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 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).
ConclusionPanel ‐based targeted exome sequencing revealed 23 novel mutations, recognized different combinations forms of variants, and extended the mutational spectrum of retinitis pigmentosa and depicted common variants in northeast China.
ABSTRACT Purpose: To evaluate the rate of cystoid macular edema development among cataract surgery patients on four different therapeutic regimens. Methods: The present study is a retrospective analysis of 5,380 eyes following uncomplicated phacoemulsification at Wake Forest University. The study period went from July 2007 to December 2012. Patients received one of four regimens, as follows: postoperative generic ketorolac 0.4% and prednisolone 1%, postoperative name-brand ketorolac 0.45% and prednisolone 1%, postoperative bromfenac 0.09% and prednisolone 1%, preoperative and postoperative bromfenac 0.09% alone. A statisti...
Abstract: Lisch nodules are melanocytic hamartomas that have been hypothesized to grow larger in the presence of sunlight. A 17-year-old boy with neurofibromatosis Type 1 and congenital ptosis in one eye presented and was found to have a distinct asymmetry of Lisch nodules between eyes with less under the ptotic lid. This case supports the theory that Lisch nodules form at least partially due to a direct trophic effect of sunlight.
Conclusion: Delayed spontaneous suprachoroidal hemorrhage can present as a choroidal mass. Multimodal imaging helps to differentiate it from other sight-threatening and life-threatening ocular diseases. PMID: 32095214 [PubMed]
Conclusion: Duane retraction syndrome can be associated with congenital cataract due to the matching time of gestational development of the lens to that of ocular and non-ocular anomalies associated with Duane syndrome. As both of these disorders are rare, coincidence of both in the same person and the same eye by chance is a very remote possibility. PMID: 32095213 [PubMed]
ConclusionsIn the first observational study of selumetinib for NF-1 associated PN we showed that the drug was associated with clinical and radiological improvement. Our study also confirms the safety described in the clinical trials.
Publication date: Available online 25 February 2020Source: Journal of Ayurveda and Integrative MedicineAuthor(s): A.M. Hajarnavis, P.M. Bulakh
Conditions: Ectomesenchymoma; Recurrent Adrenal Gland Pheochromocytoma; Recurrent Ependymoma; Recurrent Ewing Sarcoma; Recurrent Hepatoblastoma; Recurrent Langerhans Cell Histiocytosis; Recurrent Malignant Germ Cell Tumor; Recurrent Malignant Glioma; Recurrent Medull oblastoma; Recurrent Melanoma; Recurrent Neuroblastoma; Recurrent Non-Hodgkin Lymphoma; Recurrent Osteosarcoma; Recurrent Peripheral Primitive Neuroectode...
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]
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...