FUKUYAMA CONGENITAL
MUSCULAR DYSTROPHY: NEUROPATHOLOGY AND IMMUNOHISTOCHEMISTRY
Qin J1, Mizuguchi M2, Itoh
M2, Takashima S2
1 Peking University First Hospital, Beijing,
China
2 National Institute of Neuroscience, NCNP,
Tokyo, Japan
Objective: To
elucidate the neuropathological features of Fukuyama type congenital
muscular dystrophy (FCMD) and the related immuno-expression in its cerebral
cortices.
Methods: Cerebral
cortices of 8 FCMD cases were from the Brain Bank in the National Institute
of Neuroscience, NCNP. Nine age-matched normal brains were obtained as a
control group. H&E and Kluver-Barrera staining was used for the
neuropathological study. For immunohoistochemical research, the antisera
anti-DCX2 (specific to doublecortin protein) and anti-LIS1 (specific to
LIS1 protein, responsible for Miller-Dieker syndrome ) were involved.
Results:
All FCMD brains showed malformations.
Polymicrogyria was found in cerebral cortex in all, and in cerebellar
cortices in 5 cases. Pachygyria was demonstrated in the fronto-parietal or
cerebellar regions in 3 cases. In the control group, DCX
immunoreactivity was detected predominantly in the fetal cerebral cortex,
and only left weak immunoreactivity in pyramidal cells after birth. A
similar expression of LIS1 to DCX2 was demonstrated The abnormal
distribution of DCX immunolabeling was associated with neuronal
disarrangement in FCMD.
Conclusion:
FCMD is a congenital disorder with brain malformation, particularly polymicrogyria and pachygyria, with an abnormal distribution
of DCX expression, associated with neuronal disarrangement.