Congenital Spongy Degeneration of the Brain (Van Bogaert – Bertrand) Associated with Micrencephaly and Ponto – Cerebellar Atrophy (Contributions to the Pathology of Glial Dystrophy of Intrauterin Origin)

Abstract

Two twin brothers who presented clinically at birth a syndrome characterized by progressive development of muscular hypertonia, opisthotonus, micrencephaly, amaurosis and short, localized clonic seizures were reported. Both children died soon after 1 yr of age. The anatomic examination performed in 1 case revealed a spongy degeneration of the brain of van Bogaert-Bertrand type. Associated with the cerebral degenerative syndrome was a severe malformative syndrome characterized by micrencephaly, internal hydrocephalus and pontocerebellar atrophy. The ultrastructure of the cerebellar cortex showed degenerative phenomena in Purkinje and glial cells, demonstrating the evolutive character of the ponto-cerebellar lesions. The degenerative process consisted of the accumulation of lamellar bodies within the mitochondria and free in the cellular cytoplasm with tendency to form inclusions of the multilamellar for finger-print type. Association of the degenerative with the malformative process was probably not accidental but based upon the same fundamental pathologic process: glial dystrophy. The pathologic defect, which as a rule produces syndromes that appear after birth (spongy degeneration of the brain, ponto-cerebellar atropy), may in some instances act at an early date in intrauterine life, the glial dystrophy that appears so early producing both the degenerative and the malformative process.