Acrania: report of the first surviving case

Area of Science:

• Medical Genetics
• Developmental Biology
• Pediatric Surgery

Background:

• Acrania is a rare and severe congenital anomaly characterized by the complete or partial absence of the calvarium.
• This condition is often associated with other life-threatening abnormalities, leading to a high rate of fetal or neonatal mortality.
• Survival is exceptionally rare, making each case a valuable contribution to understanding the condition.

Observation:

• A neonate presented with acrania, a complete absence of the skull vault but with an intact skull base.
• Prenatal imaging revealed fetal ventriculomegaly, hydrocephalus, and a wide encephalomeningocele.
• The infant had a partial occipital scalp defect with an underlying dural defect, requiring surgical repair.

Findings:

• The patient survived despite the severe congenital anomaly, undergoing surgical repair of scalp and dural defects.
• Hydrocephalus developed postnatally, necessitating the placement of a subduro-peritoneal shunt at three months of age.
• At three years of age, the patient demonstrated a severe developmental delay with a developmental quotient of 10.

Implications:

• This case highlights the possibility of survival in acrania, albeit with significant medical challenges and developmental deficits.
• It underscores the importance of comprehensive prenatal diagnosis and multidisciplinary postnatal management for such rare congenital conditions.
• Further research into the genetic and environmental factors contributing to acrania is warranted to improve outcomes and potential interventions.