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

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.

Congenital Pelizaeus-Merzbacher Disease (Seitelberger Type), Malformation and Cystic Degeneration of the Central Nervous System

“…In conclusion, the congenital malformations described are marked not only by structural alterations of the nervous formations (cerebral hemispheres and cerebellum) but also by disturbances in the function of the glialsystem,(myelination glia), with consecutive absence of myelin sheaths (a~lasia) and persistence of the cystic degeneration in the cerebellum. Our case emphasized the relationship that may exist between congenital malformations and different connatal evolving diseases such as leucodystrophy (Norman), congenital Pelizaeus-Merzbacher disease (connatal Seitelberger type) or other, more recently described syndromes in children (Vuia 1977).…”

Posterior Fossa in Primary Microcephaly: Relationships between Forebrain and Mid-Hindbrain Size in 110 Patients

“…Primary microcephaly has, until recently, been thought to have a benign prognosis, with patients usually exhibiting only mild developmental retardation. 1,2 However, along with the increase in reports of primary microcephaly, an increasing number of microcephalic patients with disproportionally small posterior fossa structures have been reported, [9][10][11][12][13][14][15] manifesting varying severity of clinical outcome, as well as variable inheritance patterns. Posterior fossa contents in primary microcephaly patients should be carefully analyzed, along with the degree of microcephaly, gyration, and presence of other associated malformations, to consider the prognosis and potential genetic causes.…”

“…Some reports have described a disproportionately small cerebellum and/or brain stem in primary microcephalic patients. [7][8][9][10][11][12][13][14][15] However, most of these reports described a small numbers of patients, and specific mutations were not described. Although occasional reports have described patients with primary microcephaly associated with a cerebellum that is small in proportion to the cerebrum, [16][17][18][19][20] details about relative size proportionality between the forebrain (cerebrum) and hindbrain (cerebellum and brain stem) have not been critically examined.…”

Mitochondria morphopathological changes in human congenital hydrocephalus, Arnold-Chiari malformation and postmeningitis hydrocephalus. An electron microscopic study

“…Vuia 1 reported two twin brothers diagnosed with congenital spongy degeneration of the brain featured by 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. Watanabe 2 described in a 51/2-year-old boy with congenital myopathy associated with communicating hydrocephalus myofibrillar disorganization and Z-band streaming with decrease or absence of mitochondria.…”