scholarly journals Imaging Findings of Jugular Foramen Meningocele in a Neurofibromatosis Type 1 Patient

2017 ◽  
Vol 2017 ◽  
pp. 1-3
Author(s):  
Mehmet Serindere ◽  
Mustafa Tasar ◽  
Salih Hamcan ◽  
Ugur Bozlar
Keyword(s):  
English Literature ◽  
Neurofibromatosis Type ◽  
Jugular Foramen ◽  
Type I ◽  
Skull Defects ◽  
Neurocutaneous Disorder ◽  
Calvarial Defects ◽  
Sphenoid Dysplasia ◽  
Rare Instance

Neurofibromatosis type I (NF1) is a neurocutaneous disorder that involves autosomal dominant transmission. Skull defects, including sphenoid dysplasia and calvarial defects, are a rare finding in patients with NF1. Spinal meningocele and sphenoid wing dysplasia have been identified in NF1 but the occurrence of meningoceles at the skull base is extremely rare. A rare instance of jugular foramen meningocele being identified in an NF1 patient on imaging is described in this paper. To the best of our knowledge, only two such cases have been reported in the English literature.

Calvarial defects and skeletal dysplasia in patients with neurofibromatosis Type 1

2013 ◽  
Vol 11 (4) ◽  
pp. 410-416 ◽  
Author(s):  
Daniel K. Arrington ◽  
Amy R. Danehy ◽  
Analise Peleggi ◽  
Mark R. Proctor ◽  
Mira B. Irons ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Plexiform Neurofibroma ◽  
Neurofibromatosis Type ◽  
Skull Defect ◽  
Dural Ectasia ◽  
Skull Defects ◽  
Calvarial Defects ◽  
Sphenoid Dysplasia ◽  
The Mean

Object Skull defects, including sphenoid dysplasia and calvarial defects, are rare but distinct findings in patients with neurofibromatosis Type 1 (NF1). The underlying pathophysiology is unclear. The goal of this study was to identify the clinical characteristics and natural history of skull defects in patients with NF1. Methods An electronic search engine of medical records was used to identify patients with NF1 and bony skull anomalies. All clinical, radiographic, pathology, and operative reports were reviewed. The relationship between bony anomalies and significant clinical associations was evaluated. This study received institutional review board approval. Results Twenty-one patients were identified. The mean age at NF1 diagnosis was 4.2 years. The mean age at skull defect diagnosis was 8.8 years (9.7 years in the sphenoid wing dysplasia group and 11.9 years in the calvarial defect group). Sphenoid dysplasia was associated with a plexiform neurofibroma or dural ectasia in 73.3% and 80.0% of cases, respectively. Calvarial defects were associated with a plexiform neurofibroma or dural ectasia in 66.7% and 33.3% of patients, respectively. An absence of either an associated neurofibroma or ectasia was not noted in any patient with sphenoid wing dysplasia or 25.0% of those with calvarial defects. In 6 patients, both types of skull defects presented simultaneously. Serial imaging studies were obtained for a mean follow-up time of 7.5 years (range 0.4–20.0 years). Of these patients with serial imaging, radiographic progression was found in 60% of cases of calvarial defects and 56% of cases of sphenoid wing dysplasia. Two patients underwent surgical repair of a skull defect, and both required repeat procedures. Conclusions The majority of skull defects in patients with NF1 were associated with an adjacent structural lesion, such as a plexiform neurofibroma or dural ectasia. This findings from this cohort also support the concept of progression in defect size in more than half of the patients. Potential mechanisms by which these secondary lesions contribute to pathogenesis of the bony defect may include changes in the bony microenvironment. A better understanding of the pathophysiology of skull defects will help guide detection, improve treatment and outcome, and may contribute to the understanding of the pathogenesis of bony lesions in NF1.

The Association of Chiari Type I Malformation and Neurofibromatosis Type 1

1993 ◽  
Vol 32 (3) ◽  
pp. 189-190 ◽  
Author(s):  
Joseph Dooley ◽  
Daniel Vaughan ◽  
Michael Riding ◽  
Peter Camfield
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Chiari Malformation ◽  
Neurofibromatosis Type ◽  
Foramen Magnum ◽  
Type I ◽  
Chiari Type ◽  
Chiari Type I Malformation ◽  
Chiari Type I ◽  
Chiari Malformations

The association of neurofibromatosis type 1 (NF1) with Chiari malformations of the cerebellum and brain stem has been reported on only two previous occasions.1,2 The pathogenesis of both conditions has remained unclear, although the Chiari type I malformation is most likely due to hypoplasia of the posterior fossa with subsequent extension of the cerebellum through the foramen magnum.3 NF1 is also associated with a variety of cerebral dysplasias.4 We present a patient with both of these dysplastic lesions whose Chiari malformation was asymptomatic.

