The following is a summary of “Early Diagnostic Signs and the Natural History of Typical Findings in Cohen Syndrometle,” published in the JANUARY 2023 issue of Pediatrics by Güneş, et al.

For a study, researchers sought to outline the long-term clinical characteristics and clinical presentation of a cohort with Cohen syndrome that has undergone molecular confirmation.

Twelve Cohen syndrome patients, aged between 0.2-13.9 years, from eight households, and with a median follow-up of 7 years, were included in the study. VPS13B and whole-exome sequencing analysis were performed on the genetic data.

Biallelic VPS13B variations were found, including a multiexon deletion, three nonsense variants, one frameshift variant, and one splice site variant. All infantile patients exhibited characteristics resembling Prader-Willi syndrome, including hypotonia, small hands, a round face with large cheeks, almond-shaped eyes, and micrognathia. The face started to gradually lengthen and become oval at the age of 4 years. By the age of nine, the classic facial characteristics of Cohen syndrome, including a long face, a beak-shaped nose, and an open mouth with prominent upper central incisors, became visible. At the median ages of 7.8, 7, and 7.5 years, myopia (5/11), truncal obesity (5/12), neutropenia (11/11), and retinopathy (11/11) were among the additional Cohen syndrome symptoms that were identified. At their latest examination, eleven patients older than five years exhibited severe speech delays.

Cohen syndrome should be diagnosed differently from Prader-Willi syndrome in infants, and at age 9 years old, when retinopathy, neutropenia, and truncal obesity become obvious, the usual facial features for Cohen syndrome are most noticeable. The considerable speech delay should also be taken into consideration while determining the diagnostic criteria.

Reference: jpeds.com/article/S0022-3476(22)00788-0/fulltext