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Hyperekplexia in a patient with a brainstem vascular anomaly
Author(s) -
Gambardella A.,
Valentino P.,
Annesi G.,
Oliveri R. L.,
Bono F.,
Mazzei R. L.,
Conforti F. L.,
Aguglia U.,
Zappia M.,
Pardatscher K.,
Quattrone A.
Publication year - 1999
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1111/j.1600-0404.1999.tb07358.x
Subject(s) - brainstem , medicine , reflex , psychology , clonazepam , lesion , neuroscience , moro reflex , audiology , anesthesia , pathology
Objectives – To describe a patient with a clinical picture suggestive of idiopathic hyperekplexia (IH), who was later found to harbour a subtle brainstem vascular anomaly. Patient – A 35‐year‐old man, 4 years earlier, developed sudden jumping and falling in response to unexpected sensory stimuli. Results – Neurological examination was normal. Electromyography showed an excessively large and non‐habituating motor startle response. There were no mutations of the α 1 subunit of the inhibitory glycine receptor which cause hereditary hyperekplexia. Although all these findings were consistent with a diagnosis of IH, a blink reflex study showed an enhanced recovery curve suggestive of a brainstem lesion. A detailed MRI study revealed a subtle vascular anomaly involving the lower brainstem. Conclusion – This is the first report of sporadic hyperekplexia related to a brainstem vascular anomaly. Subtle damage to the brainstem should always be excluded in patients with sporadic hyperekplexia, regardless of the coexistence of additional clear‐cut neurological symptoms.