scholarly journals Sepsis from Neurofibromatosis

2006 ◽  
Vol 33 (3) ◽  
pp. 328-328
Author(s):  
Navdeep Tangri ◽  
Shireen Sirhan ◽  
Gordon Crelinsten
Keyword(s):  
Autosomal Dominant ◽  
Clinical Manifestations ◽  
Neurofibromatosis Type ◽  
Large Mass ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
Autosomal Dominant Disorder ◽  
Chest Wound ◽  
History Of ◽  
The Right

Neurofibromatosis Type I or von Recklinghausen’s neurofibromatosis is an autosomal dominant disorder with a high index of spontaneous mutations and extremely varied and unpredictable clinical manifestations. We present a case of sepsis secondary to an infected hematoma, enclosed within a massive neurofibroma.A 42-year-old man presented to the emergency department with a one week history of fever and chills. He reported an increase in pain and size of a growth near his chest. The patient was noted to be febrile on arrival. On physical examination, a very large neurofibroma was seen extending from the right upper chest. Wound and blood cultures were obtained. Computed Tomography (CT) of the thorax revealed a hematoma contained within the large mass.

Superficial Femoral Vein Invasion by a Benign Neurofibroma in a Non-neurofibromatosis Patient: Case Report

Neurosurgery ◽  
2006 ◽  
Vol 58 (5) ◽  
pp. E997-E997 ◽  
Author(s):  
Claude-Edouard Châtillon ◽  
Marie-Christine Guiot ◽  
Marc-Michel Corriveau ◽  
Line Jacques
Keyword(s):  
Femoral Vein ◽  
Clinical Manifestations ◽  
Neurofibromatosis Type ◽  
Vascular Involvement ◽  
Surgical Removal ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
En Bloc ◽  
Superficial Femoral Vein ◽  
The Right

Abstract OBJECTIVE AND IMPORTANCE: Neurofibromas are benign neural sheath tumors arising from intraneural supporting cells. Such tumors are characteristic of neurofibromatosis Type I (von Recklinghausen disease) but also occur sporadically. Vascular involvement by neurofibromata is rare, but has been described in the past in the context of neurofibromatosis. There is, to our knowledge, no description of vascular involvement by a neurofibroma in a non-neurofibromatosis patient. CLINICAL PRESENTATION: A 40-year-old woman presented with a 4 year history of a right thigh mass associated with diffuse lower extremity pain. She had no other clinical manifestations of neurofibromatosis and no known family member with neurofibromatosis Type I. Magnetic resonance imaging scans revealed a well-defined solid mass in the anteromedial aspect of the right thigh closely associated with the superficial femoral vein. INTERVENTION: The vessel segment and encapsulated mass were resected “en bloc” after proximal and distal ligation of the vein. The pathological appearance of the mass was consistent with a benign neurofibroma that had infiltrated all layers of the vessel. CONCLUSION: Vessel invasion by a benign sporadic neurofibroma is a rare occurrence with potentially severe implications for the patient. It suggests that surgical removal of asymptomatic benign-appearing lesions of that type should be considered if they are adjacent to important anatomical structures.

scholarly journals Spontaneous Renal Artery Dissection in a Patient with Neurofibromatosis Type I

2016 ◽  
Vol 2016 ◽  
pp. 1-4
Author(s):  
Nicolas W. Shammas ◽  
Majid Z. Chammas ◽  
Jon Robken ◽  
Edmund Coyne
Keyword(s):  
Renal Artery ◽  
Treatment Options ◽  
Diagnostic Testing ◽  
Neurofibromatosis Type ◽  
Artery Dissection ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
Endovascular Stenting ◽  
History Of ◽  
Endovascular Approach

We present a case of spontaneous renal artery dissection (SRAD) in a 28-year-old female with history of neurofibromatosis type I (NF-1) treated successfully with endovascular stenting. The clinical presentation, diagnostic testing, and treatment options are discussed. An endovascular approach with stenting was successfully performed after failure of medical treatment with subcutaneous low molecular weight heparin. Patient’s blood pressure and symptoms improved significantly. This may be the first reported case of SRAD in a patient with NF-1 successfully treated with endovascular stenting.

scholarly journals Optic pathway gliomas associated with neurofibromatosis type I in children

2019 ◽  
Vol 18 (4) ◽  
pp. 29-38
Author(s):  
E. F. Valiakhmetova ◽  
N. A. Mazerkina ◽  
O. A. Medvedeva ◽  
Y. Y. Trunin ◽  
E. M. Tarasova ◽  
...  
Keyword(s):  
Survival Rate ◽  
Clinical Manifestations ◽  
Neurofibromatosis Type ◽  
Low Grade ◽  
Type I ◽  
Optic Pathway ◽  
Neurofibromatosis Type I ◽  
National Medical ◽  
Optic Pathway Gliomas ◽  
Visual Disturbances

