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 collection of symptoms and signs indistinguishable from ocular myasthenia can be caused by an intracranial mass. We illustrate this condition with the case of an adolescent girl with neurofibromatosis type 1 and a dorsal midbrain astrocytoma. At presentation, she had fatigable ptosis, upgaze paresis, and a positive "lid twitch" sign. Radiation therapy resulted in marked reduction of her signs, confirming that the muscle fatigue was central in origin. We discuss the possible mechanisms of this central fatigability.
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PMID:Midbrain myasthenia: fatigable ptosis, 'lid twitch' sign, and ophthalmoparesis from a dorsal midbrain glioma. 156 51

We analyzed two unrelated male patients in whom neurofibromatosis type 1 (NF1) was not suspected until they presented with malignant peripheral nerve sheath tumours (MPNSTs) in their thirties and forties, respectively. Patient A presented with progressive peroneus paresis due to a rapidly growing MPNST in the thigh. MRI examination revealed multiple symmetrical spinal neurofibromas in this patient as well as in patient B who presented at the age of 42 with paraparesis and an MPNST at spinal level L4. Dermal features in both patients were strikingly mild, therefore both patients were considered belonging to the NF1-subform of spinal neurofibromatosis (SNF). The novel NF1 mutations identified, i.e. splice mutation, c.7675+1G > A, in patient A and two alterations, p.Cys1016Arg and p.2711delVal, located in trans in patient B support the notion that the phenotype of SNF may be related to mutations with possible residual functionality. The MPNSTs of both patients showed LOH affecting chromosome 17 including the NF1 locus. Furthermore, a truncating TP53 mutation was identified in the tumour of patient A. Both alterations are frequent findings in NF1-associated MPNSTs. To our knowledge these are the first MPNST patients with the clinical phenotype of SNF. The clinical course observed in these two patients suggests that nodular plexiform neurofibromas and spinal-nerve-root neurofibromas which may be asymptomatic for a long time and, hence, unrecognized in SNF patients bear the risk for malignant transformation.
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PMID:Two sporadic spinal neurofibromatosis patients with malignant peripheral nerve sheath tumour. 1966 63