Abstract：
BACKGROUND:Sporadic and familial hemiplegic migraines are rare paroxysmal disorders characterized by transient hemiparesis and headache. The distinction is based on whether other family members are affected. In 50% of cases, these migraines are caused by CACNA1 A missense mutations. PATIENTS:We describe a boy with a particularly severe phenotype and a de novo R1349Q mutation of the CACNA1 A gene. RESULTS:The patient suffered from early-onset profound mental retardation, epileptic seizures, cerebellar ataxia, and progressive cerebellar atrophy. He experienced prolonged attacks of migraine with hemiparesis, seizures, altered consciousness, and fever resulting from minor head traumas. A prolonged hemiplegic attack improved following a 5-day treatment of 100 mg/d methylprednisolone. CONCLUSION:R1349Q mutation of the CACN1 A gene may be associated with a severe phenotype. Corticoids might be beneficial in prolonged hemiplegic attacks.
journal_name
Pediatr Neuroljournal_title
Pediatric neurologyauthors
Sánchez-Albisua I,Schöning M,Jurkat-Rott K,Lerche Hdoi
10.1016/j.pediatrneurol.2013.04.011subject
Has Abstractpub_date
2013-10-01 00:00:00pages
286-8issue
4eissn
0887-8994issn
1873-5150pii
S0887-8994(13)00223-3journal_volume
49pub_type
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