Abstract
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 ultra-structure 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.
Keyword
Congenital spongy degeneration of the brain - micrencephaly - ponto-cerebellar atrophy
- glial dystrophy