Neurofibromatosis type I (NFI) is one of the most common brain tumor predisposition syndromes. Children with NFI are prone to develop a low grade gliomas, which can be localized in various areas of the brain, however, most of them occur in the structures of the optic pathway: optic nerves, chiasm, tracts and optic radiations – that is, are optic pathway gliomas (OPG). This retrospective study included children with newly diagnosied low grade glioma of the optic pathway at the age from 0 to 18 years with NFI, who underwent medical examination and / or treatment at the Burdenko Neurosurgery Institute from January 1, 2003 till December 31,2015. Atotal from 264 patients 42 (16%) had clinical manifestations of NFI. The ratio of boys and girls was 1:1. The median age was 4.25 years (range 4.5 months – 17 years). Visual disturbances were the most frequent clinical manifestation of the tumor. Surgical resection was performed in 18 patients. The remaining 24 patients OPG were diagnosed based on clinical and radiological findings: 9 patients were in observation group, 11 patients chemotherapy was carried out, three were given radiation therapy, and spontaneous regression of the tumor was recorded in 1 patient. Progression of the disease was observed in 14 patients in our cohort. The overall survival rate in patients with NFI was 98 ± 2% at 5 years. Event free survival rate was 68 ± 7% at 5 years.The study was approved by the Independent Ethics Committee of N.N. Burdenko National Medical Research Center of neurosurgery Ministry of healthcare ofRussian Federation.

scholarly journals Glioblastoma in the Cerebellopontine Angle in a Patient with Neurofibromatosis Type I: A Case Report and Review of the Literature

2019 ◽  
Vol 2 (02) ◽  
pp. 72-75
Author(s):  
Mohammad Kareem Shukairy ◽  
Andrea M. Ziegler ◽  
Douglas E. Anderson ◽  
John P. Leonetti
Keyword(s):  
Case Report ◽  
Cerebellopontine Angle ◽  
Malignant Tumors ◽  
Neurofibromatosis Type ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
Increased Risk ◽  
Facial Numbness ◽  
History Of ◽  
Pain Patients

Abstract Introduction Glioblastoma multiforme (GBM) is the most common primary brain malignancy in adults and is typically in the supratentorial cerebral hemispheres. It has been reported to occur in the posterior fossa at the cerebellopontine angle (CPA), but the incidence is extremely rare. Case Report We report a case of a patient with a history of neurofibromatosis type I (NFI) diagnosed with a GBM arising in the CPA after presenting with facial numbness and pain. Patients with NFI are known to have an increased risk of developing both benign and malignant tumors, including a propensity for brainstem gliomas. However, there is no known association between NFI and tumors of the CPA. We believe this is the first reported case of a GBM of the CPA in a patient with NFI. Conclusion Although rare, GBM should be included in the differential diagnosis of a patient with a CPA tumor, especially in patients with increased risk of malignant pathology.

scholarly journals Diagnosis of hereditary hemorrhagic telangiectasia in a pediatric patient admitted with diabetes: the utility of genetic testing

2021 ◽  
Vol 2 (3) ◽  
pp. 01-02
Author(s):  
Alvaro E. Galvis ◽  
Beatrice Batoczki ◽  
Iris S. Pecson ◽  
Evan Vidal ◽  
Craig T. Nakamura
Keyword(s):  
Genetic Testing ◽  
Pediatric Patient ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Autosomal Dominant ◽  
Wide Spectrum ◽  
Clinical Manifestations ◽  
Autosomal Dominant Disorder ◽  
Case Presentation ◽  
History Of ◽  
Vascular Dysplasia

Background: Hereditary hemorrhagic telangiectasia (HHT) formerly known as Osler-Weber-Rendu syndrome is a rare autosomal dominant disorder characterized by vascular dysplasia and a wide spectrum of clinical manifestations. Case presentation: We report the case of an undiagnosed pediatric patient who presented hypoxemia on clinical exam as the only suggestive feature for the presence of HHT. Conclusions: Although HHT diagnosis is based on the finding of characteristic clinical features genetic testing should also be implemented when a family history of the disease is present to help confirm or refute the diagnosis.

scholarly journals Efficacy of denosumab therapy for neurofibromatosis type I with osteoporosis and history of fractures: a case report

