Bhattarai Khushi, Patel Marmik, Garcia Monica, Litra Florentina
Pediatrics, University of Florida, Pensacola, USA.
Pediatrics, Ascension Sacred Heart, Pensacola, USA.
Cureus. 2023 Dec 29;15(12):e51305. doi: 10.7759/cureus.51305. eCollection 2023 Dec.
The vein of Galen aneurysmal malformation (VGAM) is a rare congenital vascular malformation caused by the maldevelopment of its embryonic precursor, the median pros encephalic vein of Markowski. Although most of the VGAM cases are diagnosed in the neonatal period, sometimes it can also present during early childhood. It is very crucial to intervene immediately following the diagnosis because if left untreated, morbidity and mortality are imminent. The most common causes of morbidity and mortality are high-output congestive heart failure (most common neonatal presentation), hydrocephalus (most common presentation in infants), headache, and seizures. We are presenting the case of a two-year-old male with global developmental delay, failure to thrive, and macrocephaly who presented with recurrent generalized tonic-clonic seizures. MRI/magnetic resonance venography (MRV)/magnetic resonance angiography (MRA) brain showed an enlarged vein of Galen with venous hypertension and aqueduct stenosis. Treatment intervention included trans-arterial embolization of the right pericallosal, right/left lateral posterior, and medial posterior choroidal feeders with coils. The patient has had significant improvement in his neurocognitive functions including significant improvement in his speech/language development with outpatient therapies in between embolization.
大脑大静脉动脉瘤样畸形（VGAM）是一种罕见的先天性血管畸形，由其胚胎前体——马尔科夫斯基正中前脑静脉发育异常引起。虽然大多数VGAM病例在新生儿期被诊断出来，但有时也可能在幼儿期出现。诊断后立即进行干预至关重要，因为如果不治疗，发病和死亡将迫在眉睫。发病和死亡的最常见原因是高输出量充血性心力衰竭（最常见的新生儿表现）、脑积水（婴儿最常见的表现）、头痛和癫痫发作。我们报告了一例两岁男性病例，该患儿有全面发育迟缓、生长发育不良和巨头畸形，并出现反复全身性强直阵挛发作。脑部MRI/磁共振静脉造影（MRV）/磁共振血管造影（MRA）显示大脑大静脉扩大，伴有静脉高压和导水管狭窄。治疗干预包括用弹簧圈经动脉栓塞右侧胼周、右侧/左侧外侧后和内侧后脉络膜供血动脉。该患者的神经认知功能有了显著改善，包括在栓塞期间通过门诊治疗，其语言发育有了显著改善。
