[Commissural agenesis associated with inter hemispheric cyst]

Area of Science:

• Neuroscience
• Developmental Biology
• Pediatric Neurology

Background:

• Congenital brain malformations present diagnostic and therapeutic challenges.
• Understanding the embryological basis of rare central nervous system (CNS) anomalies is crucial for clinical management.

Observation:

• A rare case of an eight-month-old female infant presenting with seizures, vomiting, and psychomotor delay.
• Clinical examination revealed a vertex tumefaction; imaging demonstrated an encephalocystocele with dilated ventricles and a midline cystic formation.

Findings:

• Computed tomography (CT) revealed a single ventricle with a significant posterior and superior extension, suggestive of a midline cystic formation.
• This cystic formation implies agenesis of diencephalic and telencephalic structures, particularly commissural agenesis.

Implications:

• This case underscores the rarity and complexity of certain brain malformations.
• The potential for antenatal diagnosis and the etiological discussions arising from this case are significant for the field.