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Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation.
BMC Medical Genetics Pub Date : 2020-02-19 , DOI: 10.1186/s12881-020-0972-y
Rachel Sayuri Honjo 1 , Evelyn Cristina Nuñez Vaca 1 , Gabriela Nunes Leal 2 , Deipara Monteiro Abellan 3 , Nana Miura Ikari 4 , Marcelo Biscegli Jatene 5 , Ana Maria Martins 6 , Chong Ae Kim 1
Affiliation  

BACKGROUND The Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome (OMIM 253200) is an autosomal recessive lysosomal disorder, caused by the deficiency of the enzyme N-acetylgalactosamine 4-sulfatase (also known as arylsulfatase B) due to mutations of the ARSB gene. Cardiologic features are well recognized, and are always present in MPS VI patients. Generally, the onset and the progression of the cardiologic symptoms are insidious, and just a few patients have developed a rapidly progressive disease. Cardiac involvement in MPS VI is a common and progressive feature. For MPS patients, cardiac evaluations are recommended every 1 to 2 years, including blood pressure measurement, electrocardiography and echocardiography. However, congestive heart failure and valvular surgical repair are not frequently seen, and if so, they are performed in adults. Here we report on an atypical MPS VI case with ascites fetalis and a rapidly progressive cardiac disease. CASE PRESENTATION A 6-month-old Brazilian male, only child of a Brazilian healthy non-consanguineous couple. During pregnancy, second trimester ultrasonography observed fetal ascites and bilateral hydrocele. Physical exam at 6 months-old revealed a typical gibbus deformity and MPS was suspected. Biochemical investigation revealed a diagnosis of MPS type VI, confirmed by molecular test. Baseline echocardiogram revealed discrete tricuspid regurgitation and a thickened mitral valve with posterior leaflet prolapse, causing moderate to severe regurgitation. The patient evolved with mitral insufficiency and congestive heart failure, eventually requiring surgical repair by the first year of age. CONCLUSIONS We report the first case of MPS VI whose manifestations started in the prenatal period with fetal ascites, with severe cardiac valvular disease that eventually required early surgical repair. Moreover, in MPS with neonatal presentation, including fetal hydrops, besides MPS I, IVA and VII, clinicians should include MPS VI in the differential diagnosis.

中文翻译:

VI型粘多糖贮积病:首次出现胎儿腹水并迅速进展心脏表现的病例报告。

背景技术VI型粘多糖贮积病(MPS VI),也称为Maroteaux-Lamy综合征(OMIM 253200)是一种常染色体隐性溶酶体疾病,由N-乙酰半乳糖胺4-硫酸酯酶(也称为芳基硫酸酯酶B)的缺乏引起。 ARSB基因的突变。心脏功能已得到公认,并且在MPS VI患者中始终存在。通常,心脏病症状的发作和进展是隐性的,并且仅有少数患者发展为快速进行性疾病。心脏参与MPS VI是一项常见且渐进的功能。对于MPS患者,建议每1-2年进行一次心脏评估,包括血压测量,心电图和超声心动图。但是,充血性心力衰竭和瓣膜手术修复并不常见,如果这样,他们在成人中表演。在这里,我们报道了一个非典型的MPS VI胎儿腹水和快速进展的心脏病。病例介绍一名6个月大的巴西男性,是巴西健康的非近亲夫妇的独生子。在怀孕期间,孕中期超声检查观察到胎儿腹水和双侧鞘膜积液。6个月大时进行的身体检查显示出典型的吉布斯畸形,怀疑患有MPS。生化研究表明,经分子测试证实诊断为MPS VI型。基线超声心动图显示不连续的三尖瓣关闭不全和二尖瓣增厚,并伴有小叶后脱垂,引起中度至重度关闭不全。患者发展为二尖瓣关闭不全和充血性心力衰竭,最终需要在第一岁时进行手术修复。结论我们报告了第一例MPS VI,其表现始于胎儿腹水的产前期,伴有严重的心脏瓣膜疾病,最终需要早期手术修复。此外,在包括胎儿积液在内的具有新生儿表现的MPS中,除MPS I,IVA和VII外,临床医生还应在诊断中包括MPS VI。
更新日期:2020-04-22
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