新生儿毛细血管畸形-动静脉畸形综合征表现为颅内血管畸形一例并文献复习

Neonatal capillary malformation-arteriovenous malformation syndrome manifested as intracranial vascular malformation:a case report and literature review

新生儿颅内血管畸形临床罕见,为毛细血管畸形-动静脉畸形(CM-AVM)综合征的表现形式之一,临床可表现为皮肤CM、肺动脉高压、心功能不全,甚至心力衰竭等,但新生儿期可无皮肤及神经系统典型表现,易被漏诊、误诊。作者报道了1例CM-AVM综合征患儿,并结合文献分析其临床表型和基因特点,提示对于新生儿早期出现不明原因心力衰竭或肺动脉高压怀疑该病的患儿,应详细询问家族史,并进行AVM和AVF筛查;对于明确存在CM-AVM综合征相关家族史者,建议进行详细的遗传咨询及产前或植入前诊断,必要时行基因检测。

Neonatal intracranial vascular malformation is a rare clinical disease.It is one of the manifestations of capillary malformation-arteriovenous malformation(CM-AVM)syndrome.It can be clinically manifested as skin capillary malformation,pulmonary hypertension,cardiac insufficiency and even heart failure.However,there can be no typical manifestations of skin and nervous system in neonatal period,which is easy to be missed and misdiagnosed.A case of CM-AVM syndrome was reported,and its clinical phenotype and genetic characteristics were analyzed combined with the literature.Therefore,for children with unexplained heart failure or pulmonary hypertension in the early stage of newborn,family history should be inquired in detail and AVM/AVF screening should be carried out.If with family history related to CM-AVM syndrome,it is recommended to carry out detailed genetic counseling and prenatal or pre-implantation diagnosis,and carry out gene testing when necessary.