Acta neurologica Scandinavica · 1999
Hyperekplexia in a patient with a brainstem vascular anomaly.
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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
Аннотация
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 alpha1 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.
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 alpha1 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.