Extensive aplasia cutis congenita associated with cephalocranial disproportion and brain extrusion

Childs Nerv Syst. 2019 Sep;35(9):1629-1632. doi: 10.1007/s00381-019-04188-y. Epub 2019 May 28.

Abstract

Aplasia cutis congenita (ACC) is a rare congenital disorder which can be linked with a variety of other abnormalities. However, the association of this anomaly with cephalocranial disproportion and brain extrusion is rarely reported. In this report, we present a neonate with an extensive ACC with exposed dura mater and sagittal sinus, who later presented with brain extrusion from the defect and an acrocephalic-like feature required decompressive surgery during the first month of life. Theories regarding etiology and progression of acrocephalic feature and brain protrusion in this case have been discussed.

Keywords: Aplasia cutis congenita; Cephalocranial disproportion; Intracranial hypertension; Sagittal sinus thrombosis.

Publication types

  • Case Reports

MeSH terms

  • Craniosynostoses / complications
  • Craniosynostoses / surgery*
  • Craniotomy*
  • Decompression, Surgical*
  • Dura Mater / surgery
  • Ectodermal Dysplasia / complications
  • Ectodermal Dysplasia / surgery*
  • Female
  • Humans
  • Infant, Newborn
  • Scalp / surgery
  • Skull / surgery*
  • Treatment Outcome