Acalvaria: the first case report from Nepal.

Area of Science:

• Medical Genetics
• Developmental Biology
• Pediatric Neurology

Background:

• Acalvaria is an extremely rare congenital anomaly characterized by the absence of cranial vault bones, dura mater, and associated muscles.
• The central nervous system typically remains unaffected in cases of acalvaria.
• This condition represents a post-neurulation defect, often associated with other organ system anomalies.

Purpose of the Study:

• To report a case of acalvaria in a 2-month-old infant.
• To highlight the diagnostic process and differential diagnoses for acalvaria.
• To emphasize the importance of early antenatal diagnosis for acalvaria.

Main Methods:

• Case presentation of a 2-month-old male infant with acalvaria.
• Clinical evaluation including physical examination and investigations.
• Exclusion of differential diagnoses such as anencephaly, cephalocele, osteogenesis imperfecta type II, and hypophosphatasia.

Main Results:

• The infant presented with an abnormally soft skull due to bilateral parietal bone absence.
• No other congenital abnormalities were detected in the infant.
• Acalvaria was diagnosed after ruling out other major differential diagnoses.

Conclusions:

• Acalvaria has a generally poor prognosis, with affected individuals often experiencing significant intellectual and physical disabilities.
• Reliable antenatal diagnosis is essential for managing the significant burdens associated with this condition.
• Emphasis on early diagnosis is particularly important in low-income countries to mitigate socioeconomic and psychological impacts.