EPILEPTIC SEIZURES, ARTHROGRYPOSIS, AND MIGRATIONAL BRAIN DISORDERS -A SYNDROME

Introduction - Arthrogryposis multiplex congenita (AMC) may be associa ted with multiple developmental defects. In some severely affected new borns with AMC, autopsy studies have suggested a common mechanism of m almigration at the spinal and cerebral levels. To our knowledge, a con stellation of arthrogryposis, epileptic seizures, and brain migrationa l anomalies in adult patients has not previously been described in a c linical material. Material and methods - Six consecutive adult patient s with arthrogryposis multiplex congenita and epileptic seizures form the basis of the present study. Five patients had joint contractures a nd reduced muscle volume restricted to the lower extremities, whereas one patient had predominantly upper extremity affection. They were stu died with magnetic resonance imaging (MRI), EEG, EMG, a neuropsycholog ical test battery, and chromosome analysis. Results - Four of them had clear evidence of migrational brain disorders, demonstrated by MRI, i n three of them roughly corresponding to the focal epileptiform EEG ac tivity. Five of the patients had partial seizures, whereas one only ha d generalized tonic-clonic seizures. The MRI findings included polymic rogyria, pachygyria, and fused schizencephaly. Four had neurogenic EMG changes, one had myopathic EMG features, and one had an unremarkable EMG pattern in affected muscles. All patients with demonstrable migrat ional disorders showed abnormal neuropsychological features. Three pat ients were mentally retarded. A chromosome abnormality in the form of a ring chromosome 18 was present in one patient. Conclusion - We sugge st that AMC, epileptic seizures, and migrational brain disorders may f orm the integral parts of a hitherto undescribed syndrome in adults. A wide-spread defect in neuronal migration along the entire neural axis may be the underlying mechanism of the cerebral and the peripheral sy mptoms.