SUMMARY
1. Cohen syndrome is an autosomal recessive multi-system disease characterized by the following clinical features:
- Developmental delay
- Failure to thrive during infancy
- Truncal obesity during the teen years
- Microcephaly
- Hypotonia
- Retinal dystrophy appearing by mid-childhood
- Progressive high myopia
- Characteristic facial features
- Neutropenia
2. The facial features of patients include thick hair and eyebrows, long eyelashes, down-slanting eyes, bulbous nasal tip, smooth philtrum, and prominent upper central teeth.
3. Patients may have leukopenia or neutropenia (mild to moderate). Severe invasive infections generally do not occur due to the neutropenia. However, patients may develop gingivitis, periodontitis, and skin infections.
4. Cohen syndrome is caused by mutations in the VPS13B (aka COH1) gene. The exact function of this gene product is not known.
OVERVIEW
Cohen syndrome is an autosomal recessive multi-system disease characterized by the following clinical features:
- Developmental delay
- Failure to thrive during infancy
- Truncal obesity during the teen years
- Microcephaly
- Hypotonia
- Retinal dystrophy appearing by mid-childhood
- Progressive high myopia
- Characteristic facial features
- Neutropenia
The facial features of patients include thick hair and eyebrows, long eyelashes, down-slanting eyes, bulbous nasal tip, smooth philtrum, and prominent upper central teeth.
Patients may have leukopenia or neutropenia (mild to moderate). Severe invasive infections generally do not occur due to the neutropenia. However, patients may develop gingivitis, periodontitis, and skin infections.
EVALUATION
Step 1: Gene Sequencing
- VPS13B (aka COH1) gene sequencing
- Genetic testing for Cohen syndrome is commercially available at a number of testing sites (ex. Gene Dx, Athena diagnostics).
MANAGEMENT
Patients may have leukopenia or neutropenia (mild to moderate). Severe invasive infections generally do not occur due to the neutropenia. However, patients may develop gingivitis, periodontitis, and skin infections. For patients with recurrent infections and significant neutropenia, treatment with G-CSF or prophylactic antibiotics may be considered.