Diagnosis, Management, and New Therapeutic Options in Childhood Neurofibromatosis Type 2 and Related Forms

Neurofibromatosis type 2 (NF2; MIM # 101000) is an autosomal dominant disorder characterized by the development of vestibular schwannomas (VSs); schwannomas of other cranial, spinal, and cutaneous nerves; cranial and spinal meningiomas or other central nervous system tumors (eg, ependymomas and astrocytomas) or both. Additional features include eye (eg, early onset cataracts, optic nerve sheath meningiomas, retinal or pigment epithelial hamartomas or both, and epithelial retinal membranes) and skin abnormalities (eg, flat dermal [NF2 plaques] or spherical subcutaneous nodular schwannomas or both, and few, atypical café-au-lait spots).
Source: Seminars in Pediatric Neurology - Category: Neurology Authors: Source Type: research

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Publication date: Available online 17 February 2020Source: Inorganica Chimica ActaAuthor(s): Hassan H. Hammud, Ulrich Kortz, Saurav Bhattacharya, Sally Demirdjian, Essa Hariri, Samih Isber, Eun Sang Choi, Babak Mirtamizdoust, Mohamad Mroueh, Costantine F. DaherAbstractThe dinuclear complex Bis[(µ2-azido)-chloro-(1,10-phenanthroline)-copper(II)] (1) was synthesized, and characterized by X-ray. Complex (1) crystallizes in the monoclinic system, it consists of centrosymmetric [CuCl(phen)N3]2 dimers bridged by azide groups. The phenanthroline ligand, chloride ion, and ƞ-N of equatorial bridging azide ligand are coplanar...
Source: Inorganica Chimica Acta - Category: Chemistry Source Type: research
Conditions:   Marfan's Syndrome With Ocular Manifestations;   Pseudoexfoliation Syndrome;   Cataract;   Phakodonesis;   Ectopia Lentis Intervention:   Sponsors:   Anglia Ruskin University;   Southend University Hospital Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Condition:   Cataract Intervention:   Drug: Dexycu intracameral dexamethasone Sponsor:   MDbackline, LLC Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Conditions:   Marfan's Syndrome With Ocular Manifestations;   Pseudoexfoliation Syndrome;   Cataract;   Phakodonesis;   Ectopia Lentis Intervention:   Sponsors:   Anglia Ruskin University;   Southend University Hospital Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
AbstractPurposeTo evaluate the long-term refractive outcomes and complications of posterior chamber intraocular lens placement by scleral fixation surgery (SF-IOL) with the knotless Z-suture method.MethodsThe authors retrospectively reviewed the medical records of patients who underwent SF-IOL placement with the Z-suture method between January 2010 and December 2018 and who attended a follow-up after at least 1  year. Preoperative and postoperative best-corrected visual acuity (BCVA), anterior segment biomicroscopy, fundus examinations, and postoperative complications were evaluated. Lenticular astigmatism was calcula...
Source: International Ophthalmology - Category: Opthalmology Source Type: research
ConclusionExtent of re-excision, sequence/timing of re-RT, and DFI impact upon outcomes in curative-intent, multi-modality salvage therapy for recurrent ependymoma.
Source: Journal of Neuro-Oncology - Category: Cancer & Oncology Source Type: research
Conditions:   Glaucoma;   Vision Impairment and Blindness;   Cataract;   Diabetic Retinopathy;   Eye Diseases Interventions:   Behavioral: Enhanced Intervention Using Patient Navigators;   Other: Usual Care Sponsors:   Columbia University;   Centers for Disease Control and Prevention Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
CONCLUSION: There is a large spectrum of ocular-specific findings in NF2. These are seminal, especially at an early age, enabling an early diagnosis and timely therapy of further tumor manifestations. Retinal astrocytic hamartomas may be very discreet and easily missed on routine examination. Fundus infrared imaging is a useful tool allowing to detect even discreet changes rarely seen by ophthalmoscopy in young children. This allows for a more extensive evaluation by SD-OCT. PMID: 29534265 [PubMed - in process]
Source: Klinische Monatsblatter fur Augenheilkunde - Category: Opthalmology Tags: Klin Monbl Augenheilkd Source Type: research
Authors: Ruggieri M, Praticò AD, Serra A, Maiolino L, Cocuzza S, Di Mauro P, Licciardello L, Milone P, Privitera G, Belfiore G, Di Pietro M, Di Raimondo F, Romano A, Chiarenza A, Muglia M, Polizzi A, Evans DG Abstract Neurofibromatosis type 2 [NF2; MIM # 101000] is an autosomal dominant disorder characterised by the occurrence of vestibular schwannomas (VSs), schwannomas of other cranial, spinal and cutaneous nerves, cranial and spinal meningiomas and/or other central nervous system (CNS) tumours (e.g., ependymomas, astrocytomas). Additional features include early onset cataracts, optic nerve sheath meningio...
Source: Acta Otorhinolaryngologica Italica - Category: ENT & OMF Tags: Acta Otorhinolaryngol Ital Source Type: research
Neurofibromatosis type 2 (NF2; MIM # 101000) is an autosomal dominant disorder characterized by the development of vestibular schwannomas (VSs), schwannomas of other cranial, spinal and cutaneous nerves, cranial and spinal meningiomas and/or other central nervous system (CNS) tumors (e.g., ependymomas, astrocytomas). Additional clinical features involve eye (e.g., early onset cataracts, optic nerve sheath meningiomas, retinal and/or pigment epithelial hamartomas and epithelial retinal membranes) and skin (e.g., flat dermal NF2-plaques, and/or spherical subcutaneous nodular schwannomas and few, atypical café-au-lait spots).
Source: Seminars in Pediatric Neurology - Category: Neurology Authors: Source Type: research
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