Hydranencephaly

A rare cerebral malformation characterized by an almost or complete lack of cortex, specifically the cerebral hemispheres, with the cranium and meninges completely intact. In most cases, death occurs in utero or in the first weeks of life. Developmental delay, drug-resistant seizures, spastic diplegia, severe growth failure, deafness and blindness are typical.

Microcephaly

Head circumference below 2 standard deviations below the mean for age and gender.


Total: 3

                       


(per page)
PMID (PMCID)
26914330
(4767410)
 FEMALE Young Adult
Zika Virus Infection and Stillbirths: A Case of Hydrops Fetalis, Hydranencephaly and Fetal Demise.
Sarno M, Sacramento GA, Khouri R, do Rosario MS, Costa F, Archanjo G, Santos LA, Nery N Jr, Vasilakis N, Ko AI, de Almeida AR.
PLoS Negl Trop Dis. 2016;10(2):e0004517.
Ultrasound examinations in the 2nd and 3rd trimesters demonstrated severe microcephaly, hydranencephaly, intracranial calcifications and destructive lesions of posterior fossa, in addition to hydrothorax, ascites and subcutaneous edema.
18084237
 FEMALE Infant, Newborn
Chorioretinal dysplasia, hydranencephaly, and intracranial calcifications: pseudo-TORCH or a new syndrome?
Watts P, Kumar N, Ganesh A, Sastry P, Pilz D, Levin AV, Chitayat D.
Eye (Lond). 2008;22(5):730-3.
To report the association of severe chorioretinal dysplasia, hydranencephaly, microcephaly, and intracranial calcification in children with no evidence of intrauterine infections.
10762554
 MIXED_SAMPLE Infant
The novel genetic disorder microhydranencephaly maps to chromosome 16p13.3-12.1.
Kavaslar GN, Onengut S, Derman O, Kaya A, Tolun A.
Am J Hum Genet. 2000;66(5):1705-9.
We studied a large consanguineous Anatolian family with children who exhibited hydranencephaly associated with microcephaly.