Walker Harriet, Foster Alison, Cole Trevor, Jester Andrea
Hand and Upper Limb Service, Plastic and Reconstructive Surgery, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
West Midlands Regional Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.
JPRAS Open. 2020 Jul 27;25:83-87. doi: 10.1016/j.jpra.2020.07.001. eCollection 2020 Sep.
Carpal tunnel syndrome in a paediatric population is vanishingly rare and usually associated with lysosomal storage disorders such as mucopolysaccharidosis (MPS). Overgrowth syndromes similarly are rare and are characterised by increased skeletal growth alongside typical dysmorphic features and intellectual delay and as such the acronym OGID (overgrowth intellectual delay) is now widely used. Kosaki overgrowth syndrome (KOGS) is a newly recognised OGID with only 6 cases to date reported in the literature. Here we report a 7th case of KOGS with a new finding of carpal tunnel syndrome not previously described. We discuss similarities between the intraoperative findings during carpal tunnel decompression with findings seen in patients with MPS.
小儿人群中的腕管综合征极为罕见，通常与溶酶体贮积症如黏多糖贮积症（MPS）相关。过度生长综合征同样罕见，其特征是骨骼生长加速，同时伴有典型的畸形特征和智力发育迟缓，因此首字母缩写OGID（过度生长智力发育迟缓）现在被广泛使用。小崎过度生长综合征（KOGS）是一种新认识的OGID，迄今为止文献中仅报道了6例。在此，我们报告第7例KOGS，并发现了此前未描述的腕管综合征。我们讨论了腕管减压术中的发现与MPS患者的发现之间的相似性。
