Macrocephaly diagnosed during well child visits

Pınar Yılmazbaş1,2, Gülbin Gökçay2, Tijen Eren2

  • 1Pediatrics Department, Health Science University Okmeydani Training and Research Hospital, Istanbul, Turkey.

Insights

Macrocephaly (MC), a larger-than-average head circumference, was diagnosed in 0.9% of children during well-child visits. Most cases were familial, highlighting the importance of parental head measurements for diagnosis.

Area of Science:

  • Pediatrics
  • Child Development
  • Medical Diagnostics

Background:

  • Head circumference (HC) measurement is crucial for monitoring child growth.
  • Limited research exists on macrocephaly (MC) characteristics identified during routine well-child visits.
  • This study addresses the gap by examining children diagnosed with MC in a clinical setting.

Purpose of the Study:

  • To determine the characteristics of children diagnosed with macrocephaly (MC) during well-child visits.
  • To investigate the prevalence and associated factors of MC in a pediatric population.
  • To inform diagnostic approaches for macrocephaly in early childhood.

Main Methods:

  • A descriptive clinical study reviewed health records of children aged 0-3 years from 2004-2014.
  • Included children diagnosed with macrocephaly (MC).
  • Evaluated cranial ultrasonography, parental HC measurements, and biochemical tests for all MC cases.

Main Results:

  • Macrocephaly (MC) was diagnosed in 90 out of 9,758 children (0.9%).
  • The majority of affected children (63.3%) had familial MC.
  • Hydrocephalus was noted in some cases, with two instances of delayed neuromotor development.

Conclusions:

  • Macrocephaly (MC) is not uncommon in well-child unit populations.
  • Evaluating parental head circumference (HC) and utilizing cranial ultrasonography are vital for differential diagnosis.
  • Early identification and characterization of MC are important for appropriate management.
Abstract