Premium
Autopsy case of acute encephalopathy linked to familial hemiplegic migraine with cerebellar atrophy and mental retardation
Author(s) -
Takahashi Tatsuya,
Arai Nobutaka,
Shimamura Megumi,
Suzuki Yume,
Yamashita Sumimasa,
Iwamoto Hiroko,
Inayama Yoshiaki,
Kameda Youichi,
Kuroiwa Yoshiyuki
Publication year - 2005
Publication title -
neuropathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.701
H-Index - 61
eISSN - 1440-1789
pISSN - 0919-6544
DOI - 10.1111/j.1440-1789.2005.00604.x
Subject(s) - medicine , atrophy , pathology , encephalopathy , cerebellar ataxia , cerebellar vermis , cerebellum , cerebellar cortex , olivopontocerebellar atrophy , ataxia , degenerative disease , disease , psychiatry
A 19‐year‐old female patient, who had exhibited esotropia, mild cerebellar ataxia, mild mental retardation, and cerebellar atrophy on magnetic resonance images at the age of 15, developed signs of acute encephalopathy, and thereafter died of disseminated intravascular coagulation on the day of her admission. Both her mother and sister suffered from attacks of hemiplegic migraine, mild mental retardation, and cerebellar ataxia. Neuropathological examinations revealed acute changes in the widespread cerebral cortex, chronic degenerative changes in the anterior lobe of the cerebellar vermis, axonal spheroids in the Goll's nucleus, pseudo‐calcinosis in the globus pallidus, and glial bundles in the cranial nerves. The most fascinating features were changes of Purkinje cells, such as cactuses (asteroid bodies, dendritic expansions), somatic sprouts, and torpedoes. These changes may be characteristic of familial hemiplegic migraine with cerebellar atrophy, as well as the other metabolic diseases, such as Menkes’ kinky hair disease, infantile (Tay–Sachs type) amaurotic idiocy, organic mercury intoxication, and mitochondrial encephalopathy, of which cases often exhibit such pathological changes of Purkinje cells. Therefore, familial hemiplegic migraine may share some metabolic abnormalities with the diseases mentioned above.