Translate this page into:
Autopsy findings in a case of Hydranencephaly
*Corresponding author: Shagun Aggarwal, Department of Medical Genetics, Nizam’s Institute of Medical Sciences, Hyderabad, Telangana, India. shagun.genetics@gmail.com
-
Received: ,
Accepted: ,
How to cite this article: Aggarwal S, Tandon A. Autopsy findings in a case of Hydranencephaly. Wadia J Women Child Health. 2025;4:110-1. doi: 10.25259/WJWCH_20_2025
This composite image [Figure 1] presents the autopsy findings in a fetus presenting with hydranencephaly/severe hydrocephalus on antenatal ultrasound. On autopsy, the cerebral cortex was replaced by sac-like structures, representing the gross finding of hydranencephaly. Cerebellar atrophy was also found. On histopathology of the brain, characteristic findings like the presence of tufts of abnormal branching vessels on meningocortical surface, perforating vessels in the cerebral cortex, undifferentiated cells around vessels in the cortex, ill-formed cortical ribbon with nodules of undifferentiated cells, and granular cell nodules in the cerebellar cortex were found. No dystrophic calcification was seen in the brain or spinal cord. These findings were diagnostic of proliferative vasculopathy and hydranencephalyhydrocephaly syndrome, also known as Fowler syndrome. This is an autosomal recessive condition with a 25% recurrence risk in subsequent pregnancies.
- (A) The cerebral hemisphere is converted into a sac with markedly thinned out cortex. The surface is displaying congested vessels (arrow). (B) Small cerebellum for age indicating cerebellar atrophy (arrow). (C) Perivascular arrangement of undifferentiated neuroglial cell in cerebral cortex (H&E stain 10×; arrow). (D) Neuroglial cell nodules seen in cerebellum without proper layering (H&E stain 4×; arrow). (E) The cerebral cortex is thinned out and show foci of cortical layering (entire photomicrograph) (H&E stain 4×). (F) The meningocortical blood vessels are prominent (arrow) and (G) Ramifying the deeper cerebral cortex.(H&E stain 10×; arrow). H and E: Hematoxylin and eosin
Ethical approval:
Institutional Review Board approval is not required.
Declaration of patient consent:
The authors certify that they have obtained all appropriate patient consent forms. In the form, the patients have given their consent for their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Conflicts of interest:
There are no conflicts of interest.
Use of artificial intelligence (AI)-assisted technology for manuscript preparation:
The authors confirm that there was no use of artificial intelligence (AI)-assisted technology for assisting in the writing or editing of the manuscript and no images were manipulated using AI.
Financial support and sponsorship: Nil.