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Cohen syndrome (also known as “Pepper syndrome” or “Cervenka syndrome”) is a pathological genetic disorder that causes hypotonia along with other clinical features such as mental retardation. and facial abnormalities.
1. What Causes Cohen's Syndrome?
Cohen syndrome is a recessive genetic disease caused by an abnormal mutation of the COH1 gene on chromosome 8. The primary function of the abnormal proteins produced by the COH1 gene is unknown, but the The researchers believe this gene may play an important role in the transport of proteins within cells. It remains unclear how the loss of VPS13B protein induces the pathological signs of Cohen syndrome.
Nguyên nhân gây ra hội chứng Cohen là do đột biến gen COH1 trên nhiễm sắc thể 8
2. Symptoms of Cohen's Syndrome
Common signs of Cohen syndrome are:
Low birth weight: Infants affected by Cohen syndrome often have a very low birth weight even when their parents are above average height and weight. jar. Hypotonia: This is a characteristic sign of Cohen syndrome. Hypotonia often causes strabismus secondary to weakening of the eye muscles causing nystagmus. Slow growth and development: After a while, parents will notice that the child has severe growth retardation, very weak muscle tone and difficulty in movement. Abnormalities shown in the craniofacial and facial features of the child: Small lower jaw, high arched palate, causing difficulty in swallowing. Thick eyebrows, thick hair, long eyelashes, small and slanted eyes, and a low and small nose bridge are also common signs of children with Cohen syndrome. Visual impairment: Children tend to be nearsighted or have severe visual impairment. It can be caused by retinitis caused by abnormal retinal pigments, which in some cases can lead to complete blindness. The patient's eye size was also abnormally small. Body stature, small bones: Children with this syndrome often have slow skeletal muscle development, their hands and feet are very narrow, and the joints tend to be overextended. Central Nervous System Disorders: Because mental development is affected, patients may develop a seizure disorder or a neurological hearing loss.
Suy giảm thị lực có thể là dấu hiệu của hội chứng Cohen
3. Measures to diagnose Cohen syndrome
The signs and symptoms described above are the most important factors in the diagnosis of Cohen syndrome. In addition, the diagnosis of Cohen syndrome should consider the differential diagnosis of many genetic disorders, including: Mental retardation associated with retinal dysfunction and obesity.
Methods to diagnose and identify Cohen syndrome include:
Molecular genetic analysis: This is an advanced analytical method mainly for research purposes. For a definitive diagnosis of Cohen syndrome, detailed karyotyping including FISH testing is recommended. Eye exam: Cohen syndrome can cause patients to lose peripheral vision, blurred vision, not clear. Assessment of obesity risk: There will often be signs of obesity concentrated in the trunk, quite different from other genetic disorders. Blood count test: If the result shows a low white blood cell count, it means that the patient is prone to frequent infections. Cardiac Function Evaluation: Electrocardiogram and echocardiography are indicated to evaluate cardiac function.
Xét nghiệm công thức máu cho phép chẩn đoán hội chứng Cohen
4. Measures to treat Cohen's syndrome
Currently, there is still no cure for Cohen syndrome. Basic palliative care focuses on managing symptoms and dealing with developmental delays in children caused by Cohen syndrome:
Children affected by Cohen syndrome need physical treatment therapy to gradually improve fine and gross motor function. Visual impairment is also one of the consequences of Cohen syndrome, so eye examinations and treatment are also suggested. Infections should be diagnosed early and treated appropriately with antiviral drugs or antibiotics. Heart problems need to be treated early. Vinmec International General Hospital is one of the hospitals that not only ensures professional quality with a team of leading doctors, modern equipment and technology, but also stands out for its examination and consulting services. and comprehensive, professional medical treatment; civilized, polite, safe and sterile medical examination and treatment space. Customers when choosing to perform tests here can be completely assured of the accuracy of test results.
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