Beyond The Empty Cranium: A Case of Hydranencephaly

ABSTRACT Hydranencephaly is a rare congenital post-neurulation disorder characterized by destruction of the cerebral hemispheres, which are replaced by cerebrospinal fluid within a membranous sac. [1] We report a 4-month-old male infant with features of developmental delay, macrocephaly, hypertelorism, hypertonia, and failure to thrive, subsequently diagnosed with hydranencephaly. Neuroimaging confirmed the absence of cerebral hemispheres with preservation of midline structures. This report emphasizes the clinical presentation, diagnostic challenges, and poor prognosis associated with this rare entity. Keywords: Hydranencephaly, Macrocephaly, Developmental delay, Infant, Neuroimaging

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Publication Details

Journal
Zenodo (CERN European Organization for Nuclear Research)
Published
2025-08-31
DOI
https://doi.org/10.5281/zenodo.17012404
Primary Topic
Geochemistry and Geologic Mapping
Type
article
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article

Beyond The Empty Cranium: A Case of Hydranencephaly

Zenodo (CERN European Organization for Nuclear Research)
Geochemistry and Geologic Mapping
article

Beyond The Empty Cranium: A Case of Hydranencephaly

article en

Abstract

ABSTRACT Hydranencephaly is a rare congenital post-neurulation disorder characterized by destruction of the cerebral hemispheres, which are replaced by cerebrospinal fluid within a membranous sac. [1] We report a 4-month-old male infant with features of developmental delay, macrocephaly, hypertelorism, hypertonia, and failure to thrive, subsequently diagnosed with hydranencephaly. Neuroimaging confirmed the absence of cerebral hemispheres with preservation of midline structures. This report emphasizes the clinical presentation, diagnostic challenges, and poor prognosis associated with this rare entity. Keywords: Hydranencephaly, Macrocephaly, Developmental delay, Infant, Neuroimaging

Zenodo (CERN European Organization for Nuclear Research)
Vikrama Simhapuri University (IN)
No poverty
Openalex Percentile: Top 59%
Geochemistry and Geologic Mapping
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