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Published on: June 21, 2017
[Psychomotor retardation with neutropenia for more than one year in a toddler]
Fan Zhang1, Xiu-Yu Shi, Li-Ying Liu
1Department of Pediatrics, Chinese People's Liberation Army General Hospital, Beijing 100853, China. zouliping21@sina.com.
Insights
A genetic analysis identified compound heterozygous mutations in the VPS13B gene, leading to a diagnosis of Cohen syndrome in a boy with developmental delays and distinct physical features. This finding highlights the importance of genetic testing for this rare disorder.
Area of Science:
- Genetics
- Pediatrics
- Rare Diseases
Background:
- Cohen syndrome is a rare autosomal recessive genetic disorder.
- It is characterized by complex clinical manifestations including microcephaly, distinctive facial features, neutropenia, and joint hyperextension.
Observation:
- A 17-month-old boy presented with psychomotor retardation, microcephaly, unusual facies, single palmar crease, muscle hypotonia, and joint hyperextension.
- Physical examination findings were consistent with a potential genetic syndrome.
Findings:
- Genetic testing revealed two pathogenic compound heterozygous mutations (c.8868-1G>A and c.11624_11625del) in the VPS13B gene.
- These mutations confirmed the diagnosis of Cohen syndrome.
Implications:
- VPS13B gene mutation analysis is crucial for diagnosing Cohen syndrome.
- Early and accurate diagnosis facilitates appropriate management and genetic counseling for affected families.
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.
