No abstract available.
Neurilemmoma* ; Neurofibromatoses* ; Neurofibromatosis 2*

Humans ; Neurofibromatosis 2

Adolescent ; Humans ; Male ; Neurofibromatosis 1 ; Neurofibromatosis 2

Meningioma has been considered to be rare as multiple growths. More often than not, they are associated with neurofibromatosis, bilateral acoustic tumors and multiple angiomata. Less frequently multiple meningiomas may be present without these associated problems. Cushing and Eisenhardt called the former "meningiomatosis" and the latter multiple meningiomas. The incidence of multiple meningiomas has been reported 1-8.9% of all intracranial meningiomas. The availability of CT has increased the incidence of the diagnosis of multiple meningiomas by visualizing smaller meningiomas which would have remained undetected and it seems to be reasonable that some elderly patients with multiple lesions diagnosed by CT should be followed and not operated on. We report a patient with multiple meningiomas without evidence of von Recklinghausen's disease and explore its various theories of the etiology.
Aged ; Diagnosis ; Humans ; Incidence ; Meningioma* ; Neurofibromatosis 1 ; Neurofibromatosis 2

Cochlear Implantation ; Genes, Neurofibromatosis 2 ; Humans ; Neurofibromatosis 2/surgery* ; Neuroma, Acoustic/surgery* ; Sequence Deletion

OBJECTIVE: To report on a rare case of Neurofibromatosis type 2 (NF2) manifesting as oculomotor nerve palsy and explore its genetic basis. METHODS: A patient with NF2 who had presented at Beijing Ditan Hospital Affiliated to Capital Medical University on July 10, 2021 was selected as the study subject. Cranial and spinal cord magnetic resonance imaging (MRI) was carried out on the patient and his parents. Peripheral blood samples were collected and subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing. RESULTS: MRI revealed bilateral vestibular Schwannomas, bilateral cavernous sinus meningiomas, popliteal neurogenic tumors, and multiple subcutaneous nodules in the patient. DNA sequencing revealed that he has harbored a de novo nonsense variant of the NF2 gene, namely c.757A>T, which has replaced a codon (AAG) encoding lysine (K) at position 253 with a stop codon (TAG). This has resulted in removal of the Merlin protein encoded by the NF2 gene from position 253 onwards. The variant was not found in public databases. Bioinformatic analysis suggested that the corresponding amino acid is highly conserved. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated as pathogenic (PVS1+PS2+PM2_Supporting+PP3+PP4). CONCLUSION The heterozygous nonsense variant c.757A>T (p.K253*) of the NF2 gene probably underlay the disease in this patient with an early onset, atypical but severe phenotype.
Male ; Humans ; Neurofibromatosis 2/genetics* ; Genes, Neurofibromatosis 2 ; Oculomotor Nerve Diseases/genetics* ; Computational Biology ; Genomics ; Mutation

Neurilemoma is a pure proliferation of Schwann cell and its ocular symptoms depend on the location of the tumor and its size. Neurofibromatosis is a multisystemic disease and has two distinct form : Neurofibromatosis type 1 described as peripheral neurofibromatosis and type 2 as central or bilateral acoustic neurofibromatosis. We experienced a case of orbital neurilemoma associated with neurofibromatosis in a 12-year-old male patient who presented with left orbital mass. We report this case with literature review.
Child ; Humans ; Male ; Neurilemmoma* ; Neurofibroma* ; Neurofibromatoses ; Neurofibromatosis 1 ; Neurofibromatosis 2 ; Orbit*

The authors have experienced 4 cases of neurofibromatosis with C-P angle tumors in 1979. In 3 cases of them, C-P angle tumors were confirmed surgically, and in one another case, bilateral C-P angle tumors with multiple intracranial and extracranial tumors were found in C-T scan. Where suspicion of a bilateral tumor of the 8th nerve arises, it is reasonable always to seek evidence of neurofibromatosis, otherwise described as von Recklinghausen's disease. It is recommended that intracranial tumors of the patient with central neurofibromatosis should be removed for prolongation of life, though the another tumors will grow after that.
Humans ; Life Support Care ; Neurofibromatoses* ; Neurofibromatosis 1 ; Neurofibromatosis 2 ; Neuroma, Acoustic*

Plexiform schwannoma is a rare benign tumor arising from the peripheral nerve sheath and characterized by a multinodular and plexiform growth pattern. This tumor usually arises sporadically. In rare cases, plexiform schwannomas have been associated with neurofibromatosis type 2. Plexiform schwannoma should be differentiated from plexiform neurofibroma, because the latter is pathognomonic tumor of neurofibromatosis type 1 and has a potential of malignant transformation. We report a case of multiple plexiform schwannomas associated with bilateral acoustic neuromas and meningioma.
Meningioma ; Neurilemmoma* ; Neurofibroma, Plexiform ; Neurofibromatoses* ; Neurofibromatosis 1 ; Neurofibromatosis 2* ; Neuroma, Acoustic ; Peripheral Nerves

We report a rare case of meningioma associated with meningioangiomatosis in a 9-year-old male patient who showed none of the stigmata of neurofibromatosis 2. Brain magnetic resonance images showed marked cortical calcification with slight contrast-enhancement in the parieto-occipital lobe. The resected mass showed that the lesion was mainly composed of meningioangiomatosis and a small focus was transformed into meningioma. To date, only 17 cases of such combined lesions have been reported in English medical literature. We report a rare case of meningioma that arose from meningioangiomatosis.
Brain ; Child ; Christianity ; Humans ; Male ; Meningioma* ; Neurofibromatoses* ; Neurofibromatosis 2