幼儿精神运动发育落后伴中性粒细胞减少1年余

Psychomotor retardation with neutropenia for more than one year in a toddler

患儿,男,1岁5个月。婴儿期出现精神运动发育落后及外周血中性粒细胞减少,体格检查发现小头畸形、特殊面容、皮纹异常(右手通贯掌)、四肢肌张力低以及双侧肩、髋关节过度伸展。基因检测发现患儿VPS13B基因存在c.8868-1G>A(splicing)与c.11624_11625del(p.V3875Afs*10)复合杂合突变,具致病性,确诊为Cohen综合征。Cohen综合征是由VPS13B基因突变所致的罕见常染色体隐性遗传病,临床表现复杂多样,小头畸形、特殊面容、中性粒细胞减少、关节过度伸展等表现具有特征性,行VPS13B基因检测有助于确诊。

A boy was admitted at the age of 17 months. He had psychomotor retardation in early infancy. Physical examination revealed microcephalus, unusual facies, and a single palmar crease on his right hand, as well as muscle hypotonia in the extremities and hyperextension of the bilateral shoulder and hip joints. Genetic detection identified two pathogenic compound heterozygous mutations, c.8868-1 〉GA（splicing） and c.11624_11625 del（p.V3875 Afs＊10）, in the VPS13 B gene, and thus the boy was diagnosed with Cohen syndrome. Cohen syndrome is a rare autosomal recessive disorder caused by the VPS13 B gene mutations and has complex clinical manifestations. Its clinical features include microcephalus, unusual facies, neutropenia, and joint hyperextension. VPS13 B gene detection helps to make a confirmed diagnosis.