Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030552 (paresis)
 5,831 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A sporadic case of neurofibromatosis type 2 in a 23-year old woman is described with clinical and neuroimaging (CT or MRI) 4 years follow-up. Together with bilateral acoustic tumours multiple intracranial tumours and solitary orbital meningioma were present, the latter being confirmed surgically and histopathologically. Ocular findings of congenital cataract but lack of other external stigmata of neurofibromatosis completed the clinical picture of the disease. Diagnostic criteria of NF2, difficulties in establishing the optimal management options are described and the importance of evaluating of family members is underlined. Neuroimaging pictures showed tumour expansion over 4 years leading to severe disability with total blindness, deafness, paresis and cerebellar syndrome.
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PMID:[Evolution of the growth of multiple intracranial tumors in a case of type 2 neurofibromatosis]. 799 Oct 61

Neurofibromatosis 2 is an autosomal-dominant disease, which is characterized by vestibular schwannomas, cataract, retinal hamartomas as well as tumors of the peripheral and central nerve system, demonstrating a variety of expression. The ophthalmologist plays an important role in making the diagnosis, as several ocular manifestations may be shown during childhood, before tumors of the central nerve system become symptomatic. An early diagnosis of NF 2 may prevent deafness by early surgical intervention. Due to primary and secondary reasons such as age-related processes, different sensations like hearing or vision may be compromised. Neuropathy may lead to vestibular disturbances and loss of muscle control. Therapeutic options include cataract surgery, implantation of cochlear or brainstem implants as well as conservative therapy of the ocular surface in paresis of the VIIth cranial nerve or learning to read from the lips. The human NF2 gene was cloned from chromosome 22 in 1993. The major part of the genetic alterations described so far are point mutations as well as deletions or insertions in or around the exons. Geno-phenotype correlations allow some predictions of the course of the disease to be made.
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PMID:[NF2: ocular, neural and genetic manifestations]. 1584 40