Neurodevelopmental outcome of children born with an isolated atretic cephalocele

Childs Nerv Syst. 2021 Apr;37(4):1295-1300. doi: 10.1007/s00381-020-04997-6. Epub 2021 Jan 6.


Purpose: The existing data on the neurodevelopmental outcome of children born with an isolated atretic cephalocele (IAC) are scant. We aimed to expand upon these data by describing our experience with affected children, as well as assist parents and clinicians in deciding how to proceed when an IAC is diagnosed prenatally.

Methods: A follow-up study was conducted on nine children who were born with an IAC. Evaluations were performed by pediatric neurologists and child development specialists. Developmental outcomes were based on a global development evaluation that assessed gross and fine motor skills, receptive and expressive language levels, activities of daily living, communication skills, and social domains. Adaptive skills were estimated by the Adaptive Behavior Assessment System, Second Edition.

Results: None of the nine children (median age 4 years and 6 months) had abnormal findings on neurological examination. Six children had age-appropriate developmental milestones, two had a mild motor delay, and one had mild expressive language delay (catchup was achieved by all of the latter three by ~ 3.5 years of age). The mean general adaptive composite score was 105 ± 11.7 (normal = 100). None of the children had behavioral, social, or communication problems.

Conclusions: Children diagnosed with an IAC with/without a falcine sinus and devoid of coexisting intracranial abnormalities seem to have a normal neurodevelopmental outcome. Continuation of pregnancy may be recommended when an IAC is detected prenatally, and reassurance if detected postnatally.

Keywords: Atretic cephalocele; Children; Development; Prenatal; Prognosis.

MeSH terms

  • Activities of Daily Living*
  • Child
  • Child Development
  • Child, Preschool
  • Encephalocele*
  • Female
  • Follow-Up Studies
  • Humans
  • Neurologic Examination
  • Pregnancy