BRAIN DYSPLASIA ASSOCIATED WITH LARSEN-LIKE SYNDROME

We present an autopsy case of Larsen-like syndrome with unusually seve re neurologic complications. The patient, a 3-gear-old girl, manifeste d severe psychomotor retardation, tetraplegia, and intractable partial seizures as well as multiple joint dislocations with other skeletal d eformities, minor external anomalies, and laryngotracheomalacia. Neuro pathological examination of the brain revealed (1) cortical dysgenesis in the bilateral perisylvian region; (2) protrusions of the brain par enchyma into the subarachnoid space, (3) abnormal arrangement of oliva ry neurons, (4) dilation of the lateral ventricles with subventricular gliosis and multiple glial nodules, (5) hypoplasia of the cerebral wh ite matter with subcortical astrocytosis, and (6) necrotic change in S ommer sector of the hippocampus. There were no microscopic abnormaliti es in the mesenchymal tissue of the brain (i.e., vascular walls and th e meninges). Cortical dysgenesis in the perisylvian region was charact erized by a zonal heterotopia of pyramidal and granule neurons in the molecular layer, which clinically may be closely related to intractabl e partial seizures in the orofacial area. Findings 1, 2, and 3 may rep resent a disturbance of neuroblast migration, speculated to have occur red during the latest stage of migration (around 20-25 weeks gestation ). There are few published reports describing the combination of Larse n-like syndrome and brain dysplasia, Correlation of brain dysplasia wi th congenital skeletal abnormalities is unclear in our patient. We spe culate that systemic hypoxic-ischemic insults during the second half o f gestation and/or some genetic factors might be possible causes of br ain dysplasia.