Linked Life Data

19715170

Source:http://linkedlifedata.com/resource/pubmed/id/19715170

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
7
pubmed:dateCreated
2009-8-31
pubmed:abstractText
The patient was a 69-year-old man who had a two-year history of slowly-progressive gait disturbance, paresthesia of the distal legs and bilateral hearing impairment. Nerve conduction study showed symmetric motor-dominant axonal polyneuropathy of the legs. Gadolinium-enhanced brain and spinal cord MRI revealed bilateral vestibular schwannomas, and multiple small schwannomas in the cauda equina, the surface of spinal cord and lumbar muscles. Genetic examination disclosed a point mutation in the exon 2 (T161C: L54P) of the neurofibromatosis 2 (NF2) gene, and the diagnosis of NF2 was made. It has been reported that axonal polyneuropathy is frequently observed in patients with NF2. Therefore, it is possible that axonal polyneuropathy of the present patient may be due to the abnormality of the NF2 gene, but not to the direct compression of the tumors, because the localization of his schwannomas in the cauda equina and the spinal cord could not explain his symmetric polyneuropathy. Although this patient showed no characteristic clinical manifestations such as cutaneous lesions, gadolinium-enhanced brain and spinal cord MRI was useful for the detection of asymptomatic schwannomas. NF2 should be considered as a differential diagnosis in patients with axonal polyneuropathy, even if it is late-onset.
pubmed:language
jpn
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0009-918X
pubmed:author
pubmed:issnType
Print
pubmed:volume
49
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
419-23
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
[A case of neurofibromatosis type 2 (NF2) presenting with late-onset axonal polyneuropathy].
pubmed:affiliation
Department of Neurology, Hematology, Metabolism, Endocrinology and Diabetology (DNHMED), Yamagata University.
pubmed:publicationType
Journal Article, English Abstract, Case Reports