[Holotelencephaly: description of a case]

Area of Science:

• Neuroscience
• Developmental Biology
• Clinical Genetics

Background:

• Prosencephalization defects represent a spectrum of congenital brain malformations.
• Holotelencephalies are characterized by severe anomalies in forebrain development and associated facial dysmorphisms.
• Understanding the ethiopathogenesis of these defects is crucial for diagnosis and management.

Observation:

• A six-month-old female infant presented with severe cerebral anomalies and facial abnormalities.
• The patient has been under observation since birth, allowing for detailed monitoring of development.
• Clinical presentation aligns with the diagnostic criteria for Holotelencephalies.

Findings:

• The observed malformation falls within the Holotelencephalies group, indicating a significant disruption of embryonic forebrain development.
• Analysis of ethiopathogenetic factors suggests potential embryonic damage contributing to the observed SNC malformation.
• Literature review provides context for the clinical characteristics, evolution, and prognosis of similar cases.

Implications:

• This case contributes to the understanding of rare Holotelencephalies and prosencephalization defects.
• Further research into the ethiopathogenesis of such embryonic damage is warranted.
• Improved characterization of clinical features and prognosis can aid in patient counseling and management strategies.