Introduction:

cohen's syndrome is an autosomal recessive monogenic genetic disease, which originates from mutations in the VPS13B (COH1) gene. It is characterized by obesity, psychomotor retardation, microcephaly, hypotonia, progressive myopia, retinal dystrophy, intermittent neutropenia, and classic facial features.

Objective:

to present the second case reported in Colombia, which was confirmed by molecular study. A brief review of the most recent medical literature on this pathology is also presented.

Clinical case:

a 14-year-old adolescent with microcephaly, cognitive disorder, minor associated malformations, neutropenia, and obesity, with a homozygous VPS13B gene mutation.

Conclusion:

despite being a rare syndrome, with significant phenotypic variability, it should be suspected based on clinical criteria and associated pathologies.

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