Flynn-Aird syndrome is a rare malformation syndrome of the central nervous system, also known as hereditary neuroectodermal syndrome. The cause of the symptoms is a genetic disorder during embryonic development. A causal therapy is not yet available.
What is Flynn-Aird syndrome?
Flynn-Aird syndrome is a symptom complex belonging to the group of malformation syndromes. The complex is often also referred to as a neuroecrodermal syndrome. The neuoectoderm is part of the outer cotyledon of the embryo and develops from the neural plate during embryonic development. This process is also known as neurulation and aims to form the nervous system. In Flynn-Aird syndrome, there is maldevelopment of the nervous system. The result is central nervous system-induced deafness. In addition, patients of the syndrome show dermal symptoms and abnormalities of the skeleton. In the 20th century, US neurologists P. Flynn and Robert B. Aird first described the complex of symptoms. In their honor, the symptom complex now bears the name Flynn-Aird syndrome. The prevalence of the syndrome is extremely low, with a reported incidence of one case per 1,000,000 people. This makes neuroectodermal syndrome an extremely rare malformation disorder. Because of the low frequency of the condition, research into the syndrome is far from complete and is in its infancy.
Causes
Flynn-Aird syndrome does not occur sporadically. A familial clustering has been observed. For example, Flynn and Aird described the symptom complex in ten members of the same family who showed symptoms of the syndrome in five generations. A gender-specific preference could not be documented. This familial clustering points to a genetically inherited disposition. Apparently, the inheritance is in the autosomal-dominant mode. The cause for the individual symptoms of the syndrome lies in a disturbed embryonic development. The phase of neurulation occurs incompletely or defectively and thus causes the symptom complex. Whether, in addition to the genetic basis, poison exposure or similar factors also promote the development of the syndrome has not yet been conclusively clarified. Which processes exactly disturb the neurulation of the patients is also not yet clear. Apparently, enzymatic defects play a causative role for the symptom complex and prevent the development or differentiation of neuroectodermal tissue. Whether genetic mutations are relevant in this context is as yet unclear.
Symptoms, complaints, and signs
Like all syndromes, Flynn-Aird syndrome is a complex of various, clinical abnormalities. One of the most important, clinical symptoms of the syndrome is the patient’s bilateral sensorineural hearing loss or sensorineural hearing loss, which can develop into central deafness and occurs in most cases in late school age. Another symptom from the nervous system is the patients’ muscular atrophy, which is often accompanied by joint stiffness. The eyes of affected individuals also usually show clinical abnormalities, such as cataract, myopia, or inflammatory retinitis pigmentosa. The motor apparatus of the patients is characterized by ataxia. In addition, signs of peripheral neuritis may be present. In some cases, patients additionally suffer from epilepsy or develop dementia abnormally early. The dermal symptoms include mainly subcutaneous and cutaneous atrophies. Sometimes the dermal and central nervous symptoms are associated with significant dental caries. The skeletal system may show bone cysts and osteoporosis. In addition, in some cases, the glandular system is affected by abnormalities. Because of the involvement of multiple tissues, Flynn-Aird syndrome can also be referred to as a multitissue disorder.
Diagnosis
The physician usually does not diagnose Flynn-Aird syndrome immediately after birth. Especially if the individual symptoms are mild, the diagnosis may not be made until adulthood. The most important diagnostic tool in connection with the syndrome is x-ray imaging. The patient’s x-ray usually shows osteoporosis, kyphoscoliosis, or bone cysts. Laboratory analysis of the urine can confirm the initial tentative diagnosis. The patients’ 17-ketosteroid excretion is decreased.If additional neurological deficits can be detected, the diagnosis is considered relatively certain. Differentially, the symptomatically similar Werner syndrome, Refsum syndrome or Cockayne syndrome must be excluded. Differential diagnosis of scleroderma must also be considered. Flynn-Aird syndrome is a progressive disease with symptoms increasing over the years. For this reason, the prognosis is not considered particularly favorable. However, a lethal course has not been observed to date.
Complications
A very severe complication that occurs in Flynn-Aird syndrome is hearing loss. It does not necessarily have to be congenital, but can develop during the patient’s life. In most cases, hearing loss or complete loss of hearing occurs at school age. Children in particular are severely affected by this symptom, which can also have a negative impact on their psychological state. The loss of hearing causes depression in many of those affected. Similarly, Flynn-Aird syndrome causes joint stiffness. As a result, physical work or sports cannot be performed easily. In some cases, this results in pain. The risk of epilepsy is also increased. Caries often develops in the mouth. Treatment is not possible for Flynn-Aird syndrome. However, many symptoms can be limited and controlled. As long as complete hearing loss has not occurred, hearing aids can be used. Dental caries is treated by a dentist and can be relatively well controlled. Joint stiffness can also be treated in the course of physiotherapy. There are usually no further complications or discomforts during treatment. However, regular check-ups by the doctor are necessary.
When should you see a doctor?
