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

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.

Neurofibromin-deficient fibroblasts fail to form perineurium in vitro

Development ◽  
1995 ◽  
Vol 121 (11) ◽  
pp. 3583-3592
Author(s):  
T. Rosenbaum ◽  
Y.L. Boissy ◽  
K. Kombrinck ◽  
C.I. Brannan ◽  
N.A. Jenkins ◽  
...  
Keyword(s):  
Schwann Cells ◽  
Neurofibromatosis Type 1 ◽  
Fibroblast Cell ◽  
Neurofibromatosis Type ◽  
Type I ◽  
Nerve Sheath Tumors ◽  
Cell Strains ◽  
Perineurial Cells

To identify cell type(s) that might contribute to nerve sheath tumors (neurofibromas) in patients with neurofibromatosis type 1, we generated cell cultures containing neurons. Schwann cells and fibroblasts from transgenic mouse embryos in which the type 1 neurofibromatosis gene was disrupted by homologous recombination (Brannan et al. (1994) Genes Development, 8,1019-1029). Normal fascicle formation by perineurial cells failed to occur in the absence of neurofibromin. Fascicles were reduced in number and showed abnormal morphology when normal neurons and Schwann cells were cultured up to 37 days with fibroblasts lacking neurofibromin. Proliferation was increased in a majority of fibroblast cell strains analyzed from embryos lacking neurofibromin. These observations suggest that mutations in the neurofibromatosis type I gene affect fibroblast behavior that might contribute to neurofibroma formation in patients with neurofibromatosis type 1.

scholarly journals Neurosurgical implications of neurofibromatosis Type I in children

2006 ◽  
Vol 20 (6) ◽  
pp. 1-6 ◽  
Author(s):  
Merdas Al-Otibi ◽  
James T. Rutka
Keyword(s):  
Peripheral Nerves ◽  
Neurofibromatosis Type ◽  
Chromosome 17 ◽  
Low Grade ◽  
Type I ◽  
Chiari Malformation Type I ◽  
Orthopedic Surgeons ◽  
Real Risk ◽  
The Brain

Neurofibromatosis Type 1 (NF1) is one of the most common inherited diseases in humans. It is caused by a mutation in the NF1 gene on chromosome 17, and is associated with numerous central and peripheral nervous system manifestations. Children with NF1 are at high risk of harboring numerous lesions that may require the attention of a neurosurgeon. Some of these include optic nerve gliomas, hydrocephalus, intraspinal tumors, and peripheral nerve tumors. Although most of the neoplasms that affect the brain, spine, and peripheral nerves of children are low-grade lesions, there is a small but real risk that some of these lesions may become high grade over time, requiring other forms of therapy than surgery alone. Other associated disorders that may result from NF1 in childhood include Chiari malformation Type I, scoliosis, and pulsating exophthalmos from the absence of the sphenoid wing. In this review, the major lesions that are found in children with NF1 are reviewed as well as the types of treatment that are offered by neurosurgeons and other members of the treating team. Today, optimum care of the child with NF1 is provided by a multidisciplinary team comprising neurosurgeons, neurologists, ophthalmologists, radiologists, orthopedic surgeons, and plastic surgeons.

Sonographic imaging of the peripheral nerves in a patient with neurofibromatosis type 1

2010 ◽  
Vol 41 (6) ◽  
pp. 887-888 ◽  
Author(s):  
Murat Kara ◽  
Alize Yılmaz ◽  
Sumru Özel ◽  
Levent Özçakar
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Peripheral Nerves ◽  
Neurofibromatosis Type ◽  
Sonographic Imaging

CO2 Laser Treatment of Neurofibromas of Patients with Neurofibromatosis Type 1:Five Years Experience

2001 ◽  
Vol 16 (4) ◽  
pp. 265-274 ◽  
Author(s):  
Bernd Algermissen ◽  
Ute Müller ◽  
Dimitrije Katalinic ◽  
H.-Peter Berlien
Keyword(s):  
Laser Treatment ◽  
Co2 Laser ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Co2 Laser Treatment

Massive spontaneous haemoperitoneum in a post-partum patient with neurofibromatosis type 1

2020 ◽  
Vol 67 (4) ◽  
pp. 219-222
Author(s):  
M.D. Sánchez-Contreras ◽  
C. Sánchez-Andrés ◽  
M. Valiente Mateos ◽  
G. Ayas Faus ◽  
V. Domingo Triadó
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Post Partum ◽  
Neurofibromatosis Type

Neurofibromatosis type 1 and type I Chiari malformation: an unusual association

1996 ◽  
Vol 12 (6) ◽  
pp. 336-338 ◽  
Author(s):  
P. A. Battistella ◽  
G. Perilongo ◽  
C. Carollo
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Chiari Malformation ◽  
Neurofibromatosis Type ◽  
Type I ◽  
Unusual Association

scholarly journals Cervical and Spinal Plexiform Neurofibroma: A Case Report

2021 ◽  
pp. 1-3
Author(s):  
El Azzouzi B ◽  
◽  
Zouita I ◽  
Benfaddoul O ◽  
Basraoui N ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Peripheral Nerves ◽  
Benign Tumor ◽  
Plexiform Neurofibroma ◽  
Neurofibromatosis Type ◽  
Von Recklinghausen Disease ◽  
Rare Benign Tumor ◽  
Recklinghausen Disease ◽  
Von Recklinghausen

Plexiform neurofibroma is a rare benign tumor of the peripheral nerves at the expense of perineural connective cells. It is pathognomonic of neurofibromatosis type 1 (NF1 or Von Recklinghausen disease). MRI is of great help in the diagnosis of this pathology. Anatomopathological confirmation is sometimes necessary, especially in the absence of a context suggestive of NF1. We report the observation of an oung boy with a cervical plexiform neurofibroma revealing a neurofibromatosis Type 1

scholarly journals The recurrent plexiform neurofibroma of the scalp in neurofibromatosis type 1: illustrative case

2021 ◽  
Vol 1 (2) ◽  
Author(s):  
Galih Indra Permana ◽  
M. Arifin Parenrengi ◽  
Wihasto Suryaningtyas ◽  
Dyah Fauziah ◽  
Muhammad Azzam
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Peripheral Nerves ◽  
Symptomatic Relief ◽  
Operative Procedure ◽  
Plexiform Neurofibroma ◽  
Tumor Resection ◽  
Neurofibromatosis Type ◽  
Illustrative Case ◽  
Unusual Variant

BACKGROUNDPlexiform neurofibroma is a benign tumor of the peripheral nerves. It is an unusual variant of neurofibroma originating from all parts of the nerve. Plexiform neurofibroma is primarily pathognomonic and exhibits an unusual variant from neurofibromatosis type 1 (NF1). The possibility of malignancy and recurrence are the main reasons for long-term, close follow-up.OBSERVATIONSThe authors report a case of a 14-year-old girl with a recurrent plexiform neurofibroma derived from the peripheral nerves, which also presented with a typical sign of NF1 disease. The aim of the tumor resection is symptomatic relief.LESSONSAccomplishing a good outcome can be related to good perioperative planning and a precise operative procedure. The result of anatomical pathology determines the prognosis of the patient. Clinical examination and radiological studies are needed to evaluate the recurrence of complications after surgical procedures.

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