Normal children with large heads--benign familial megalencephaly.

Abstract

SUMMARY Fifteen normal children with large heads (circumference >0.5 cm above the 98th centile) were studied. CAT scans were performed to exclude hydrocephalus, and ventricular size was compared with that of hydrocephalic children. In 11 of the 13 families in which the parents' heads were measured, one parent (10 fathers and one mother) was found to have a large head, as had 6 of 17 siblings. Head circumference at birth was large in 7 of 10 babies and rate of head growth was excessive in 8 of 13. Skull x-ray showed suture diastasis in 7 infants. These families have a benign familial megalencephaly. It is important to recognise this so as to avoid unnecessary investigation and anxiety about normal children with large heads.

Macrocephaly diagnosed during well child visits

“…In the present study, the majority of FM children had fathers with a large head. This is similar to the data in the literature . A total of 61% of the present patients were male.…”

“…In one study that was carried out in a tertiary center in Iran, 72% of 90 children with MC were male . In another study from a neurosurgery department, 67% of the children with MC were male, and 73% of the macrocephalic children were male in the Day and Schutt study, which was the first to define FM . According to these and the present study, there appears to be a male preponderance for MC …”

Fifteen-minute consultation on the infant with a large head

“…Usually, it is due to benign isolated macrocephaly or familial macrocephaly (FM) where some close family members are similarly affected1; neither condition requires any further intervention. However, there are a few important underlying causes the clinician needs to actively consider and investigate when indicated before reassuring parents.…”

Discrete-choice preference comparison between patients and doctors for the surgical management of oesophagogastric cancer (Br J Surg DOI: 10.1002/bjs.7537)

“…Studies regarding the neurodevelopmental and neuropsychological profile of patients with macrocephaly show contradictory results, ranging from normal cognitive and motor functioning to substantial neuropsychological disabilities2, 7, 8, 17–23. Furthermore, none of these studies has examined the implications of prenatal macrocephaly.…”