In Flynn-Aird syndrome, a doctor must be consulted in any case. In this disease, there is usually no self-healing and further worsening of symptoms. For this reason, patients are always in need of treatment. The doctor should be consulted if the patient suddenly suffers from hearing complaints for no particular reason. These can also lead to complete deafness. The joints of the affected person often seem stiff and cannot be moved easily. Similarly, discomfort in the eyes may indicate Flynn-Aird syndrome and should be investigated. Many patients also suffer from dementia or epilepsy. Caries is also among the symptoms of Flynn-Aird syndrome, and the surrounding nervous system may also be affected. Usually, Flynn-Aird syndrome can be diagnosed by a general practitioner or by a pediatrician. Treatment is then provided by various specialists, as the condition is only treated symptomatically. Many affected persons and their relatives are dependent on psychological treatment and care. This should always be done with a psychologist to avoid further complications and discomfort.
Treatment and therapy
To date, there is no causal therapy for patients with Flynn-Aird syndrome. Because the syndrome appears to have a genetic basis, gene therapy would be particularly indicated as a causal therapy. Gene therapy measures are currently the subject of research in medicine. So far, however, they cannot be applied without hesitation. Therefore, only symptomatic treatment measures are currently available for the syndrome. Symptomatic treatment includes, for example, surgical removal and further monitoring of the bone cysts. The caries tendency of the patients is treated by the dentist. Dietary measures may also show success in this context. Treatment of skin abnormalities is dermatological medicinal. Central nervous symptoms such as ataxia can be addressed by physical and occupational therapy supportive care. However, symptoms such as dementia or progressive hearing loss are difficult to treat. The situation is different for osteoporosis, for example, which can at least be reduced with dietary measures and medication. Above all, regular checks of the skeleton are important to ensure prompt intervention if the need arises.
Outlook and prognosis
To date, Flynn-Aird syndrome has no causative treatment.If the individual symptoms are recognized and treated at an early stage, the prognosis is nevertheless relatively good. In most cases, those affected can lead a completely normal life. Any hearing difficulties or stiffness can be alleviated by various aids. People suffering from Flynn-Aird syndrome can then pursue a normal occupation despite the disease and usually also move around without pain. A well-adjusted medication additionally prevents the typical complaints. However, additional side effects can never be completely ruled out. If postural deformities, fractures or other complications have already occurred as a result of the movement restrictions, the prognosis is less positive. In this case, the patients often suffer from further complaints for the rest of their lives, which also affect their mental state in the long term. As a result, depression and personality changes may develop, which require comprehensive therapy. Hearing difficulties or stiffness are also usually a great burden for the sufferers, especially if they are recognized too late and no treatment is possible. In general, however, the outlook for a life relatively free of symptoms is relatively good.
Prevention
Flynn-Aird syndrome is a genetic disorder, the relationships between which have not been conclusively established. Therefore, the only preventive measure available to date is a decision not to have children of one’s own if the syndrome runs in the family.
Follow-up
In Flynn-Aird syndrome, there are no direct options for follow-up care available to the patient in most cases. In this case, the affected person must first rely on medical treatment for this disease to prevent further symptoms or complications. Since this is a genetic disease, it is therefore not possible to completely cure Flynn-Aird syndrome. If the affected person has a desire to have children, genetic counseling can also be performed to prevent the syndrome from being passed on to descendants. In most cases, the symptoms of the teeth are treated by a dentist. The dentist must be visited regularly in order to detect and treat damage at an early stage. In the case of children, it is above all the parents who must pay attention to regular visits. Furthermore, attention should also be paid to a healthy lifestyle with a healthy diet in order to alleviate the symptoms of Flynn-Aird syndrome. In many cases, patients also rely on the measures of physiotherapy. In this regard, some of the exercises from this therapy can also be performed in the patient’s own home, possibly speeding up the healing process. Contact with other Flynn-Aird syndrome patients may also be useful in this process.
Here’s what you can do yourself
Flynn-Aird syndrome is considered a hereditary and incurable chronic disease. Accordingly, independent everyday help is difficult. The only way to help yourself is to alleviate the accompanying symptoms. For example, muscle atrophy and joint stiffness occur in those affected. These phenomena can be prevented by movement exercises. In this way, consequential damage can be avoided under certain circumstances. Possible ataxia can also be avoided in this way. It is important that the patient’s personal exercise tolerance limits are taken into account. With regard to the impairment of vision, it is advisable to secure the home of the affected person accordingly. It makes sense to cushion dangerous edges and protrusions. In addition, sufficient light sources should be available for the evening and night. Another focus should be on daily dental care, as affected persons tend to develop caries. Patients should pay increased attention to oral hygiene. A sugar-reduced diet and avoidance of aggressive acids as far as possible can also reduce the risk of caries. These methods cannot be used to directly counteract Flynn-Aird syndrome. However, these self-help strategies can reduce accompanying symptoms and associated physical and psychological stress.
