Light passing through the skull of a hydranencephalic baby, underscoring the absence of the forebrain —Image courtesy of D. P. Agamanolis
Specialty
Medical genetics
Hydranencephaly[1] is a condition in which the brain's cerebral hemispheres are absent to a great degree and the remaining cranial cavity is filled with cerebrospinal fluid.[2] "Cephalic" is the scientific term for "head" or "head end of body".
Hydranencephaly[3] is a type of cephalic disorder. These disorders are congenital conditions that derive from damage to, or abnormal development of, the fetal nervous system in the earliest stages of development in utero. These conditions do not have any definitive identifiable cause factor. Instead, they are generally attributed to a variety of hereditary or genetic conditions, but also by environmental factors such as maternal infection, pharmaceutical intake, or even exposure to high levels of radiation.[4]
Hydranencephaly should not be confused with hydrocephalus, which is an accumulation of excess cerebrospinal fluid in the ventricles of the brain.
In hemihydranencephaly, only half of the cranial cavity is affected.[5]
^Kandel, Eric R. (2013). Principles of neural science (5. ed.). Appleton and Lange: McGraw Hill. p. 1020. ISBN 978-0-07-139011-8.
^"Hydranencephaly: Definition, Information, Diagnosis & Prognosis". 29 September 2012. Retrieved 24 February 2018.
^National Organization for Rare Disorders. "Hydranencephaly". Rare Diseases Information.[permanent dead link]
^National Institute of Neurological Conditions and Stroke, NINDS. "Hydranencephaly Information Page". Disorders. Archived from the original on 2016-12-02. Retrieved 2011-06-19.
^Ulmer S, Moeller F, Brockmann MA, Kuhtz-Buschbeck JP, Stephani U, Jansen O (2005). "Living a normal life with the nondominant hemisphere: magnetic resonance imaging findings and clinical outcome for a patient with left-hemispheric hydranencephaly". Pediatrics. 116 (1): 242–5. doi:10.1542/peds.2004-0425. PMID 15995064. S2CID 45671819.
diagnosis of hydranencephaly. In some cases severe hydrocephalus, or another cephalic condition, is misdiagnosed.[citation needed] Hydranencephaly is an extreme...
which can result in an enlarged head. The cause of hydranencephaly is not clear. Hydranencephaly is a result of an injury of the nervous system or an...
abnormality of brain development characterized by both microcephaly and hydranencephaly. Signs and symptoms may include severe microcephaly, scalp rugae (a...
transmit light. Any uncertainty should be followed up with an ultrasound. Hydranencephaly is a condition in which the brain's cerebral hemispheres are absent...
severe brain damage that occurred in-utero, including microcephaly and hydranencephaly. Exaggeration of the Moro reflex, either due to low threshold or excessive...
stem supports an elementary form of conscious thought in infants with hydranencephaly. "Higher" forms of awareness including self-awareness require cortical...
spinal muscular atrophy, neural tube defects, holoprosencephaly, and hydranencephaly. Clubfoot can be diagnosed prenatally as early as 13 weeks of gestation...
drenching sweats; malaise; headache; red spotty rash. Bats: Asymptomatic Hydranencephaly: meaning the cerebral cortex has a large cavity where the cerebral...
immature fetal cells of the central nervous system and skeletal muscle. Hydranencephaly has also been identified in goat kids with presumptive in utero infection...
this locus have been associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome. GRCh38: Ensembl release 89: ENSG00000119686...
"Zika Virus Infection and Stillbirths: A Case of Hydrops Fetalis, Hydranencephaly and Fetal Demise". PLOS Negl Trop Dis. 10 (2): e0004517. doi:10.1371/journal...
ganglia, pons, medulla, cerebellum, and falx. It is a special type of hydranencephaly. It is a very rare disease. As it stands, only 9 cases have been reported...
"Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome)". American Journal of Human...
Mutations in the gene are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH, also known as Fowler syndrome). Related...
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