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An atretic parietal cephalocele associated with multiple intracranial and eye anomalies
1Hacettepe University Hospital, Department of Radiology, Ankara, Turkey.
Neuroradiology
|January 7, 1999
Insights
This study details cranial MRI findings in an infant with an atretic parietal cephalocele. The case highlights complex brain and eye abnormalities, including holoprosencephaly and Dandy-Walker malformation.
Area of Science:
- Neuroimaging
- Developmental Biology
- Pediatric Neurology
Background:
- Cephaloceles are congenital neural tube defects.
- Parietal encephaloceles are rare, particularly atretic forms.
- Complex congenital anomalies often involve multiple brain structures.
Observation:
- Cranial MRI was performed on a 4-month-old female infant.
- The infant presented with an atretic parietal cephalocele.
- Associated anomalies included lobar holoprosencephaly, Dandy-Walker malformation, and agenesis of the corpus callosum.
Findings:
- Grey-matter heterotopia and extra-axial cysts were identified.
- Ocular findings included bilateral microphthalmia and a retroocular cyst.
- The constellation of anomalies suggests a severe disruption of early brain development.
Implications:
- Understanding these complex malformations aids in diagnosis and management.
- This case contributes to the spectrum of known cephalocele-associated anomalies.
- Further research into the genetic and developmental pathways is warranted.
Abstract:
We present the cranial MRI findings in a 4-month-old girl with an atretic parietal cephalocele associated with multiple cerebral and ocular anomalies including lobar holoprosencephaly, a Dandy-Walker malformation, agenesis of the corpus callosum, grey-matter heterotopia, extra-axial cysts in various locations, bilateral microphthalmia and a retroocular cyst.