Normal children with large heads--benign familial megalencephaly

Area of Science:

• Pediatrics
• Genetics
• Neurology

Background:

• Investigating children with large head circumference to differentiate from pathological causes.
• Assessing familial patterns of head size in pediatric populations.

Observation:

• Studied fifteen children with head circumference >0.5 cm above the 98th centile.
• Computed tomography (CT) scans excluded hydrocephalus in these children.
• Identified large head circumference in parents and siblings, suggesting a hereditary component.

Findings:

• Seven of ten infants had large head circumference at birth.
• Eight of thirteen infants exhibited excessive head growth rates.
• Skull X-rays revealed suture diastasis in seven infants.
• Eleven of thirteen families showed parental macrocephaly.
• Six of seventeen siblings also had large heads.

Implications:

• Benign familial megalencephaly is a non-pathological condition characterized by large head size.
• Early recognition of this benign condition can prevent unnecessary investigations and reduce parental anxiety.
• Distinguishing familial megalencephaly from hydrocephalus is crucial for appropriate clinical management.