Extensive aplasia cutis congenita associated with cephalocranial disproportion and brain extrusion

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.