J Korean Med Sci.  2012 Sep;27(9):1124-1127. 10.3346/jkms.2012.27.9.1124.

Familial Hemiplegic Migraine with Prolonged Coma and Cerebellar Atrophy: CACNA1A T666M Mutation in a Korean Family

• Choi KH
• Kim JS
• Lee SY
• Ryu SW
• Kim SS
• Lee SH
• Kim S
• Park HK

• KMID: 1782151
• DOI: http://doi.org/10.3346/jkms.2012.27.9.1124

Abstract

We report the first Korean patient with familial hemiplegic migraine type 1, with clinical and multimodal imaging findings. A 43-yr-old man was admitted for right hemianopia and aphasia, followed by coma. MRI showed only cerebellar atrophy. CT angiography showed mild vasodilation of intracranial blood vessels and increased vascularity in the left hemisphere and perfusion-weighted imaging showed elevated cerebral blood flow. Gene analysis of the patient and his mother led to the identification of a heterozygous point mutation (1997C-->T, T666M) in exon 16 of the CACNA1A gene. Familial hemiplegic migraine should be considered in patients with episodic neurological dysfunction with cerebellar atrophy.

Keyword

CACNA1A Gene; Cerebellar Atrophy; Familial Hemiplegic Migraine; T666M

MeSH Terms

Asian Continental Ancestry Group/*genetics
Atrophy/genetics/metabolism
Calcium Channels/*genetics
Cerebellum/blood supply/*pathology
Cerebral Angiography
Coma/*diagnosis
Exons
Heterozygote
Humans
Magnetic Resonance Imaging
Male
Migraine with Aura/*diagnosis/genetics
Point Mutation
Republic of Korea
Tomography, X-Ray Computed
Calcium Channels

Figure

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  Fig. 1 Family pedigree. The index patient and his mother had recurrent transient hemiparesis.

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  Fig. 2 Brain MRI and CT angiography of this patient. (A) T1-weighted sagittal MRI shows prominent cerebellar atrophy. (B) CT angiography performed during the coma and 3 hr after the current symptom onset shows mild vasodilation of the intracranial blood vessels and increased vascularity in the left hemisphere. (C) CBF map during the coma and 4 hr after the symptom onset shows hyperperfusion in the left hemisphere.

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  Fig. 3 EEG shows persistent arrhythmic delta activity over the left hemisphere. The patient was comatose during the recording, 6 hr after the symptom onset.

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