Asymmetric arthrogryposis multiplex congenita with focal pachygyria

A male infant with predominantly right-sided arthrogryposis multiplex conge nita is presented. His posture in the lower extremities was asymmetric, and left thoracic scoliosis was present. This patient also manifested focal pa chygyria dominantly affecting the contralateral cerebral hemisphere and hyp oplasia of the corpus callosum, brainstem, and cerebellar vermis. Generaliz ed tonic seizures began at 2 months of age, and an electroencephalogram rev ealed epileptic discharge. Biopsy of the right biceps revealed a nonspecifi c change. A direct causal relationship between neuronal migration disorders and arthrogryposis multiplex congenita has not been established, but consi dering the abnormal neuronal migration along the entire neural axis in foca l pachygyria, the predominantly right-sided arthrogryposis in this patient was speculated to be closely related to the pachygyria of the frontal and t emporal lobes dominantly affected in the left cerebral hemisphere. (C) 2001 by Elsevier Science Inc. All rights reserved.