Cohen Syndrome is characterized by a heterogeneous clinical picture, including hypotonia, neurodevelopmental disability, ocular anomalies, and neutropenia. While neutropenia is a frequent occurrence in Cohen Syndrome, the clinical description of patients with this symptom and the documentation of infectious episodes are often lacking. A recent case report sheds light on this aspect of the disease by describing a patient with a novel VPS13B variant and autoimmune neutropenia.
The 7-year-old boy was evaluated for intermittent neutropenia and diagnosed with autoimmune neutropenia at the age of eighteen months due to the detection of anti-neutrophil antibodies. He also exhibited other classic features of Cohen Syndrome, including microcephaly, developmental delay, progressive severe myopia, retinal dystrophy, and distinctive craniofacial features.
Genetic testing revealed a maternally inherited novel splicing variant (c.7854+1G > T) and a paternally inherited microduplication involving exons 32-33 of the VPS13B gene. Both variants were classified as pathogenic. The immunological evaluation showed persistent moderate neutropenia and an inverted CD4:CD8 ratio, highlighting the immune dysregulation associated with the syndrome.
This case report expands the clinical phenotype of Cohen Syndrome by documenting the occurrence of autoimmune neutropenia and emphasizing the need for immunological monitoring in affected individuals. It also underscores the importance of comprehensive genetic testing to identify novel variants and confirm the diagnosis in patients with complex clinical presentations.
Medical Disclaimer: This information is for educational purposes only and does not constitute medical advice. Genetic testing and clinical management should be performed by qualified healthcare professionals.