LEOPARD Syndrome Definition and Meaning
According to abbreviationfinder, LEOPARD syndrome is closely related to Noonan syndrome and is characterized by dermal and cardiac malformations that can be associated with symptoms such as deafness and retardation. The cause of the syndrome is a mutation in the PTPN11 gene. The treatment of those affected is symptomatic and focuses primarily on the heart defect.
What is LEOPARD Syndrome?
As with Noonan syndrome, the cause of LEOPARD syndrome lies in the genes. The disease trigger is a genetic mutation.
Malformation syndromes are recurring combinations of different malformations that are congenital and affect multiple tissues or organ systems. One of the most common malformation syndromes with a genetic basis is Noonan syndrome, which is considered the second most common cause of congenital heart defects. On average, the syndrome affects one newborn in every 1,000 births in Germany.
LEOPARD syndrome is closely related to the widespread Noonan syndrome. Like Noonan syndrome, LEOPARD syndrome is also associated with cardiac malformations, which are usually associated with cutaneous malformations as part of the disease. The term LEOPARD is an acronym for the typical clinical features of the malformation complex.
Lentiginosis, ECG changes, ocular abnormalities, pulmonary stenosis, anomalies in the genital area, retarded growth and deafness are summarized in the acronym as symptoms. In addition to the terms cardiocutaneous syndrome, cardiomyopathic lentiginosis and lentiginosis syndrome, the terms progressive cardiomyopathic lentiginosis and Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome are synonymous terms for the disease.
As with Noonan syndrome, the cause of LEOPARD syndrome lies in the genes. The disease trigger is a genetic mutation. What both syndromes also have in common is that they are categorized as hereditary diseases with occasionally sporadic cases.
Familial accumulation was therefore observed for the LEOPARD syndrome and can be explained in this case in the autosomal dominant inheritance. However, new mutations also occur, such as those found in cases without a family history or inherited disposition. In most cases, LEOPARD syndrome is preceded by a mutation in the PTPN11 gene.
This gene codes for a so-called non-receptor protein, for the tyrosine phosphatase SHP-2. The protein loses part of its function due to the mutation of the gene. Because of the mutational defects, the non-receptor protein tyrosine phosphatase SHP-2 possesses its intended catalytic activity. As a result, it only exerts an insufficient influence on certain growth or differentiation factors, with which the symptoms of LEOPARD syndrome can be justified.
Symptoms, Ailments & Signs
Like any other malformation syndrome, LEOPARD syndrome is characterized by different symptoms. The main symptoms include lentiginosis, which means a multiple lens-shaped dermal macula. Conduction disturbances such as bundle branch blocks appear as ECG changes in the patient.
There is ocular hypertelorism in the sense of an increased interpupillary distance. Pulmonary artery stenosis with possible obstructive cardiomyopathy can also be symptomatic of the syndrome. In addition, there are often anomalies in the genital area, especially cryptorchidism or monoorchidism. The musculo-skeletal development of the patients is usually delayed. Deafness is another key symptom.
Accompanying symptoms can occur in addition to the main symptoms, above all neurological symptoms such as seizures or nystagism. In individual cases, mental retardation was observed in the patients. The lentigines of the syndrome usually develop in childhood and often cover the entire body surface. With age, the changes on the face fade away, but remain in the oral cavity.
Diagnosis & course of disease
The first suspected diagnosis of LEOPARD syndrome is made on the basis of the clinical picture and the medical history. Extensive and organ-specific examinations may be necessary to detect abnormalities such as a heart defect. In order to secure the suspected diagnosis, similar malformation syndromes must be excluded in the course of diagnostics using differential diagnostics.
A molecular genetic examination can finally confirm the suspected diagnosis. The prognosis for patients with LEOPARD syndrome depends on the symptoms, their severity and treatability in the individual case. The life expectancy of the patients is usually not affected.
Those affected by LEOPARD syndrome suffer from various complaints and symptoms. However, these symptoms are very serious and can significantly reduce the quality of life of those affected. This usually results in numbness and possibly also discomfort in the eyes. Especially in children, these restrictions can lead to severe delays in the development of those affected.
Furthermore, various malformations occur all over the body, so that in most cases the patients are dependent on the help of other people in their everyday life. Mental retardation also occurs as a result of LEOPARD syndrome. It is not uncommon for the relatives or parents of the affected children to suffer from mental health problems and depression.
The syndrome can also lead to a heart defect, thereby significantly reducing the patient’s life expectancy. Seizures can also occur and be associated with pain. Various changes occur on the face, which can lead to bullying or teasing of the patient.
A causal treatment of LEOPARD syndrome is not possible. Those affected are dependent on various therapies that reduce the symptoms. Although there are no further complications, the course of the disease is not completely positive.
When should you go to the doctor?
LEOPARD syndrome is often diagnosed immediately after birth. Whether further medical treatment is necessary depends on the severity of the malformations and accompanying symptoms. In principle, anomalies in the genital area must be treated in the same way as muscular disorders. Parents should discuss this with the doctor responsible and then arrange for suitable measures to be taken. If there are complications during the course of the disease, such as seizures or serious skin changes, the doctor must be informed.