Sphenoid dysplasia in neurofibromatosis type 1: a new technique for repair

2017 ◽  
Vol 33 (6) ◽  
pp. 983-986 ◽  
Author(s):  
Di Rocco Concezio ◽  
Samii Amir ◽  
Tamburrini Gianpiero ◽  
Massimi Luca ◽  
Giordano Mario
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
New Technique ◽  
Sphenoid Dysplasia ◽  
A New Technique

scholarly journals Spontaneous hemothorax associated with neurofibromatosis type I: A review of the literature

2014 ◽  
Vol 05 (03) ◽  
pp. 269-271 ◽  
Author(s):  
Swaroopa Pulivarthi ◽  
Byron Simmons ◽  
John Shearen ◽  
Murali Krishna Gurram
Keyword(s):  
Surgical Treatment ◽  
Neurofibromatosis Type ◽  
Benign Disease ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
Review Of The Literature ◽  
Spontaneous Hemothorax ◽  
Massive Hemothorax ◽  
Fatal Complications

ABSTRACTNeurofibromatosis is generally a benign disease, but has the potential for rare and fatal complications, such as spontaneous hemothorax. We report a case of massive hemothorax due to neurofibroma in a 49-year-old woman with neurofibromatosis type 1. The configuration of the radiological opacity and frank blood withdrawn on thoracentesis should suggest the diagnosis of hemothorax in a patient with neurofibromatosis. Surgical treatment for hemothorax is limited by arterial fragility and the prognosis is relatively poor. Any evidence of aneurysmal disease in the thoracic vessels should be aggressively managed percutaneously by coil embolization to prevent future rupture.

scholarly journals Moyamoya syndrome associated with neurofibromatosis type I in a pediatric patient

2011 ◽  
Vol 129 (2) ◽  
pp. 110-112 ◽  
Author(s):  
Luiz Guilherme Darrigo Júnior ◽  
Elvis Terci Valera ◽  
André de Aboim Machado ◽  
Antonio Carlos dos Santos ◽  
Carlos Alberto Scrideli ◽  
...  
Keyword(s):  
Moyamoya Disease ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Neurofibromatosis Type ◽  
Type I ◽  
Moyamoya Syndrome ◽  
Radiological Findings ◽  
Convulsive Seizures ◽  
Age Range

CONTEXT: Neurofibromatosis type 1 (NF-1) is the most prevalent autosomal dominant genetic disorder among humans. Moyamoya disease is a cerebral vasculopathy that is only rarely observed in association with NF-1, particularly in the pediatric age range. The present study reports an occurrence of this association in an infant. CASE REPORT: An eight-month-old female presented convulsive seizures with clonic movements. The patient suffered an ischemic stroke with hemiparesis. Magnetic resonance imaging revealed radiological findings compatible with moyamoya disease. The diagnosis of NF-1 was made at the age of 20 months. CONCLUSION: Despite the rarity of this association in childhood, children with focal neurological symptoms and a diagnosis of NF-1 deserve to be investigated for moyamoya syndrome.

scholarly journals Glioblastoma Multiforme in the Posterior Cranial Fossa in a Patient with Neurofibromatosis Type I

2009 ◽  
Vol 2009 ◽  
pp. 1-4 ◽  
Author(s):  
Marike L. D. Broekman ◽  
Roelof Risselada ◽  
JooYeon Engelen-Lee ◽  
Wim G. M. Spliet ◽  
Bon H. Verweij
Keyword(s):  
Neurofibromatosis Type ◽  
Type I ◽  
High Grade ◽  
High Grade Astrocytoma ◽  
Increased Risk ◽  
Pilocytic Astrocytomas ◽  
Benign Nature ◽  
Cranial Fossa ◽  
The Brain

Patients with Neurofibromatosis type 1 (NF1) have an increased risk of developing neoplasms. The most common brain tumors, found in 15%–20% of NF1 patients, are hypothalamic-optic gliomas, followed by brainstem and cerebellar pilocytic astrocytomas. These tumors generally have a benign nature. NF1 patients are predisposed to a 5-fold increased incidence of high-grade astrocytomas, which are usually located in supratentorial regions of the brain. We present an NF1 patient who developed a high-grade astrocytoma in the posterior fossa and discuss possible pathophysiological mechanisms.

scholarly journals Intraorbital ancient pilocytic astrocytoma of the optic nerve in neurofibromatosis type 1 patient presenting with sudden ocular pain

2018 ◽  
Vol 6 ◽  
pp. 2050313X1876131
Author(s):  
Haesu Lee Motoyama ◽  
Sohsuke Yamada ◽  
Satoko Nakada ◽  
Nozomu Kurose ◽  
Akihide Tanimoto
Keyword(s):  
Optic Nerve ◽  
Neurofibromatosis Type 1 ◽  
Pilocytic Astrocytoma ◽  
English Literature ◽  
Neurofibromatosis Type ◽  
Close Correlation ◽  
Cystic Degeneration ◽  
Ocular Pain ◽  
Fluid Production

