Semilobarholoprosencephaly - A Dreading Congenital Anomaly.
Bhushita B Lakhkar1, Bhushan N Lakhkar2, Bhavana B Lakhkar3
1Assistant Professor, Department of Radiology, Shri B M Patil Medical College, Hospital and Research Center, Bijapur, Karnataka, India.
Journal of Clinical and Diagnostic Research : JCDR
|August 3, 2017
Summary
Holoprosencephaly (HPE) is a brain malformation affecting midline development. This case highlights semilobar HPE with corpus callosal agenesis, a severe form impacting brain structure.
Area of Science:
- Neuroscience
- Developmental Biology
- Medical Genetics
Background:
- Holoprosencephaly (HPE) is a congenital brain anomaly resulting from incomplete forebrain division during embryonic development.
- It is a significant cause of mortality and morbidity in children, characterized by structural abnormalities.
- HPE is classified by De Myer into alobar, semilobar, and lobar types based on severity.
Observation:
- The case involves semilobar holoprosencephaly, a moderate form of the condition.
- Associated findings include microcephaly and midline facial anomalies.
- Specifically, corpus callosal agenesis was observed in conjunction with semilobar HPE.
Findings:
- The study presents a detailed case of semilobar holoprosencephaly.
- Corpus callosal agenesis was identified as a co-occurring anomaly.
- This combination underscores the spectrum of brain malformations in HPE.
Implications:
- Understanding HPE subtypes and associated anomalies is crucial for diagnosis and prognosis.
- This case contributes to the knowledge base of brain development disorders.
- Further research into HPE pathogenesis can inform potential therapeutic strategies.
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