Hydranencephaly: cerebral spinal fluid instead of cerebral mantles

There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

Abstract

The authors report a wide and updated revision of hydranencephaly, including a literature review, and present the case of a patient affected by this condition, still alive at 36 months.

Hydranencephaly is an isolated and with a severe prognosis abnormality, affecting the cerebral mantle. In this condition, the cerebral hemispheres are completely or almost completely absent and are replaced by a membranous sac filled with cerebrospinal fluid. Midbrain is usually not involved. Hydranencephaly is a relatively rare cerebral disorder. Differential diagnosis is mainly relevant when considering severe hydrocephalus, poroencephalic cyst and alobar holoprosencephaly. Ethical questions related to the correct criteria for the surgical treatment are also discussed.

Related collections

Most cited references 68

Record: found
Abstract: found
Article: not found

Consciousness without a cerebral cortex: a challenge for neuroscience and medicine.

Bjorn Merker (2007)

A broad range of evidence regarding the functional organization of the vertebrate brain - spanning from comparative neurology to experimental psychology and neurophysiology to clinical data - is reviewed for its bearing on conceptions of the neural organization of consciousness. A novel principle relating target selection, action selection, and motivation to one another, as a means to optimize integration for action in real time, is introduced. With its help, the principal macrosystems of the vertebrate brain can be seen to form a centralized functional design in which an upper brain stem system organized for conscious function performs a penultimate step in action control. This upper brain stem system retained a key role throughout the evolutionary process by which an expanding forebrain - culminating in the cerebral cortex of mammals - came to serve as a medium for the elaboration of conscious contents. This highly conserved upper brainstem system, which extends from the roof of the midbrain to the basal diencephalon, integrates the massively parallel and distributed information capacity of the cerebral hemispheres into the limited-capacity, sequential mode of operation required for coherent behavior. It maintains special connective relations with cortical territories implicated in attentional and conscious functions, but is not rendered nonfunctional in the absence of cortical input. This helps explain the purposive, goal-directed behavior exhibited by mammals after experimental decortication, as well as the evidence that children born without a cortex are conscious. Taken together these circumstances suggest that brainstem mechanisms are integral to the constitution of the conscious state, and that an adequate account of neural mechanisms of conscious function cannot be confined to the thalamocortical complex alone.

0 comments Cited 153 times – based on 0 reviews      Review now

Bookmark

Record: found
Abstract: found
Article: not found

Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome).

Esther Meyer, Christopher Ricketts, Neil V. Morgan … (2010)

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH), also known as Fowler syndrome, is an autosomal-recessively inherited prenatal lethal disorder characterized by hydranencephaly; brain stem, basal ganglia, and spinal cord diffuse clastic ischemic lesions with calcifications; glomeruloid vasculopathy of the central nervous system and retinal vessels; and a fetal akinesia deformation sequence (FADS) with muscular neurogenic atrophy. To identify the molecular basis for Fowler syndrome, we performed autozygosity mapping studies in three consanguineous families. The results of SNP microarrays and microsatellite marker genotyping demonstrated linkage to chromosome 14q24.3. Direct sequencing of candidate genes within the target interval revealed five different germline mutations in FLVCR2 in five families with Fowler syndrome. FLVCR2 encodes a transmembrane transporter of the major facilitator superfamily (MFS) hypothesized to be involved in regulation of growth, calcium exchange, and homeostasis. This is the first gene to be associated with Fowler syndrome, and this finding provides a basis for further studies to elucidate the pathogenetic mechanisms and phenotypic spectrum of associated disorders. Copyright 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

0 comments Cited 24 times – based on 0 reviews      Review now

Bookmark

Record: found
Abstract: found
Article: not found

Looking at the missing brain: hydranencephaly case series and literature review.

Renzo Manara, Giovanni Cecchetto, Alessia Viero … (2013)

Hydranencephaly is a severe congenital condition where most of the cerebral hemispheres are replaced by a membranous sac. Despite the growing amount of case reports, most pathogenic, phenotypic, and prognostic aspects of hydranencephaly remain controversial. By matching the recent literature data with the findings of our own series (four cases: two fetuses at the twelfth gestational week, a 32-year-old man, and a 14-year-old female), we attempted to date back the insult leading to hydranencephaly to understand its pathogenesis and to explain the basis of its protean phenotype. The variable detection of cerebral remnants seems to mirror the developmental pathway of cerebral arteries. Moreover, fetal and postnatal neuroimaging data and histopathologic findings point toward an early bilateral internal carotid artery occlusion, mostly occurring between the eighth and twelfth gestational weeks, as the main pathogenic mechanism of hydranencephaly. Copyright © 2013 Elsevier Inc. All rights reserved.

0 comments Cited 12 times – based on 0 reviews      Review now

Bookmark

All references

Author and article information

Contributors

Piero Pavone: ppavone@unict.it

Andrea D Praticò: terrenere178@tin.it

Giovanna Vitaliti: giovitaliti@yahoo.it

Martino Ruggieri: mruggie@unict.it

Renata Rizzo: rerizzo@unict.it

Enrico Parano: e.parano@unict.it

Lorenzo Pavone: lorenzo_pavone@hotmail.com

Giuseppe Pero: gpero@unict.it

Raffaele Falsaperla: raffaelefalsaperla@hotmail.com

Journal

Journal ID (nlm-ta): Ital J Pediatr

Journal ID (iso-abbrev): Ital J Pediatr

Title: Italian Journal of Pediatrics

Publisher: BioMed Central (London )

ISSN (Electronic): 1824-7288

Publication date (Electronic): 18 October 2014

Publication date Collection: 2014

Volume: 40

Electronic Location Identifier: 79

Affiliations

[ ]Unit of Pediatrics and Pediatric Emergency, University Hospital “Policlinico-Vittorio Emanuele”, Catania, Italy

[ ]Department of Formative Processes, University of Catania, Catania, Italy

[ ]Chair of Child Neuropsychiatry, University of Catania, Catania, Italy

[ ]Institute of Neurological Sciences, National Research Council, Catania, Italy

[ ]Neuroradiologic Unit, Department of Radiology, University of Catania, Catania, Italy

Article

Publisher ID: 79

DOI: 10.1186/s13052-014-0079-1

PMC ID: 4421920

PubMed ID: 25326191

SO-VID: c0ee8d37-3985-4ce9-bc67-2d77354b270c

License:

This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

History

Date received : 8 April 2014

Date accepted : 17 September 2014

Custom metadata

ScienceOpen disciplines: Pediatrics

Keywords: hydranencephaly,holoprosencephaly,congenital anomaly,brain malformation,severe hydrocephalus

Data availability:

ScienceOpen disciplines: Pediatrics

Keywords: hydranencephaly, holoprosencephaly, congenital anomaly, brain malformation, severe hydrocephalus

Hydranencephaly: cerebral spinal fluid instead of cerebral mantles

Read this article at

Abstract

Related collections

Cures Within Reach: Autoimmune Lymphoproliferative Syndrome (ALPS)

Most cited references 68

Consciousness without a cerebral cortex: a challenge for neuroscience and medicine.

Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome).

Looking at the missing brain: hydranencephaly case series and literature review.

Author and article information

Contributors

Journal

Affiliations

Article

History

Categories

Custom metadata

Comments

Comment on this article

Similar content 222

Cited by 12

Most referenced authors 515