Hydranencephaly?Clinical and neuropathological aspects

Abstract

SummaryWe report a case of hydranencephaly with its clinical and morphological aspects. The origin of hydranencephaly is discussed. There is strong evidence of very early damage to the brain substance in this condition. Therefore this disease should not be regarded as a malformation. The diagnostic procedures are described and their values discussed.Since the first description of a patient by Curveilher 6 "with a normal head and face but without a brain" many authors have described such cases. Curveilher 6 coined the word "hydranencephaty", whereas other authors called it "cerebral agenesis" 34, "aplasia of the cerebral hemispheres" 15, or "a child without a forebrain" 3. Two years ago, we saw a child whose first clinical diagnosis was hydrocephalus on admission. Further clinical investigations and necropsy revealed hydranencephalus. Classification and IncidenceThe term "hydranencephaly" is agreed to describe an anomaly of the central nervous system consisting of nearly complete absence of the cerebral hemispheres but without anomaly of the covering layers. It has been called a destructive lesion by de Myer 7, and it has to be differentiated from disorders of size (i.e., macrocephalus), disorders of sulcation and migration (i.e., schizencephaly), disorders of diverticulation (i.e., holoprosencephaly), and disorders of closure (i.e., cranioschisis).

Hydranencephaly with extensive periventricular necrosis and numerous ectopic glioneuronal nests

“…Furthermore, it was noteworthy that numerous ependymal rosettes were present in the periventricular region. Periventricular lesions with ependymal rosettes in the brainstem have been reported in two out of 23 autopsy cases of hydranencephaly described in the published literature 1,6–15 . One of these two cases was a severe form of hydranencephaly, as in the present case, showing absence of most of the cerebral cortex and a relatively preserved brainstem 9 .…”

“…Periventricular lesions with ependymal rosettes in the brainstem have been reported in two out of 23 autopsy cases of hydranencephaly described in the published literature. 1,[6][7][8][9][10][11][12][13][14][15] One of these two cases was a severe form of hydranencephaly, as in the present case, showing absence of most of the cerebral cortex and a relatively preserved brainstem. 9 The other was a rare case of hydranencephaly located in the territory of vertebralbasilar arteries, probably a result of intraventricular hemorrhage.…”

An autopsy case of congenital hydrocephalus and severe thinning of the cerebral cortex in a 4‐year‐old boy

“…Generally, the destruction of the cerebrum is more prominent with that of the brainstem and cerebellum, with only a small part of the cerebrum being preserved. 1 Most of the reports on autopsy findings of hydrocephalus [2][3][4][5][6][7][8] indicate marked hypoplasia of the cerebrum and various abnormalities in the brainstem and cerebellum (Table 1). Neuropathological changes were more severe in the brainstem and cerebellum in cases of short survival than in those of long survival.…”

Auditory Behaviors and Auditory Brainstem Responses of Infants with Hypogenesis of Cerebral Hemispheres

“…In the case of auditory functions, perceptual and cognitive abilities in humans are associated with the cerebral cortex but re exive behavior originates in the brainstem and midbrain (12,13). In neonates and children, auditory functions are determined by behavioral audiometry, conditioned orientation re ex audiometry, play audiometry and pure-tone audiometry (14,15).…”