ABSTRACT
BACKGROUND: Avellis' syndrome (lateral medulla oblongata ischaemia) is a rare neurological disorder. Early recognition of brain stem infarction may prevent referral to specialists other than a neurologist. CASE DESCRIPTION: A 53-year-old woman was initially presented to an internist with acute onset of headache, dysphagia, nausea and vomiting. She was also hoarse and had a tingling feeling on the left side of her face, and in her left arm and leg. A neurologist was consulted and diagnosed Avellis' syndrome. MRI of the brain revealed ischaemia in the lateral medulla oblongata on the right side. CONCLUSION: Brain stem infarction may be hard to recognize as lateralization is often less predominant than in hemispheric syndromes. In acute onset of dysphagia, the differential diagnosis should always include brain stem infarction.
Subject(s)
Brain Stem Infarctions/diagnosis , Deglutition Disorders/diagnosis , Medulla Oblongata/blood supply , Medulla Oblongata/pathology , Brain Ischemia/complications , Brain Ischemia/diagnosis , Brain Stem Infarctions/complications , Deglutition Disorders/etiology , Female , Humans , Middle Aged , SyndromeABSTRACT
INTRODUCTION: Familial hemiplegic migraine (FHM) is characterized by the familial occurrence of migraine attacks with fully reversible transient hemiplegia. Mutations in three different genes have been identified; CACNA1A (FHM1), ATP1A2 (FHM2) and SCN1A (FHM3). Besides hemiplegia, several other symptoms have been described in FHM 1-3 mutation carriers, including epilepsy and cerebellar symptoms. CASE REPORT: We describe two patients in whom hemiplegic attacks were not the presenting symptom, but in whom an otherwise unexplained head tremor led us to search for FHM mutations. Both patients carried a mutation in the CACNA1A gene. DISCUSSION: CACNA1A mutations can give significant symptoms other than (hemiplegic) migraine as reason for presentation.
