Neurofibromatosis Type I: Genetics and Clinical Manifestations

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.

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Sepsis from Neurofibromatosis

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques ◽

10.1017/s0317167100005242 ◽

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.

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Neurofibroma of the Palate

Case Reports in Dentistry ◽

10.1155/2014/898505 ◽

2014 ◽

Vol 2014 ◽

pp. 1-4 ◽

Cited By ~ 2

Author(s):

Tirumalasetty Sreenivasa Bharath ◽

Yelamolu Rama Krishna ◽

Govind Rajkumar Nalabolu ◽

Swetha Pasupuleti ◽

Suneela Surapaneni ◽

...

Keyword(s):

Clinical Manifestations ◽

Immunohistochemical Analysis ◽

Neurofibromatosis Type ◽

Clinical Findings ◽

Type I ◽

Nerve Sheath Tumor ◽

Neurofibromatosis Type I ◽

Solitary Lesion ◽

Nerve Sheath ◽

Different Types

Neurofibroma is a benign peripheral nerve sheath tumor comprising variable mixture of Schwann cells, perineurial-like cells, and fibroblasts. Neurofibroma may occur as solitary lesion or as part of a generalised syndrome of neurofibromatosis or very rarely as multiple neurofibromas without any associated syndrome. There are two distinct variants of neurofibromatosis type I and type II. We present a case of neurofibroma of the hard palate associated with neurofibromatosis type I. The diagnosis of the lesion was made based on the clinical findings, family history, histopathology, and immunohistochemistry. Literature was reviewed and different types of neurofibroma, their incidence and frequency in the oral cavity, its association with neurofibromatosis, clinical manifestations, histopathologic characteristics, immunohistochemical analysis, behaviour, treatment, and recurrence are discussed.

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

Neurosurgery ◽

10.1227/01.neu.0000210293.67328.a7 ◽

2006 ◽

Vol 58 (5) ◽

pp. E997-E997 ◽

Cited By ~ 5

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.

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Optic pathway gliomas associated with neurofibromatosis type I in children

Pediatric Hematology/Oncology and Immunopathology ◽

10.24287/1726-1708-2019-18-4-28-38 ◽

2019 ◽

Vol 18 (4) ◽

pp. 28-38

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.

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CASE OF NEUROFIBROMATOSIS TYPE I WITH ASTROCYTOMA OF THE BRAIN IN THE PRACTICE OF PEDIATRICIAN

Journal of Volgograd State Medical University ◽

10.19163/1994-9480-2020-3(75)-138-144 ◽

2020 ◽

Vol 75 (3) ◽

pp. 138-144

Author(s):

T.N. Buchkova ◽

◽

N.I. Zriachkin ◽

G.I. Chebotareva ◽

O.V. Tihnenko ◽

...

Keyword(s):

Diagnostic Criteria ◽

Clinical Case ◽

Clinical Manifestations ◽

Neurofibromatosis Type ◽

Speech Disorders ◽

Endocrine Disorders ◽

Type I ◽

Neurofibromatosis Type I ◽

Cutaneous Manifestations ◽

The Brain

The relevance of the topic is due to insufficient awareness of doctors about neurofibromatosis, which leads to a delay in diagnosis and the development of complications. The diagnostic criteria characteristic of this disease, features of the clinical course, possible complications, methods of treatment, features of dispensary observation are described. A clinical case of neurofibromatosis type I with astrocytoma of the brain is described. The diagnosis of neurofibromatosis type I (NFI) was established in a patient aged 4 years 3 months. The peculiarity of the manifestations of this clinical case is the absence of family history; the combination of cutaneous manifestations, multiple lesions of the nervous system, complicated by chronic subdural hematoma, endocrine disorders and extra-cutaneous manifestations (eye symptoms, hearing and speech disorders); the absence of significant positive dynamics despite repeated surgical treatment and long-term polyochemotherapy. Despite the stabilization of clinical manifestations of the disease, this patient has an unfavorable prognosis with possible progression of the pathological process. For early clinical detection of patients with NFI, using for this purpose diagnostic criteria recommended by the International Committee of experts on neurofibromatosis, continuity of management and adequate measures of primary and secondary prevention of complications of NFI is important knowledge of this pathology by primary health care physicians, including pediatricians, district and family doctors, neurologists, dermatologists, ophthalmologists and surgeons.

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