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

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.

SUBMITTER: Zhang F

PROVIDER: S-EPMC7389942 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature

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

Zhang Fan F Shi Xiu-Yu XY Liu Li-Ying LY Liu Yu-Tian YT Zou Li-Ping LP

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 20180601 6

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 wit ...[more]

PMID: 29972126

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