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Cohen syndrome: the clinical symptoms and stigmata at a young age
J P Fryns1, E Legius, K Devriendt
1Centre for Human Genetics, University of Leuven, Belgium.
Insights
Cohen syndrome presents with hypotonia, microcephaly, and neutropenia in infancy. Early myopia correction significantly improved psychomotor development in affected children.
Area of Science:
- Genetics and Developmental Pediatrics
- Rare Genetic Disorders
- Clinical Case Studies
Background:
- Cohen syndrome is a rare genetic disorder with complex clinical manifestations.
- Early diagnosis and intervention are crucial for managing developmental challenges.
Observation:
- Four female patients (two sisters, two dizygotic twins) with Cohen syndrome were studied.
- Key early findings included low-normal birth growth, hypotonia, progressive microcephaly, and neutropenia.
- Ocular anomalies (high-grade myopia, chorioretinal dystrophy) and autistic behavior with psychomotor retardation were noted by age two.
Findings:
- Correction of high-grade myopia led to significant psychomotor development catch-up.
- Facial stigmata, including a short philtrum and broad upper incisors, became more apparent after age six.
- Later findings included truncular obesity, hypotonia, and poor muscle development between ages six and eight.
Implications:
- This study highlights the diagnostic challenges of Cohen syndrome in infancy.
- Timely identification and management of ocular issues may positively impact neurodevelopmental outcomes.
- Understanding the progressive nature of Cohen syndrome is vital for long-term patient care.
Abstract:
We present the clinical findings and follow-up data of four female children with Cohen syndrome, two sisters and one pair of dizygotic female twins. The most characteristic findings from birth on were as follows: 1. Low-normal growth parameters at birth. 2. Mild hypotonia and evidence of progressive microcephaly with narrow forehead in the first year of life. 3. Neutropenia was present from the beginning, remained unchanged over the years and is not associated with higher susceptibility to infections. 4. Autistic behavior and severe psychomotor retardation up to the age of 2 years. At that age the ocular anomalies with high-grade myopia and chorioretinal dystrophy were diagnosed. Correction of the myopia resulted in a marked catch-up in psychomotor development. 5. After the age of 6 years facial stigmata became more evident with short philtrum of the upper lip and broad and large upper incisors. 6. Tendency to truncular obesity with rest hypotonia and poor muscle development after the ages of 6 to 8 years. The clinical findings and follow-up data in the present four children with Cohen syndrome illustrate that the diagnosis of Cohen syndrome in infancy is very difficult.