scholarly journals Deep Vein Thrombosis in the Setting of Neurofibromatosis Type 1: Case Report

2021 ◽  
Author(s):  
Fernando Guedes ◽  
Francisco Torrão ◽  
Gabriel E. Sanches ◽  
Ana Caroline Siquara-de-Sousa ◽  
Arno von Ristow ◽  
...  
Keyword(s):  
Deep Vein Thrombosis ◽  
Surgical Resection ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Neurological Deficits ◽  
Histopathological Diagnosis ◽  
Genetic Syndrome ◽  
Vein Thrombosis ◽  
Deep Vein

Abstract Background Neurofibromatosis type 1 (NF1) is a genetic syndrome which typically presents with neurological manifestations. Some of the patients may also present with vasculopathies, among which arterial aneurysms and stenosis are the most common. Deep vein thrombosis (DVT) has rarely been described, and, to the best of our knowledge, the present is the first report of DVT due to venous compression by a neurofibroma in the setting of NF1. Case presentation This is the case of a 23-year-old male with NF1 who experienced DVT due to compression of the left posterior tibial veins by a large tumor arising from the tibial nerve. The DVT was acutely treated with enoxaparin and then with rivaroxaban. Two months after the diagnosis, Doppler ultrasonography showed partial recanalization and persistence of the DVT. The patient was then referred to neurosurgery for surgical resection of the tumor. There were no complications during the procedure, and the patient did not present postoperative neurological deficits. The final histopathological diagnosis was of a benign neurofibroma. After one year of follow-up with vascular surgery, the patient presented no more episodes of DVT. Conclusion In case there is a tumor compressing the deep vessels of the leg and promoting DVT, surgical resection with microsurgical techniques may be curative.

Deep vein thrombosis caused by an exostosis in an adolescent patient with peripheral neurofibromatosis type 1

VASA ◽  
2015 ◽  
Vol 44 (3) ◽  
pp. 0233-0236
Author(s):  
Wiesława Kwiatkowska ◽  
Stanisław Ferenc ◽  
Patryk Romaszkiewicz ◽  
Zygmunt Chmielecki ◽  
Jan Gnus ◽  
...  
Keyword(s):  
Deep Vein Thrombosis ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Adolescent Patient ◽  
Vein Thrombosis ◽  
Deep Vein

scholarly journals Surgical resection of rare internal jugular vein aneurysm in neurofibromatosis type 1

2017 ◽  
Vol 5 (12) ◽  
pp. 419-422 ◽  
Author(s):  
Khortnal Delvecchio ◽  
Fazaldin Moghul ◽  
Bipinchandra Patel ◽  
Susan Seman
Keyword(s):  
Surgical Resection ◽  
Internal Jugular Vein ◽  
Neurofibromatosis Type 1 ◽  
Jugular Vein ◽  
Neurofibromatosis Type

scholarly journals Intestinal Obstruction and Pheochromocytoma in a Patient Suffering from von Recklinghausen's Disease

2009 ◽  
Vol 2 ◽  
pp. CMED.S3315
Author(s):  
B. Bouhanick ◽  
M. Berry ◽  
S. Hascouet ◽  
J. Selves ◽  
J.M. Coindre ◽  
...  
Keyword(s):  
Adrenal Gland ◽  
Intestinal Obstruction ◽  
Surgical Resection ◽  
Neurofibromatosis Type 1 ◽  
Complex Disease ◽  
Malignant Tumors ◽  
Neurofibromatosis Type ◽  
Left Adrenal Gland ◽  
Inherited Diseases

GISTs are rare neoplasms, which were recently identified to be a distinct pathologic entity. They can develop in patients with neurofibromatosis type 1 (NF1) or may be sporadic. NF1 is one of the most common inherited diseases and is a complex disease, with patients having an increased prevalence of benign and malignant tumors, including pheochromocytomas. The association of pheochromocytoma(s) and GISTs in NF1 is very rare. We report an additional case of this triple association in a normotensive 60-year-old female with NF1 admitted for intestinal obstruction: a pheochromocytoma of the left adrenal gland was discovered and surgical resection is performed. We provide an overview of the literature. The coexistence of NF1-related pheochromocytoma and GISTs is uncommon, but perhaps not fortuitous, and endocrinologists should be aware of this.

