Neurofibromatosis and Hydrocephalus

Tanrıkulu, Bahattin; Özek, Ömer

doi:10.1007/978-3-319-27250-4_65

Cited by 3 publications

(4 citation statements)

References 54 publications

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“…A possible explanation is that the tumors may obstruct cerebrospinal fluid flow, resulting in enlarged intraventricular space that can be detected in the intact animal. This is consistent with observations of hydrocephalus resulting from cerebrospinal fluid blockage in some NF-2 patients (Tanrıkulu and Özek, 2019).…”

Section: Resultssupporting

confidence: 93%

Generation of a zebrafish neurofibromatosis model via inducible knockout ofnf2

Desingu Rajan,

Huang,

Stundl

et al. 2024

Preprint

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Neurofibromatosis Type 2 (NF-2) is a dominantly inherited genetic disorder that results from mutations in the tumor suppressor gene, neurofibromin 2 (NF2) gene. Here, we report the generation of a conditional zebrafish model of neurofibromatosis established by an inducible genetic knockout of nf2a/b, the zebrafish homolog of human NF2. Analysis of nf2a and nf2b expression reveals ubiquitous expression of nf2b in the early embryo, with overlapping expression in the neural crest and its derivatives and in the cranial mesenchyme. In contrast, nf2a displays lower expression levels. Induction of nf2a/b knockout at early stages increases the proliferation of larval Schwann cells and meningeal fibroblasts. Subsequently, in adult zebrafish, nf2a/b knockout triggers the development of a spectrum of tumors, including vestibular schwannomas, spinal schwannomas, meningiomas, and retinal hamartomas, mirroring the tumor manifestations observed in patients with NF-2. Collectively, these findings highlight the generation of a novel zebrafish model that mimics the complexities of the human NF-2 disorder. Consequently, this model holds significant potential for facilitating therapeutic screening and elucidating key driver genes implicated in NF-2 onset.

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Section: Resultssupporting

confidence: 93%

Generation of a zebrafish neurofibromatosis model via inducible knockout ofnf2

Desingu Rajan,

Huang,

Stundl

et al. 2024

Preprint

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“…Hydrocephalus in NF1 can be caused by tumors, hamartomas, and other developmental diseases that disrupt the circulation or absorption of cerebrospinal fluid (CSF). 36 Large bilateral vestibular schwannomas and other brain tumors associated with NF2 can cause hydrocephalus by constricting or blocking the passageways through which CSF flows. 36 As that this study encountered the death of one patient due to this fatal complication, it is encouraged to do further research about its association with NF-1.…”

Section: Discussionmentioning

confidence: 99%

“… 36 Large bilateral vestibular schwannomas and other brain tumors associated with NF2 can cause hydrocephalus by constricting or blocking the passageways through which CSF flows. 36 As that this study encountered the death of one patient due to this fatal complication, it is encouraged to do further research about its association with NF-1. Hence, attracting attention of physicians for immediate recognition and improved management.…”

Section: Discussionmentioning

confidence: 99%

Epidemiology and Outcomes of Neurofibromatosis Type 1 (NF-1): Multicenter Tertiary Experience

Almuqbil,

Alshaikh,

Altwaijri

et al. 2024

JMDH

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Purpose The aim of this manuscript was to assess the epidemiology and clinical features of Neurofibromatosis type 1 (NF-1) based on the newly published revised NF-1 diagnostic criteria and to evaluate complications of NF-1 including neurodevelopmental disorders. Patients and methods A retrospective cross-sectional observational study was conducted in the Ministry of National Guard Health Affairs (MNGHA) healthcare organization branches including four tertiary hospitals and 51 primary health care centers in different regions in Saudi Arabia. This study included all patients diagnosed with NF1 using the revised NIH diagnostic criteria published in 2021 that were registered at the electronic medical records (EMR) from 2015 to 2021. Results A total of 184 patients fulfilled the diagnostic criteria and were included in this study. The median age at diagnosis was 11 years (IQR: 4.00–20.25). The most encountered diagnostic criteria in this study were Café-au-lait macules (85.3%), and (42.9%) were found to have two or more neurofibromas with plexiform neurofibroma being the most common subtype (23.36%), approximately (36.4%) of the patient with optic pathway glioma. Nearby (26.6%) of the patients displayed different type of tumors. Iris Lisch nodules were presented in 36.4% of patients at a median age of 12 years (IQR: 9.0–21.8). Cardiovascular abnormality was encountered in 9.8% of the patients. Around 27.7% of the patients reported headache and 11.4% of the patient suffered from different type of epilepsy. Besides, 10.5% of the patients had intellectual disability, 33.8% suffered from communication disorders, and 4.9% patients had ADHD. Conclusion The results of this study will enable practitioners to adopt a more holistic approach and prioritize numerous attributes, which they can subsequently incorporate into their therapeutic methodologies. Furthermore, the identification of these attributes will facilitate an expeditious and accurate diagnosis. Hence, the implementation of intervention during its nascent phase may result in a more advantageous consequence.

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“…Although frequently related to midbrain, diencephalon or basal ganglia masses, non-communicating hydrocephalus can be also due to non-neoplastic lesions. Among these causes of CSF flow alteration, aqueductal stenosis, aqueductal web and superior medullary velum synechiae, whose etiology still remains uncertain, have an increased incidence rate in patients with NF1 compared to the general population [ 67 , 68 , 69 ]. Symptoms vary depending on pathogenic cause and hydrocephalus entity, despite the fact that asymptomatic incidental dilatation of the ventricles can also be observed [ 66 ].…”

Section: Brainmentioning

confidence: 99%

Non-Oncological Neuroradiological Manifestations in NF1 and Their Clinical Implications

Russo

Cascone

et al. 2021

Cancers

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Neurofibromatosis type 1 (NF1), the most frequent phakomatosis and one of the most common inherited tumor predisposition syndromes, is characterized by several manifestations that pervasively involve central and peripheral nervous system structures. The disorder is due to mutations in the NF1 gene, which encodes for the ubiquitous tumor suppressor protein neurofibromin; neurofibromin is highly expressed in neural crest derived tissues, where it plays a crucial role in regulating cell proliferation, differentiation, and structural organization. This review article aims to provide an overview on NF1 non-neoplastic manifestations of neuroradiological interest, involving both the central nervous system and spine. We also briefly review the most recent MRI functional findings in NF1.

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Neurofibromatosis and Hydrocephalus

Cited by 3 publications

References 54 publications

Generation of a zebrafish neurofibromatosis model via inducible knockout ofnf2

Generation of a zebrafish neurofibromatosis model via inducible knockout ofnf2

Epidemiology and Outcomes of Neurofibromatosis Type 1 (NF-1): Multicenter Tertiary Experience

Non-Oncological Neuroradiological Manifestations in NF1 and Their Clinical Implications

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