Optic nerve pilocytic astrocytoma is an uncommon but well-known entity; however, intraorbital ancient pilocytic astrocytoma of the optic nerve is extremely rarely reported. To our knowledge, this is the first detailed description regarding the intraorbital ancient pilocytic astrocytoma, reported in available English literature, to date. We presented an extremely unusual neurofibromatosis type 1 case of a 17-year-old male’s sudden ocular pain secondary to intraorbital pilocytic astrocytoma of the optic nerve with markedly cystic degeneration, fluid production, and hemorrhage, due to ancient and possibly ruptured glioma. Future prospective studies are required to validate the significance of intraorbital ancient pilocytic astrocytoma arising from the optic nerve and the close correlation with ruptured cystic degeneration and ocular pain, after collecting and investigating a larger number of its cases examined.

scholarly journals CO2 Laser Ablation for the Manifestations of Multiple Cutaneous Neurofibromas in an Adult with Neurofibromatosis Type 1(NF1)

2021 ◽  
Vol 9 (1) ◽  
Author(s):  
Nicholas Calvin
Keyword(s):  
Laser Ablation ◽  
Co2 Laser ◽  
Neurofibromatosis Type 1 ◽  
Peripheral Nerves ◽  
Post Partum ◽  
Neurofibromatosis Type ◽  
Type I ◽  
Conventional Surgery ◽  
Co2 Laser Ablation

Introduction: Neurofibromatosis type 1 is a rare genetic disorder that is characterized by the growth of noncancerous neurocutaneous tumors that form near the spinal cord and along the peripheral nerves in the body. Symptoms NF-1 are usually detected in infancy or early childhood. However, in some cases, children and adults without family history may have a spontaneous genetic mutation of unknown cause. There are several modalities to treat NF-1, which include conventional surgery removal and CO2 laser ablation. The review of literature aims to compare the efficacy and outcomes of these two modalities. Case presentation: A 32-year old post-partum Australian woman is presented to the neurosurgery department outpatient clinic. When she was around 20-year old, non-painful multiple noncancerous growth along her spine and peripheral nerves and multiple café-au-lait spots started to appear. The size and numbers of growth and spots are gradually increasing as she aged. The diagnosis of NF-1 was made according to the presence of four of the seven diagnostic criteria of the National Institute of Health Consensus Development Conference. Patient is scheduled to go to NF clinic 2 months after the meeting, in which the patient is planned to undergo a treatment of CO2 laser ablation. Conclusions: Studies have shown that CO2 has outperformed conventional surgery in managing the clinical manifestation of NF-1 in term of effectivity and cosmetic outcomes.  Keywords: neurofibromatosis type I, von Recklinghausen’s disease, adult, post-partum woman, CO2 laser ablation

Neurofibromatosis Type 1

2017 ◽  
Author(s):  
David S. Wolf
Keyword(s):  
Learning Disabilities ◽  
Neurofibromatosis Type 1 ◽  
Autosomal Dominant ◽  
Neurofibromatosis Type ◽  
Vascular Abnormalities ◽  
Hyperactivity Disorder ◽  
Café Au Lait Spots ◽  
Lisch Nodules ◽  
Neurocutaneous Disorder

Neurofibromatosis type 1 is a common, autosomal dominant, monogenetic neurocutaneous disorder. It is characterized by café au lait spots, axillary and inguinal freckling, Lisch nodules, optic pathway gliomas, neurofibromas, and distinctive bony abnormalities. Also associated with this condition are other central nervous system tumors, scoliosis, hypertension, vascular abnormalities, and cognitive issues such as learning disabilities and attention deficit-hyperactivity disorder.

A 17-Year-Old Male with Large Retropharyngeal Neurofibroma as the Only Symptom of Neurofibromatosis Type 1 (NF1): A Case Report and Review of Literature

2019 ◽  
Author(s):  
Heather A. Voss-Hoynes ◽  
Naeem Mahfooz ◽  
Waseem Ostwani
Keyword(s):  
Plexiform Neurofibroma ◽  
Neurofibromatosis Type ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
Review Of Literature ◽  
Unique Case ◽  
Lower Lip ◽  
Head And Neck Imaging ◽  
Extensive Involvement

AbstractRetropharyngeal neurofibromas are rarely described in the literature and are commonly associated with severe airway-related symptoms. We report a unique case of a large retropharyngeal plexiform neurofibroma in an asymptomatic 17-year-old male patient. This patient was asymptomatic and presented for lower lip edema secondary to an insect bite. Head and neck imaging demonstrated an extensive retropharyngeal neurofibroma measuring 5.7 cm × 2.2 cm × 6.8 cm. Because of extensive involvement of cervical vasculature, the lesion was not resected in our institution and his care was referred to a large neurofibromatosis type I center.

Sign in / Sign up

Export Citation Format

Share Document