Unidad de Dismorfología Y Metabolismo, Hospital Universitario Virgen del Rocío, Avda. Manuel Siurot, s/n, 41013, Seville, Spain.
Fundació Hospital Sant Joan de Deu, Esplugues/Clínica Teknon, Barcelona, Spain.
Orphanet J Rare Dis. 2021 Oct 22;16(1):445. doi: 10.1186/s13023-021-02063-1.
Mucopolysaccharidosis type VII (Sly syndrome) is an ultra-rare neurometabolic disorder caused by inherited deficiency of the lysosomal enzyme β-glucuronidase. Precise data regarding its epidemiology are scarce, but birth prevalence is estimated to vary from 0.02 to 0.24 per 100,000 live births. The clinical course and disease progression are widely heterogeneous, but most patients have been reported to show signs such as skeletal deformities or cognitive delay. Additionally, detection criteria are not standardized, resulting in delayed diagnosis and treatment.
We present a cohort of 9 patients with mucopolysaccharidosis VII diagnosed in the Iberian Peninsula, either in Spain or Portugal. The diagnostic approach, genetic studies, clinical features, evolution and treatment interventions were reviewed.
We found that skeletal deformities, hip dysplasia, hydrops fetalis, hepatosplenomegaly, hernias, coarse features, respiratory issues, and cognitive and growth delay were the most common features identified in the cohort. In general, patients with early diagnostic confirmation who received the appropriate treatment in a timely manner presented a more favorable clinical evolution.
This case series report helps to improve understanding of this ultra-rare disease and allows to establish criteria for clinical suspicion or diagnosis, recommendations, and future directions for better management of patients with Sly syndrome.
黏多糖贮积症 VII 型（Sly 综合征）是一种由溶酶体酶β-葡糖苷酸酶遗传性缺乏引起的超罕见神经代谢疾病。关于其流行病学的确切数据很少，但据估计，其出生率从每 10 万活产儿 0.02 到 0.24 不等。其临床过程和疾病进展广泛存在异质性，但大多数患者都有骨骼畸形或认知延迟等迹象。此外，检测标准尚未标准化，导致诊断和治疗延迟。
我们报告了在伊比利亚半岛（西班牙或葡萄牙）确诊的 9 例黏多糖贮积症 VII 型患者的队列。回顾了诊断方法、基因研究、临床特征、演变和治疗干预措施。
我们发现骨骼畸形、髋关节发育不良、胎儿水肿、肝脾肿大、疝气、粗糙面容、呼吸问题、认知和生长迟缓是该队列中最常见的特征。一般来说，早期诊断并及时接受适当治疗的患者具有更有利的临床转归。
本病例系列报告有助于加深对这种超罕见疾病的认识，并为临床怀疑或诊断、建议以及未来更好地管理 Sly 综合征患者的方向确立标准。
