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34 year old man with headache, vertigo, clumsiness, and unsteady vision
Digital Journal of Ophthalmology 1996
Volume 2, Number 1
August 14, 1996
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Melanie Ryan-Graham, MD | Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA Simmons Lessell, MD | Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA
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| Differential Diagnosis | The clinical impression at this time was downbeat nystagmus (DBN), and a cervicomedullary junction abnormality with associated headacahe, vertigo, ataxia, and dysmetria was suspected.
There are multipe etiologies of DBN, many of which are related to pathology at the cervicomedullary junction. These include anatomical anomalies of the posterior fossa, infarction, particularly of the vertebrobasilar system, cerebellar degeneration syndromes such as Friedreich's ataxia and olivopontocerebellar atrophy, and multiple sclerosis. 1 Structural lesions of the cervicomedullary junction include Arnold Chiari malformations2, syringomyelia, local and metastatic neoplastic processes, and bony abnormalities of the foramen magnum such as platybasia and basilar invagination.
Neoplastic disease can also produce a paraneoplastic cerebellar degenerative process with DBN3. The paraneoplastic cerebellar degeneration syndrome is commonly found with Hodgkin's lymphoma, as well as with breast, ovarian, and small cell lung cancer, and is characterized by a subacute onset of symmetical truncal and appendicular ataxia, dysarthria, and downbeat nystagmus.
Infections such as with the Herpes virus, the human immunodeficiency virus, and the Creutzfeldt-Jakob prion should also be considered. Drug toxicitity has also been associated with DBN, in particular the antiseizure medications carbamazepine and phenytoin, as well as lithium4, 5. Sporadic cases have also been reported among users of amiodarone and felbamate. DBN has also been reported with vitamin B12 and thiamine deficiency, alcohol use6, and magnesium deficiency. Congential DBN without associated abnormalities and DBN associated with blue cone monachromatism are rare. | |
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