Gould综合征是一种常染色体显性综合征,由COL4A1或COL4A2突变引起,通常以家族性脑孔畸形为特征。癫痫发作,颅内出血,白内障,肾病和更多。根据文献综述,已经确定了多达137名患者。在这种情况下,我们描述了一个出现偏瘫的男婴,在他的健康儿童检查中,发育迟缓和步态异常。转诊至神经科和随后的MRI显示头颅和眼晶状体异常。基因测序发现了COL4A1基因突变,提示古尔德综合征.没有家族成员具有相似的表型。COL4A1和COL4A2基因的突变导致大多数基底膜中发现的胶原蛋白的破坏。导致多种表型,使诊断变得困难。这些患者的遗传鉴定至关重要,因为这些患者需要多学科方法来护理和降低风险技术的特定咨询。
Gould syndrome is an autosomal dominant syndrome due to a COL4A1 or COL4A2 mutation that is commonly characterised by familial porencephaly, seizures, intracranial haemorrhages, cataracts, nephropathies and more. There have been up to 137 identified patients based on a review of the literature. In this case, we describe a male infant that presents with hemiparesis, developmental delay and gait abnormalities at his well-child check. Referral to neurology and a subsequent MRI demonstrated porencephaly and ocular lens abnormalities. Genetic sequencing uncovered a mutation to the COL4A1 gene, suggesting Gould syndrome. There are no family members with similar phenotypes. Mutations to the COL4A1 and COL4A2 genes result in disruption of collagen found in most basement membranes, resulting in a variety of phenotypes that can make diagnosis difficult. Genetic identification of these patients is critical as these patients require a multidisciplinary approach to care and specific counselling on risk reduction techniques.