PULMONARY EMBOLISM AFTER SURGICAL RESECTION OF A MENINGIOMA

Vestnik ◽  
2021 ◽  
pp. 118-121
Author(s):  
Е.К. Дюсембеков ◽  
Е.Б. Алгазиев ◽  
А.К. Жанисбаев ◽  
С.М. Анартаев ◽  
И.А. Канлов ◽  
...  
Keyword(s):  
Pulmonary Embolism ◽  
Deep Vein Thrombosis ◽  
Surgical Resection ◽  
Anticoagulant Therapy ◽  
Clinical Case ◽  
Massive Pulmonary Embolism ◽  
Multidisciplinary Teams ◽  
Vein Thrombosis ◽  
Surgical Methods ◽  
Deep Vein

В статье представлен клинический случай успешного лечения острой массивной тромбоэмболии лёгочной артерии у пациента после удаления менингиомы. Известно, что частота тромбозов глубоких вен нижних конечностей (ТГВ) в нейрохирургической практике достаточно высока, и может достигать 25-34%. ТГВ является основной причиной более грозной тромбоэмболии легочной артерии (ТЭЛА), частота которой составляет от 1,5% до 3%. На сегодняшний день медицина располагает несколькими эффективными инструментами лечения пациентов с ТЭЛА: от антикоагулянтной терапии до хирургических методов реперфузии. Благодаря слаженной работе в современных многопрофильных клиниках интервенционных кардиохирургов, реаниматологов и нейрохирургов, обеспечивающих своевременную и высокоспециализированную помощь, становится возможным спасение жизней пациентов даже с такой тяжелой и жизнеугрожающей патологией как острая массивная тромбоэмболия легочных артерий. The article presents a clinical case of successful treatment of acute massive pulmonary embolism in a patient after resection of a meningioma. The incidence of Deep vein thrombosis (DVT) in neurosurgical practice is astonishingly high as it might reach 25-34% in some reports, and represents the first cause for pulmonary embolism (PE), which incidence is thought to be between 1,5% and 3%. Nowadays there are several options for treating patients with pulmonary embolism: from anticoagulant therapy to surgical methods of reperfusion. Effective multidisciplinary teams and coordinated team in our clinics can save the lives of people with pulmonary embolism.

scholarly journals Choroidal Ganglioneuroma: An Unexpected Diagnosis

2021 ◽  
Vol 156 (Supplement_1) ◽  
pp. S87-S88
Author(s):  
A C Srivastava ◽  
V Shenoy
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Ganglion Cells ◽  
Histopathological Examination ◽  
Neurofibromatosis Type ◽  
Congenital Glaucoma ◽  
Optic Pathway Glioma ◽  
Benign Tumors ◽  
Histopathological Diagnosis ◽  
The Right

Abstract Introduction/Objective Ganglioneuromas are rare, fully differentiated, benign neuronal tumors arising from neural crest cells anywhere along the sympathetic nervous system. However, they can undergo dedifferentiation and give rise to malignant neuroblastoma and ganglioneuroblastoma. Choroidal ganglioneuroma is exceptionally rare and usually an unexpected histopathological diagnosis. We report a pediatric patient with neurofibromatosis type 1, who underwent evisceration of a painful blind eye with subsequent histopathological examination confirming a diagnosis of choroidal ganglioneuroma. Methods/Case Report A 15-year-old boy with a medical history of neurofibromatosis type 1, plexiform neurofibroma of the right face and right orbit, right optic pathway glioma, and right painful blind eye secondary to congenital glaucoma underwent evisceration of the right eye with placement of orbital implant. On histopathological examination a choroidal lesion was identified adjacent to the pigmented retinal epithelium. This lesion showed proliferation of spindle-shaped cells admixed with clusters of ganglion cells. There were no signs of atypia, necrosis, or pleomorphism. The ganglion cells showed abundant cytoplasm with large vesicular nucleus and prominent nucleoli. The spindle cells were positive for S-100 immunostain and the ganglion cells were positive for synaptophysin. These findings were diagnostic of choroidal ganglioneuroma. Results (if a Case Study enter NA) NA Conclusion Choroidal ganglioneuroma, in addition to being a clinically unsuspected diagnosis, is exceptionally rare in patients with neurofibromatosis type 1. Medical literature on choroidal ganglioneuroma is sparse, however, it is reported that these benign tumors can locally recur with malignant transformation, and therefore close follow-up is advised.