If an accident occurs as a result of a seizure, the medical emergency service is the appropriate contact point for the parents. In addition to the general practitioner, an orthopaedist, urologist, gynaecologist, neurologist and/or dermatologist must be involved depending on the symptom complex. Malpositions and poor posture are treated by a physiotherapist. LEOPARD syndrome is often linked to psychological problems that require therapeutic treatment. The therapy of the physical complaints takes several months to years, whereby the individual symptoms have to be treated for a lifetime, even if they are treated early.
Treatment & Therapy
A causal therapy for the causal elimination of LEOPARD syndrome is not yet available. However, since the symptoms of the malformation syndrome can be traced back to a genetic defect, advances in gene therapy could open up causal treatment options within the next few decades. To date, gene therapy approaches have not reached the clinical phase.
For this reason, patients with the malformation syndrome have so far been treated symptomatically and supportively. Depending on the symptoms present in the individual case, the doctor treating you will prioritize the treatment of vital organs, for example. If there is a heart defect, invasive treatment is usually carried out.
After the corrective operation, conservative drug therapy steps may become necessary. Apart from the cardiac defects, most malformations associated with LEOPARD syndrome do not require any therapeutic intervention. Monitoring and regular check-ups of lentiginosis are usually not necessary.
Studies have shown that there is no increased tendency to degenerate the dermal changes. Patients therefore do not have to reckon with a higher risk of cancer. Measures such as physiotherapy or early support can be used in individual cases to counteract the mental and sometimes motor development delays that are sometimes present.
The widespread deafness of the patients can also be treated in moderation. The provision of hearing aids can be considered under certain conditions. Immediate introduction to sign language is helpful for unsuitable patients in order to give them unrestricted opportunities for expression.
Outlook & Forecast
Although the life expectancy of the patient is not necessarily limited in Leopard syndrome, symptoms can occur as the disease progresses, which can severely limit the quality of life. Deafness is possible, and there may also be discomfort in the eyes. In young patients, these restrictions can also lead to a delayed development of the affected person. Malformations on the patient’s body are also possible, which in the further course can make the affected person dependent on constant help in everyday life. Mental impairments have also been observed, but these do not occur regularly.
In the case of juvenile patients in particular, it is recommended to offer psychological support to the parents of those affected, because it is not uncommon for the children’s relatives to suffer greatly from the course of the disease, which can lead to depression or psychological problems. Heart defects can also occur as the disease progresses. Seizures associated with pain are possible and should be treated separately. Another problem can be changes in the patient’s face. Here, as a psychological aspect, teasing or “bullying” that may occur from the social environment is added.
A causal treatment of Leopard syndrome is not yet possible. Various forms of therapy provide relief and partial improvement for those affected, but a cure is not possible according to the current state of medicine. Even if further complications can be ruled out during the course of therapy, one cannot generally speak of a positive course of the disease.
Since the LEOPARD syndrome is a genetic malformation syndrome, the phenomenon can only be prevented to a limited extent. In the broadest sense, for example, genetic counseling in the family planning phase can be seen as a preventive step. Due to the possibility of a new mutation, the disease cannot be completely ruled out for a planned child, despite genetic counseling.
Those affected with LEOPARD syndrome usually have very few or even no special measures and options for aftercare. First and foremost, early detection is very important so that the symptoms do not worsen further. The earlier a doctor is contacted, the better the further course is, as a rule.
Since LEOPARD syndrome is a hereditary disease, genetic testing and counseling should always be carried out if you wish to have children in order to prevent the disease from recurring in the offspring. As a rule, patients with LEOPARD syndrome are dependent on various surgical interventions to relieve the symptoms and remove the tumors.
After such a procedure, the person concerned should definitely rest and take care of his body. Efforts or physical activities should be avoided. Furthermore, many patients are also dependent on the help of other people in their everyday life. Above all, the help and care provided by one’s own family has a very positive effect on the course of the LEOPARD syndrome and can possibly also prevent depression or other mental upsets.
You can do that yourself
The measures for self-help and for alleviating the symptoms are very limited for patients. In some cases, however, symptoms can be alleviated.
Since it is a hereditary disease, genetic counseling is highly advisable for those affected and their parents. This can prevent the syndrome from occurring in future generations. The motor and intellectual delays associated with this syndrome are treated through physical therapy and intensive support. The exercises from physiotherapy can often be carried out at home, which also speeds up the therapy.
Furthermore, the parents and relatives should always encourage the child to compensate for the intellectual ailments. Early support in particular has a very positive effect on the further course of these complaints. People who are deaf should always wear a hearing aid, as without a hearing aid, the ears can be further damaged by loud noises. As a rule, this also promotes the development of the child, since it can take part in conversations. Furthermore, contact with other people affected by LEOPARD syndrome is often worthwhile, as this can lead to an exchange of information.