Abstract：
BACKGROUND: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome is a rare autosomal dominant disorder characterized by megalencephaly (i.e., overgrowth of the brain), polymicrogyria, focal hypoplasia of the cerebral cortex, and polydactyly. Persistent hyperplastic primary vitreous (PHPV) involves a spectrum of congenital ocular abnormalities that are characterized by the presence of a vascular membrane behind the lens.
METHODS: Here, we present a case of foetal MPPH with PHPV that was diagnosed using prenatal ultrasound. Ultrasound revealed the presence of megalencephaly, multiple cerebellar gyri, and hydrocephalus. Whole-exome sequencing confirmed the mutation of the AKT3 gene, which led to the consideration of MPPH syndrome. Moreover, an echogenic band with an irregular surface was observed between the lens and the posterior wall of the left eye; therefore, MPPH with PHPV was suspected.
CONCLUSIONS: MPPH syndrome with PHPV can be diagnosed prenatally.
METHODS: Here, we present a case of foetal MPPH with PHPV that was diagnosed using prenatal ultrasound. Ultrasound revealed the presence of megalencephaly, multiple cerebellar gyri, and hydrocephalus. Whole-exome sequencing confirmed the mutation of the AKT3 gene, which led to the consideration of MPPH syndrome. Moreover, an echogenic band with an irregular surface was observed between the lens and the posterior wall of the left eye; therefore, MPPH with PHPV was suspected.
CONCLUSIONS: MPPH syndrome with PHPV can be diagnosed prenatally.
摘要：
背景：巨脑症-多趾-脑积水（MPPH）综合征是一种罕见的常染色体显性疾病，以巨脑症（即脑过度生长）为特征，大脑皮层和多指的多囊和局灶性发育不全。持续性增生性原发性玻璃体（PHPV）涉及一系列先天性眼部异常，其特征在于晶状体后面存在血管膜。
方法：这里，我们介绍了一例使用产前超声诊断的胎儿MPPH伴PHPV的病例。超声波显示巨脑症的存在，多发性小脑回和脑积水。全外显子组测序证实了AKT3基因的突变，这导致了对MPPH综合征的考虑。此外，在晶状体和左眼后壁之间观察到不规则表面的回声带；因此，怀疑有PHPV的MPPH。
结论：MPPH综合征伴PHPV可在产前诊断。
方法：这里，我们介绍了一例使用产前超声诊断的胎儿MPPH伴PHPV的病例。超声波显示巨脑症的存在，多发性小脑回和脑积水。全外显子组测序证实了AKT3基因的突变，这导致了对MPPH综合征的考虑。此外，在晶状体和左眼后壁之间观察到不规则表面的回声带；因此，怀疑有PHPV的MPPH。
结论：MPPH综合征伴PHPV可在产前诊断。
