A rare variation of hydranencephaly: case report

Area of Science:

• Medical Imaging
• Neonatalogy
• Developmental Biology

Background:

• Hydranencephaly is a rare congenital abnormality where cerebral hemispheres are replaced by cerebrospinal fluid.
• Prenatal diagnosis of hydranencephaly is crucial for appropriate management and parental counseling.

Purpose of the Study:

• To report a rare variant of fetal hydranencephaly diagnosed prenatally.
• To highlight the importance of early diagnosis for specialized obstetric and neonatal care.

Main Methods:

• Ultrasonography at 38 weeks gestation to diagnose fetal hydranencephaly.
• Postnatal confirmation using computed tomography (CT).

Main Results:

• Ultrasonography revealed absence of cerebral cortex, thalami, and basal ganglia with disrupted falx.
• Preserved posterior fossa structures were noted.
• This is the first reported case of hydranencephaly with absent thalami and basal ganglia diagnosed prenatally.
• Postnatal CT confirmed the diagnosis.

Conclusions:

• Early prenatal diagnosis of this rare hydranencephaly variant is feasible.
• Prompt diagnosis facilitates specialized care at tertiary centers with pediatric facilities.
• Prenatal counseling and support are vital for affected families.