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Holoprosencephaly manifesting with fusion of the gyri cinguli
1Department of Radiology, Ege University Hospital, Bornova, Izmir, Turkey.
Insights
This study describes a rare case of lobar holoprosencephaly in a 7-month-old boy, highlighting a unique midline interhemispheric fusion. The findings contribute to understanding variations in brain development anomalies.
Area of Science:
- Neuroscience
- Developmental Biology
- Medical Genetics
Background:
- Holoprosencephaly (HPE) is a spectrum of congenital brain malformations characterized by incomplete separation of the forebrain.
- Midline interhemispheric fusion is a rare anomaly associated with HPE and callosal dysgenesis.
- Understanding variations in HPE is crucial for diagnosis and management.
Observation:
- A 7-month-old boy presented with lobar holoprosencephaly.
- Midline interhemispheric fusion was observed between thickened gyri cinguli in the middle frontal region.
- The corpus callosum was thinned yet intact, differing from previously reported cases.
Findings:
- The patient exhibited a variation of HPE with midline interhemispheric fusion and atypical callosal dysgenesis.
- Diffuse cortical dysplasia was also noted.
- This case presents a unique combination of brain malformations.
Implications:
- This case expands the known spectrum of holoprosencephaly variations.
- It offers insights into the complex mechanisms of forebrain development and malformation.
- Further research into midline fusion anomalies can improve diagnostic accuracy and understanding of HPE.
Abstract:
In this paper we report a 7-month-old boy with lobar holoprosencephaly in whom midline interhemispheric fusion occurred between thickened gyri cinguli of both hemispheres at the middle frontal region. This anomaly appears to be a variation of a recently recognized type of holoprosencephaly associated with midline interhemispheric fusion and atypical callosal dysgenesis. In contrast to the previously reported a few cases, in our patient the corpus callosum was thinned but intact. In addition, the condition was associated with diffuse cortical dysplasia. The malformations in this patient is of interest because it contributes to our understanding of variations of holoprosencephaly.