scholarly journals Parathyroid Carcinoma Causing Mild Hyperparathyroidism in Neurofibromatosis Type 1: A Case Report and Systematic Review

2019 ◽  
Vol 19 (3) ◽  
pp. 382-388
Author(s):  
Vincenzo Triggiani ◽  
Marco Castellana ◽  
Paolo Basile ◽  
Giuseppina Renzulli ◽  
Vito Angelo Giagulli
Keyword(s):  
Systematic Review ◽  
Case Report ◽  
Primary Hyperparathyroidism ◽  
Neurofibromatosis Type 1 ◽  
Parathyroid Carcinoma ◽  
Histopathological Examination ◽  
Neurofibromatosis Type ◽  
Ultrasound Finding ◽  
Histopathological Diagnosis

Background:Neurofibromatosis type 1 is an autosomal dominant disorder characterized by an increased incidence of tumors, including endocrine ones. Primary hyperparathyroidism can be rarely caused by a parathyroid carcinoma; these patients are generally characterized by severe symptoms, large neck lesions and high levels of PTH and calcium. We report a case of hyperparathyroidism due to parathyroid carcinoma in a patient affected by neurofibromatosis type 1. A systematic review of the literature was also conducted.Patient Findings:A 56-year-old woman was referred for a 13 mm-nodular lesion of the neck incidentally discovered on ultrasound examination and mild hyperparathyroidism. A 99mTctetrofosmin/ pertechnetate subtraction scintigraphy was negative for parathyroid disease. Given the absence of suspicious ultrasound finding, a fine-needle aspiration cytology was performed with iPTH determination in the aspirate, confirming the parathyroid origin of the lesion. The patient underwent left inferior parathyroidectomy with intraoperative monitoring of iPTH and became normocalcemic. On histopathological examination, parathyroid carcinoma presenting at the resection margin was diagnosed, thus a surgery revision was requested.Conclusion:Even if literature does not support a syndromic association between neurofibromatosis type 1 and primary hyperparathyroidism, the benefit of precociously diagnosing and treating this condition may outweigh costs associated with screening. This case report moreover demonstrates that sometimes clinical, laboratory and imaging aspects suspicious for cancer may be missing. A prompt referral to a high-volume center is crucial for the management of those cases of incidental histopathological diagnosis.

scholarly journals Malignant Triton tumor in the retroperitoneal space associated with neurofibromatosis type 1: a case study

Rare Tumors ◽  
2009 ◽  
Vol 1 (2) ◽  
pp. 82-84
Author(s):  
Sojun Hoshimoto ◽  
Zenichi Morise ◽  
Chinatsu Takeura ◽  
Masahiro Ikeda ◽  
Tadashi Kagawa ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Abdominal Mass ◽  
Tumor Resection ◽  
Psoas Muscle ◽  
Neurofibromatosis Type ◽  
Retroperitoneal Space ◽  
Histopathological Diagnosis ◽  
Nerve Sheath Tumor ◽  
Malignant Triton Tumor

We report an extremely rare case of malignant Triton tumor developing in the retroperitoneal space in a patient with neurofibromatosis type 1. A 21-year old man who had been diagnosed with neurofibromatosis type 1 was admitted to our hospital with the chief complaint of a palpable abdominal mass. Abdominal computed tomography revealed a huge heterogeneous tumor measuring approximately 17 cm in diameter occupying the left retroperitoneal space, and numerous metastatic lesions between the left psoas muscle and the left thigh with dissolution of the left hip joint. After the diagnosis of a retroperitoneal malignant neurogenic tumor, resection of the tumor with reconstruction of the abdominal aorta was conducted, followed by postoperative transarterial infusion chemotherapy. The histopathological diagnosis was malignant peripheral nerve sheath tumor with rhabdomyosarcomatous differentiation, namely malignant Triton tumor. Postoperative chemotherapy was in vain and the patient died 14 months after the surgery as a result of lung metastasis.

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