Holoprosencephaly--report of two cases

Area of Science:

• Developmental Biology
• Medical Genetics
• Pediatric Neurology

Background:

• Holoprosencephaly (HPE) is a congenital disorder caused by the incomplete separation of the embryonic forebrain.
• It encompasses a spectrum of rare, complex conditions with diverse etiologies including chromosomal abnormalities, single gene defects, and teratogenic exposures.
• Understanding HPE's pathogenesis is crucial for diagnosis and management.

Observation:

• Two rare cases of alobar holoprosencephaly were observed.
• Both patients exhibited a rudimental nasal structure, specifically a proboscis, situated inferior to the eyes.
• These clinical features represent a severe phenotype within the HPE spectrum.

Findings:

• The reported cases demonstrate a severe form of alobar holoprosencephaly with unique facial anomalies.
• One infant survived for 9 months, while the other survived for 40 days, indicating extremely limited viability in these severe cases.
• The proboscis malformation is a rare but significant indicator of HPE severity.

Implications:

• These cases underscore the critical need for early diagnosis and genetic counseling in HPE.
• Further research into the genetic and environmental factors contributing to HPE is warranted.
• Improved understanding can lead to better supportive care strategies for affected infants and families.