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).
The present paper reports on 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. Both children died soon after one year of age. The anatomic examination performed in one case revealed a spongy degeneration of the brain of van Bogaert-Bertrand type. Associated to 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 the 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 or finger-print type. Association of the degenerative with the malformative process is not considered to be accidental but based upon the same fundamental pathologic process: glial dystrophy. It may be assumed that the pathologic defect, which as a rule produces syndromes that appear after birth (spongy degeneration of the brain, ponto-cerebellar atrophy), 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.
D001284:Atrophy; D001921:Brain / Q000002:abnormalities*; D002531:Cerebellum / Q000002:abnormalities / Q000473:pathology; D004200:Diseases in Twins; D006801:Humans; D007231:Infant, Newborn; D008064:Lipidoses / Q000473:pathology*; D008297:Male; D008854:Microscopy, Electron; D009457:Neuroglia; D011149:Pons / Q000002:abnormalities / Q000473:pathology; D011689:Purkinje Cells / Q000648:ultrastructure; D013577:Syndrome