Torkamand Farbod, Ayati Aryan, Habibi Zohreh, Nejat Farideh
Department of Neurosurgery, Children's Medical Center, Tehran University of Medical Sciences, No 62, Qarib St., Keshavarz Blvd., Tehran, 1419733151, Iran.
Childs Nerv Syst. 2019 Sep;35(9):1629-1632. doi: 10.1007/s00381-019-04188-y. Epub 2019 May 28.
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.
先天性皮肤发育不全(ACC)是一种罕见的先天性疾病,可与多种其他异常相关联。然而,这种异常与头颅比例失调和脑膨出的关联鲜有报道。在本报告中,我们介绍了一名患有广泛先天性皮肤发育不全且硬脑膜和矢状窦外露的新生儿,该患儿随后出现脑从缺损处膨出以及类似尖头畸形的特征,在出生后的第一个月需要进行减压手术。本文讨论了该病例中尖头畸形特征和脑突出的病因及进展相关理论。