in children with clitoromegaly before embarking on detailed investigations.

scholarly journals Paediatric Extensive Cervical Plexiform Neurofibroma Mimicking a Parotid Lesion

2020 ◽  
Vol 26 (2) ◽  
pp. 60-67
Author(s):  
Iu Tong Lim ◽  
Avatar Singh Mohan Singh ◽  
Viji Ramasamy ◽  
Suhana Abdul Rahim ◽  
Piao Piao Ang ◽  
...  
Keyword(s):  
Genetic Disorder ◽  
Plexiform Neurofibroma ◽  
Neurofibromatosis Type ◽  
Café Au Lait Spots ◽  
Left Neck ◽  
History Of ◽  
One Year ◽  
Important Variant ◽  
Carotid Space

Neurofibromatosis Type 1 (NF1), also known as von Recklinghausen’s disease is a multisystem genetic disorder that occurs with an incidence of 1 in 4000 live births. Plexiform nmeurofibroma (PN) is a rare important variant of NF1, seen in 5 to 15% of cases. We report a 7-year-old boy, without family history of neurofibromatosis presented with left neck swelling associated with multiple café au lait spots for one-year duration. Computed tomography of head and neck revealed an extensive soft tissue lesion involving the left parapharyngeal, carotid space and parotid space encasing the left internal and common carotid artery until its origin at the arch of aorta with erosion of the basiocciput. He underwent transcervical excision of the lesion, which was confirmed histopathologically as PN.

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