Cases reported "Cranial Nerve Diseases"

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1/116. Chronic steadily progressive central and peripheral predominantly motor demyelination, involving the cranial nerves, responsive to immunoglobulins.

    The association of central and peripheral demyelination was reported previously. Most of the cases refer to central chronic relapsing demyelination with clinical criteria for multiple sclerosis associated with later signs of peripheral nerve involvement. Other authors, described central lesions in patients with chronic inflammatory demyelinating polyneuropathy and in guillain-barre syndrome, as a seldom occurrence. We report a patient in which a chronic steadily progressive central and peripheral predominantly motor nervous system demyelination, involving the cranial nerves, was identified. The patient improved after intravenous immunoglobulin suggesting an immune-mediated mechanism. To our knowledge this presentation was not described before.
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ranking = 1
keywords = neuropathy
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2/116. Surgical findings in idiopathic trigeminal neuropathy mimicking a trigeminal neurinoma.

    Idiopathic trigeminal neuropathy is a benign disorder where the main clinical feature is facial numbness limited to the territory of one or more divisions of the trigeminal nerve, persisting for a few weeks to several years and in which no underlying disease can be identified. The case of a 37-year-old man with a brief history of sensory and motor trigeminal symptoms who showed magnetic resonance imaging (MRI) findings consistent with a small trigeminal neurinoma is reported. The patient was operated on but no tumour could be found during surgery and a biopsy was taken from the portio major. Pathological diagnosis was chronic non granulomatous inflammatory reaction with areas of coagulation necrosis. Control MRI showed complete resolution of the trigeminal abnormalities. It is concluded that in patients with MRI findings suggestive of a small trigeminal schwannoma, benign idiopathic trigeminal neuropathy should also be considered in the differential diagnosis. A conservative approach with sequential MRI studies may avoid an unnecessary surgical exploration.
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ranking = 6
keywords = neuropathy
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3/116. Ocular amyloidosis and secondary glaucoma.

    OBJECTIVE: To report the clinical and histopathologic findings in two cases of secondary glaucoma associated with amyloidosis. DESIGN: Two case reports. methods: Retrospective review of clinical findings, course, and treatment of the two patients. The histopathologic findings from available biopsy material were also reviewed. MAIN OUTCOME MEASURES: intraocular pressure (IOP), visual field changes, and surgical outcome. RESULTS: The first case describes a 76-year-old woman with orbital amyloidosis who developed gradual unilateral elevation of IOP that was poorly responsive to medical therapy and underwent filtration surgery. Episcleral venous pressure was elevated on the affected side, and histopathologic analysis of the conjunctival tissue confirmed perivascular amyloid deposits, further suggesting raised episcleral venous pressure to be a possible mechanism of glaucoma. The second case describes a 47-year-old white woman with familial amyloid neuropathy with a transthyretin cys-114 mutation. The association of glaucoma with this mutation has not been described previously. Persisting elevation of IOP in one eye was initially responsive to topical antiglaucoma medications but eventually required filtration surgery. Amyloid particles were found in the aqueous and on the lens surface. Histopathologic analysis of the aqueous and sclerectomy specimens demonstrated amyloid, suggesting outflow obstruction as a possible mechanism of glaucoma. Conjunctival buttonholing complicated filtration surgery in both cases, and the leaks eventually resolved with good control of IOP. CONCLUSIONS: Amyloid associated with glaucoma may involve different pathophysiologic mechanisms. The elevated IOP may not respond well to medical therapy. Cautious surgical manipulation of the conjunctiva is warranted in these cases.
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ranking = 1
keywords = neuropathy
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4/116. Isolated trigeminal neuropathy due to trigeminal nerve root hemorrhage.

    BACKGROUND: Isolated trigeminal neuropathy is uncommon; causes include trauma, inflammation, or neoplasm. methods: We report a patient who fell and struck his head during a myocardial infarction, was treated with streptokinase, and developed symptoms and signs of an isolated trigeminal sensory neuropathy. RESULTS: Imaging showed hemorrhage in the trigeminal nerve root; follow-up imaging showed resolution of the hemorrhage, but no underlying structural lesion. CONCLUSION: A combination of head trauma plus thrombolysis resulted in an isolated trigeminal neuropathy.
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ranking = 7
keywords = neuropathy
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5/116. Auditory neuropathy and a mitochondrial disorder in a child: case study.