2018 ◽  
Vol Volume 14 ◽  
pp. 1243-1246 ◽  
Author(s):  
Masashi Uehara ◽  
Yukio Nakamura ◽  
Jun Takahashi ◽  
Mikio Kamimura ◽  
Fumihiro Isobe ◽  
...  
Keyword(s):  
Case Report ◽  
Neurofibromatosis Type ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
History Of

scholarly journals Large Invasive Adrenal Cortical Carcinoma in a Patient With Neurofibromatosis Type I

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A139-A139
Author(s):  
Brenda G Sandoval ◽  
Maria Del Mar Felix Morales ◽  
Joy Wortham ◽  
Maureen Koops ◽  
Ramona Granda-Rodriguez ◽  
...  
Keyword(s):  
Right Atrium ◽  
Renal Vein ◽  
Adrenal Mass ◽  
Left Renal Vein ◽  
Neurofibromatosis Type ◽  
Adrenal Cortical Carcinoma ◽  
Right Atrial ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
The Right

Abstract Background: Adrenal cortical carcinoma is a rare neoplasm. Adrenal cortical carcinoma has previously been reported in less than 10 cases of patients with Neurofibromatosis Type I. Clinical Case: A 44-year-old Hispanic man with Neurofibromatosis Type I (NF1) presented with progressive hypoxia, tachypnea and abdominal pain. Intubation was required with 100% FiO2. CT angiogram of the chest and abdomen showed a 9.5 cm left adrenal mass with tumor thrombus in the left adrenal vein, distal left renal vein, IVC extending into the right atrium, suggestive of an adrenocortical carcinoma. Café-au-spots, neurofibromas and Lisch nodules were seen on physical exam but no signs suggestive of a functional adrenal cortical carcinoma. Transthoracic echocardiogram demonstrated a large well circumscribed echo-dense mass filling the right atrial cavity. Hemodynamically he was unstable with labile blood pressures due to right atrium thrombus burden. He was supported pending pheochromocytoma investigation. Biochemical work up revealed an elevated 24-hour free cortisol concentration of 95.9 ug/d (<=60ug/d) with a normal 24-hour urine metanephrine and normetanephrine [140ug/d (55-320ug/d) and 448 ug/d (114-865ug/d]. Plasma free metanephrine level was normal 0.43 (0.00-0.49nmol/L) and the normetanephrine levels was increased at 2.7 (0.00-0.89nmol/L) consistent with stress response. Serum aldosterone level and renin activity with potassium and DHEA-S levels were normal. Once pheochromocytoma was ruled out, he successfully underwent a left nephrectomy, left adrenalectomy, IVC thrombectomy, right atrium thrombectomy under a multidisciplinary team of surgeons. Surgery was well tolerated and he was discharged home 11 days later. Pathology confirmed adrenal cortical carcinoma, stage 4, with involvement of endocardium and left renal vein with mitotic count greater than 20/50 high-power fields, consistent with a high-grade tumor. Summary: Patients with NF1 have a higher predilection to develop tumors including pheochromocytoma, paraganglioma, gastrointestinal stromal tumor, and pancreatic neuroendocrine tumor. NF1 association with adrenal tumors is well known, most commonly pheochromocytomas which occur in 0.1–5.7% of patients with NF1. However, based on a literature search there have been less than 10 case reports which postulate an association between NF1 and ACC. Genetic analysis of these reported cases suggest a loss of heterozygosity at the NF1 locus as a possible explanation of development of ACC in patients with NF1. Conclusion: Adrenal cortical carcinoma is rare but should be considered in a patient with NF1 and adrenal mass when plasma/urine metanephrines are not suggestive of pheochromocytoma.

scholarly journals A Rare Case of Type 1 Neurofibromatosis-Associated Unilateral Gigantomastia: A Case Report and Literature Review

2020 ◽  
Vol 6 ◽  
pp. 2513826X2096470
Author(s):  
Kim Phan ◽  
Muralie Vignarajah ◽  
Nasimul Huq
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Autosomal Dominant ◽  
Neurofibromatosis Type ◽  
Flap Reconstruction ◽  
Autosomal Dominant Disorder ◽  
Nerve Sheath ◽  
Type 1 Neurofibromatosis ◽  
The Right

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterized by the formation of benign nerve sheath tumours known as neurofibromas. A 28-year-old female presented with a large neurofibroma extending from the elbow of the right arm into the axilla and across the right breast. A mastectomy was performed to excise 4 kg of tissue with an immediate flap reconstruction. Post-operatively, the patient’s hemoglobin levels dropped significantly due to excessive blood loss, but the patient was discharged by post-operative day 5 with no additional complications. This study raises awareness for NF1, describes possible complications that may arise following excision of highly vascularized neurofibromas, and outlines possible techniques for breast reconstruction.

Sign in / Sign up

Export Citation Format

Share Document