Arthrogryposis multiplex congenita with callosal agenesis and dentato-olivary dysplasia.
We report the autopsy case of a boy with arthrogryposis multiplex congenita, associated with callosal agenesis and dentato-olivary dysplasia. The patient manifested with dysmorphic facial features and suffered from intractable epilepsy during the neonatal period. These sets of complications suggest that a common molecular mechanism may be involved in the development of corpus callosum and the folding of the dentate and inferior olivary nuclei. Deep brain structures, including the brainstem and the cerebellum, may be involved in the pathophysiology of symptomatic generalized epilepsy. The differential diagnoses for the clinical and pathological characteristics of this patient are discussed.
Saito
Yoshiaki
Y
Department of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago 683-8504, Japan. saitoyo@fb3.so-net.ne.jp
Hayashi
Masaharu
M
Miyazono
Yayoi
Y
Shimogama
Tatsuro
T
Ohno
Kousaku
K
D061085:Agenesis of Corpus Callosum; D001176:Arthrogryposis / Q000150:complications*; D001921:Brain / Q000002:abnormalities* / Q000503:physiopathology*; D002529:Cerebellar Nuclei / Q000002:abnormalities; D019465:Craniofacial Abnormalities / Q000150:complications; D004827:Epilepsy / Q000151:congenital / Q000209:etiology* / Q000503:physiopathology; D017809:Fatal Outcome; D006801:Humans; D018476:Hypokinesia / Q000150:complications / Q000235:genetics / Q000503:physiopathology; D007223:Infant; D008297:Male; D009421:Nervous System Malformations / Q000150:complications / Q000175:diagnosis / Q000503:physiopathology*; D009434:Neural Pathways / Q000002:abnormalities; D009847:Olivary Nucleus / Q000002:abnormalities; D013577:Syndrome