    A child was referred for an audiologic evaluation, to include auditory brainstem evoked response testing, due to inconsistent responses to sound and delayed speech and language development. Results were characteristic of auditory neuropathy. In view of subsequent decline in motor function, a genetics evaluation was conducted, revealing a mitochondrial disorder. A brief overview of mitochondrial genetics in association with hearing loss is presented. The patient's audiologic profile is described and the implications for management are discussed.
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ranking = 5
keywords = neuropathy
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6/116. Hereditary motor and sensory neuropathy associated with auditory neuropathy in a Gypsy family.

    In a Slovene Gypsy family of 19 subjects from four generations three patients with clinical characteristics compatible with hereditary motor and sensory neuropathy - Lom (HMSNL). were found They had severe distal and milder proximal muscle atrophy and weakness with areflexia of myotatic jerks. Two had facial weakness at the time when already wheelchair bound. All sensory modalities were affected distally in the limbs. Sluggish pupillary responses to light and convergence were found. They had skeletal abnormalities. One patient had polydactily on the hand. Nerve conduction studies were compatible with demyelinative polyneuropathy. Nerve biopsy showed mainly axonal loss without hypertrophic changes. Auditory neuropathy was diagnosed in all of them. None of the patients had duplication of 17p1.2-12 or point mutations in the Protein zero. Peripheral myelin protein and Connexin32 genes. Similar disorder that mapped to 8q24 was previously described in some Bulgarian and Italian Gypsy families. Members of our family may suffer from the same hereditary disease and may carry the same ancestor mutation, which was in the past spread in European Gypsy populations.
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ranking = 11
keywords = neuropathy
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7/116. Multiple cranial neuropathy in Cogan's syndrome.

    A 20 year old woman presented with recurrent alternative keratitis for four months. One month before admission, she developed progressive hearing loss, visual impairment, facial diparesis and bilateral trigeminal neuropathy. Cogan's syndrome was diagnosed. Prompt treatment with corticosteroid resulted in dramatic improvement of the ocular, otological and neurological dysfunctions.
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ranking = 5
keywords = neuropathy
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8/116. Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation.

    Mutations in the gene coding for the Schwann cell transcription factor early growth response 2 (EGR2), which seems to regulate myelinogenesis and hindbrain development, have been observed in few cases of inherited neuropathy. The authors describe a unique combination of cranial nerve deficits in one member of a Charcot-Marie-tooth 1 family carrying an EGR2 mutation (Arg381His). This finding further supports the role of EGR2 in cranial nerve development.
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ranking = 1
keywords = neuropathy
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9/116. Auditory neuropathy: case study with hyperbilirubinemia.

    Auditory neuropathy (AN) has been described in the literature as presenting with a combination of audiometric findings that include elevated behavioral audiometric thresholds, auditory brainstem response findings that are not consistent with audiometric findings, poor speech recognition, and present otoacoustic emissions (OAEs) and/or cochlear microphonics. Since the availability of clinical OAE testing, AN has come to be identified with increasing frequency; however, incidence and prevalence figures are unavailable. There is a great deal of discussion about the accurate diagnosis of AN, its characteristics, and its treatment. Some of this discussion is occurring on the internet and over the telephones. The need to continue to provide information in accessible peer-reviewed journals is paramount. Following a review of the literature, a case study is presented of a boy who was diagnosed with AN as a newborn. He experienced hyperbilirubinemia and other neonatal health complications. His educational intervention was managed elsewhere until recently. Information is presented about the progression of the case over a 5-year period that includes audiologic data and communication development results.
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ranking = 5
keywords = neuropathy
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10/116. Mental nerve neuropathy as a result of primary herpes simplex virus infection in the oral cavity. A case report.

    We describe a 25-year-old woman who had mental nerve neuropathy. The symptom was attributed to herpes simplex virus infection, which appeared as herpetic gingivostomatitis 4 days after the extraction of the lower third molar. This case suggests that herpes simplex virus can infect the inferior alveolar nerve through an extraction wound and can induce mental nerve neuropathy.
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ranking = 6
keywords = neuropathy
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