Psychomotor retardation with neutropenia for more than one year in a toddler.
- Author:
Fan ZHANG
1
;
Xiu-Yu SHI
;
Li-Ying LIU
;
Yu-Tian LIU
;
Li-Ping ZOU
Author Information
1. Department of Pediatrics, Chinese People's Liberation Army General Hospital, Beijing 100853, China. zouliping21@sina.com.
- Publication Type:Case Reports
- MeSH:
Base Sequence;
Developmental Disabilities;
diagnosis;
genetics;
Fingers;
abnormalities;
Humans;
Infant;
Intellectual Disability;
diagnosis;
genetics;
Male;
Microcephaly;
diagnosis;
genetics;
Muscle Hypotonia;
diagnosis;
genetics;
Mutation;
Myopia;
diagnosis;
genetics;
Neutropenia;
complications;
genetics;
psychology;
Obesity;
diagnosis;
genetics;
Psychomotor Disorders;
diagnosis;
etiology;
genetics;
Retinal Degeneration;
diagnosis;
genetics;
Vesicular Transport Proteins;
genetics
- From:
Chinese Journal of Contemporary Pediatrics
2018;20(6):497-500
- CountryChina
- Language:Chinese
-
Abstract:
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.8868-1G>A (splicing) and c.11624_11625del (p.V3875Afs*10), in the VPS13B gene, and thus the boy was diagnosed with Cohen syndrome. Cohen syndrome is a rare autosomal recessive disorder caused by the VPS13B gene mutations and has complex clinical manifestations. Its clinical features include microcephalus, unusual facies, neutropenia, and joint hyperextension. VPS13B gene detection helps to make a confirmed diagnosis.
