Hydranencephaly

Common Name(s)

Hydranencephaly

Hydranencephaly is a rare condition in which the brain's cerebral hemispheres are absent and replaced by sacs filled with cerebrospinal fluid (CSF). Affected infants may appear and act normal at birth, but irritability and hypertonia often develop within a few weeks. Other signs and symptoms may include seizures, hydrocephalus, visual impairment, lack of growth, deafness, blindness, paralysis, and intellectual disabilities. Prognosis is typically poor with many affected children dying before one year of age. In rare cases, children may survive for several years or more. It has been suspected to be an inherited condition, although some researchers believe it may be caused by prenatal blockage of the carotid artery where it enters the cranium. Treatment is generally symptomatic and supportive; hydrocephalus may be treated with a shunt.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hydranencephaly" for support, advocacy or research.

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hydranencephaly" for support, advocacy or research.

Logo
Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Hydranencephaly" returned 17 free, full-text research articles on human participants. First 3 results:

A novel homozygous variant in SERPINH1 associated with a severe, lethal presentation of osteogenesis imperfecta with hydranencephaly.
 

Author(s): Charlotte Marshall, Jaime Lopez, Laura Crookes, Rebecca C Pollitt, Meena Balasubramanian

Journal: Gene. 2016 Dec;595(1):49-52.

 

Osteogenesis imperfecta (OI) is a genetic disorder characterised by low bone mineral density resulting in fractures. 85-90% of patients with OI carry a variant in the type 1 collagen genes, COL1A1 and COL1A2, which follows an autosomal dominant pattern of inheritance. However, within ...

Last Updated: 31 Dec 1969

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Zika Virus Infection and Stillbirths: A Case of Hydrops Fetalis, Hydranencephaly and Fetal Demise.
 

Author(s): Manoel Sarno, Gielson A Sacramento, Ricardo Khouri, Mateus S do Rosário, Federico Costa, Gracinda Archanjo, Luciane A Santos, Nivison Nery, Nikos Vasilakis, Albert I Ko, Antonio R P de Almeida

Journal:

 

The rapid spread of Zika virus in the Americas and current outbreak of microcephaly in Brazil has raised attention to the possible deleterious effects that the virus may have on fetuses.

Last Updated: 31 Dec 1969

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TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis.
 

Author(s): Setsuri Yokoi, Naoko Ishihara, Fuyuki Miya, Makiko Tsutsumi, Itaru Yanagihara, Naoko Fujita, Hiroyuki Yamamoto, Mitsuhiro Kato, Nobuhiko Okamoto, Tatsuhiko Tsunoda, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki, Seiji Kojima, Shinji Saitoh, Hiroki Kurahashi, Jun Natsume

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TUBA1A mutations cause a wide spectrum of lissencephaly and brain malformations. Here, we report two patients with severe cortical dysgeneses, one with an extremely thin cerebral parenchyma apparently looking like hydranencephaly and the other with lissencephaly accompanied by marked ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Hydranencephaly" returned 3 free, full-text review articles on human participants. First 3 results:

Hydranencephaly: Considering Prolonged Survival and Treatment by Endoscopic Choroid Plexus Coagulation.
 

Author(s): Coby Ray, James Mobley, Mark Thompson, Laszlo Nagy

Journal: Turk Neurosurg. 2015 ;25(5):788-92.

 

Arachnoid collapse is a previously unreported complication of endoscopic choroid plexus coagulation (ECPC) treatment of hydranencephaly and is demonstrated in this case report. The variable anatomy found in hydranencephaly supports the use of ECPC as the preferred treatment option. ...

Last Updated: 31 Dec 1969

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Hydranencephaly: cerebral spinal fluid instead of cerebral mantles.
 

Author(s): Piero Pavone, Andrea D Praticò, Giovanna Vitaliti, Martino Ruggieri, Renata Rizzo, Enrico Parano, Lorenzo Pavone, Giuseppe Pero, Raffaele Falsaperla

Journal:

 

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 ...

Last Updated: 31 Dec 1969

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First-trimester features of Fowler syndrome (hydrocephaly-hydranencephaly proliferative vasculopathy).
 

Author(s): H Laurichesse-Delmas, A M Beaufrère, A Martin, A G Kaemmerlen, P Déchelotte, D Lémery

Journal: Ultrasound Obstet Gynecol. 2002 Dec;20(6):612-5.

 

We describe the features of Fowler syndrome (proliferative vasculopathy and hydrocephaly-hydranencephaly) diagnosed in the first trimester. The pregnancy with no significant family history was referred for karyotyping and ultrasound examination after a cystic hygroma was seen at 12 ...

Last Updated: 31 Dec 1969

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.