Introduction
Cohen syndrome is characterized by diminished infant muscle tone, decreased head size, abnormality of face and hands, mental retardation, obesity, variable facial features, eye and neural tissue disorders that impair vision. Michael Cohen Jr first narrated Cohen syndrome, then Carey et al. found the same features described by Cohen earlier and later identified the most prominent feature, that is, neutropenia.
Cohen syndrome remains a difficult diagnostic problem, particularly in young children. There are not many unnerving accurate diagnoses. A cohort study (a group of people who share almost the same character) of Cohen syndrome patients from outside Finland could help determine the applicability of their clinical phenotypic criteria to non-Finnish patients. This could give more clarity on the occurrence of this syndrome in various ethnicities.
What Causes Cohen Syndrome?
Alterations in the COH1 gene (a human protein) cause the Cohen syndrome. This gene is present on chromosome number 8. Generally, genes impart instructions for generating proteins that play an essential role in various body functions. When there is a gene alteration, the protein product becomes faulty and ineffective. Depending upon the structure and parts of a particular protein, this can affect many organ systems.
Most genetic diseases are determined by the two copies of a gene, one received from the father and one from the mother. However, alterations in Cohen syndrome are inherited autosomal recessive. If any individual inherits one normal gene with another altered gene for the disease, the person will be a carrier of the illness but may be asymptomatic. In most individuals, Cohen syndrome has been diagnosed and confirmed by molecular genetic testing.
What Are the Common Signs and Symptoms?
The signs and symptoms of Cohen syndrome may vary from one person to another. But according to some studies, many people with this syndrome have similar facial features such as eyelashes, eyebrows, and nasal tips.
The signs and symptoms of Cohen syndrome are classified as-
A) Growth and Development:
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In infants, lack of growth and weight gain can be observed.
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Microcephaly.
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Intellectual disability.
B) Eyes:
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Eye disorders that affect the retina, which progresses to cause vision loss like retinal dystrophy and myopia.
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Palpebral fissures between the eyelids.
C) Musculo-skeletal:
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Craniofacial deformities.
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Hyperextensibility of joints.
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Small or narrow hands and feet.
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Short stature.
D) Blood:
E) Endocrine:
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Obesity appearing in mid-childhood.
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Delayed onset of puberty.
F) Neurological
Many new clinical features have been identified for Cohen syndrome during the studies. A high-pitched voice was a constant finding, even in patients with no previous laryngeal problems. Stridor followed by laryngomalacia (softening of the larynx tissues) was common in infancy, along with vocal cord paralysis. Upper airway problems were often severe and even life-threatening.
Other Symptoms:
Dental problems can manifest as-
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Periodontal problems.
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Some individuals may develop aphthous ulcers and inflammation or infection of the gums.
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Hypoplasia of tongue.
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Upper respiratory tract infections due to neutropenia.
How Common Is Cohen Syndrome?
It is a rare condition, about 200 cases have been reported to date. It is primarily seen in the Finnish population (relating to Finland). Cohen syndrome affects men and women equally. It also appears in Amish (relating to Mennonite churches), Greek, and Irish forebears. More than an estimated 500 to 1000 individuals are diagnosed with this disorder worldwide.
An affected individual has a 50% possibility of being an asymptomatic carrier and a 25 % possibility of being unaffected and not a carrier. The children of an individual with Cohen syndrome become a definite carrier. However, Cohen syndrome often goes undiagnosed or mostly misdiagnosed, making it challenging to decide the proper frequency of the condition in the general population.
How Can Cohen Syndrome Be Diagnosed?
The diagnosis of Cohen syndrome is based on clinical findings, but no agreeable diagnostic criteria exist. Genetic testing is available for the COH1 gene. Targeted analysis for pathogenic variants can be performed first in a few distinct ethnic origins. A multigene panel can also be performed along with other genes of interest. It is still tricky to detect the gene mutations as this rate differs by ethnicity.
What Is the Differential Diagnosis to This?
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Prader Willi syndrome (PWS).
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Angelman syndrome (AS).
Other genetic disorders can have signs and symptoms similar to Cohen syndrome. These disorders include Alstrom syndrome, Williams syndrome, and hypothyroidism.
How Should Cohen Syndrome Be Managed?
The treatment of Cohen syndrome depends mainly on the symptoms. Treatment of some common symptoms may include spectacle and eyeglasses to help the child with their vision. Antibiotics can be given during recurrent infections. Neutropenia can be managed by administering granulocyte colony stimulating factors (G-CSF). Genetic counseling is advised for affected individuals and their families. Treatment may require a team of specialists like:
1.Ophthalmologists.
2. Pediatricians.
3. Neurologists.
4. Orthopedists.
5. Speech therapist.
Other well-experienced healthcare professionals comprehensively plan a treatment.
Early intervention is essential to ensure that the children reach their potential. Most affected children will benefit from physical and speech therapy. Many methods of behavioral therapy may also be suitable for the child.
What Should Be Kept in Mind?
The child should be observed while he uses medications to decrease the neutrophil count, which can cause other side effects.
How Is the Prognosis?
Generally, Cohen syndrome does not affect an individual's life expectancy. The only solution is to check the treatments given to each symptom seen in the patient.
Conclusion
There is no cure as such for this disease but it can be focused on improving the early signs and symptoms in the patient. It is crucial to think of an early diagnosis in children who present with microcephaly, neutropenia, and growth delays. The various specialists should look into the features and work mindfully to avoid further complications. This is important not only for the patient, who will gain from an appropriate intervention, but also for the families who can be correctly counseled regarding the cause of this, prognosis, and other risks.
