Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Three cases of histologically verified neurinomas of the oculomotor nerve are reported. The preoperative diagnosis in all three cases was not made; on the contrary all cases were diagnosed as sphenoid ridge meningiomas. The oculomotor neurinoma manifests itself in the beginning with a discrete progressive palsy of the oculomotor nerve leading in later stages to complete ophthalmoplegia. Proceeding the oculomotor nerve paresis or going parallel to it is a functional loss of the homolateral optic nerve sometimes progressing to amaurosis. Unilateral exophthalmos as well as frontal or orbital neuralgic pain with or without sensory disorders in the area of trigeminus-I are characteristic for the clinical picture in later stages, all symptoms characteristic for the syndrome of the apex orbitae, resp. the superior orbital fissure, resp. the anterior cavernous sinus. The differential diagnosis has to consider above all the sphenoid ridge meningioma, the trigeminal neurinoma and the numerous tumors within the cavernous sinus (aneurysmas, meningiomas, chondromas, metastases of carcinomas, pituitary adenomas etc.) or the middle cranial fossa. Plain X-ray, carotid angiogram and computer tomogram are essential diagnostic means for localization and extension of the tumor but not for histological diagnosis. Oculomotor neurinomas are very seldom. The three observed cases did not have any relation to a possible generalized neurofibromatosis.
 ...
PMID:[Neurinoma of the oculomotor nerve (author's transl)]. 65 Dec 44

Neurofibromatosis (NF) type I is a common autosomal dominant disease that principally affects the skin and peripheral nervous system. Neurofibromatosis type I associated multiple sclerosis is a very rare condition. A 28-year old NF1 man developed progressive spastic-ataxic gait, left side dysmetria, right internuclear ophthalmoplegia, spastic dysarthria. MRI of the brain depicted Dawson finger appearance demyelination of the corpus callosum and other multifoci demyelinating lesions typical for MS. CSF revealed high CSF protein with negative oligoclonal band. Visual evoked potential showed prolonged P100 latency, abnormal waveform and temporal dispersion bilaterally. The syndrome partially responded and stabilized with corticosteroid. Six months later progression of the syndrome characterized by paraparesis, bilateral cerebellar hemispheric syndrome and bilateral internuclear ophthalmoplegia occurred. Repeated MRI revealed more extensive white matter lesions extended into centrum semiovale. The progressive syndrome did not respond to corticosteroid. Primary progressive multiple sclerosis was diagnosed. Only thirteen cases with NF1 and multiple sclerosis have been described in the literature. The association has been hypothesized to be related to mutations in the neurofibromin protein or oligodendrocyte-myelin glycoprotein (OMgp) gene.
 ...
PMID:Neurofibromatosis type I associated multiple sclerosis. 2159 39

An isolated schwannoma of the oculomotor nerve is rare in children without an associated neurofibromatosis. A 13-year-old girl, with a previous medical history of migraine, was admitted for disabling ophthalmic migraine with oblique diplopia. The clinical examination showed a right incomplete ophthalmoplegia with reduced ipsilateral visual acuity (8/10). There was no particular skin reaction. The MRI revealed a right (isosignal-T1 and isosignal-T2) nodular schwannoma located within the cisternal segment of the oculomotor nerve. The angio-CT performed later confirmed the absence of any vascular malformation. The treatment consisted of analgesics and corticotherapy, with complete regression of symptoms three weeks later and a normal MRI follow-up. Therefore, radiosurgery was not performed.
...
PMID:[Oculomotor nerve schwannoma in a child: Case report and literature review]. 2607 Nov 77

Neurofibromatosis type 2 usually presents with bilateral acoustic schwannomas. We highlight the rare presentation of neurofibromatosis initially involving third nerve. A 23-year-old Malay female presented with left eye drooping of the upper lid and limitation of upward movement for 8 years. It was associated with right-sided body weakness, change in voice, and hearing disturbance in the right ear for the past 2 years. On examination, there was mild ptosis and limitation of movement superiorly in the left eye. Both eyes had posterior subcapsular cataract. Fundoscopy showed generalised optic disc swelling in both eyes. She also had palsy of the right vocal cord, as well as the third and eighth nerve. There was wasting of the distal muscles of her right hand, with right-sided decreased muscle power. Pedunculated cutaneous lesions were noted over her body and scalp. MRI revealed bilateral acoustic and trigeminal schwannomas with multiple extra-axial lesions and intradural extramedullary nodules. Patient was diagnosed with neurofibromatosis type 2 and planned for craniotomy and tumour debulking, but she declined treatment. Neurofibromatosis type 2 may uncommonly present with isolated ophthalmoplegia, so a thorough physical examination and a high index of suspicion are required to avoid missing this condition.
 ...
PMID:Neurofibromatosis Type 2 Presenting with Oculomotor Ophthalmoplegia and Distal Myopathy. 2773 38