Neu-Laxova syndrome is a malformation syndrome that has been associated with incest. Affected children have multiple malformations with a usually lethal course. Therapeutic options are almost nonexistent because of the severity and multiplicity of the malformations.
What is Neu-Laxova syndrome?
Malformation syndromes are a set of symptom complexes that appear from birth as multiple malformations. Neu-Laxova syndrome is one such symptom complex with multiple birth defects. In this syndrome, the series of physical malformations results in stunted growth and is usually associated with a lethal course. At the end of the 20th century, a team led by geneticist R. L. Neu first described the symptom complex. Shortly thereafter, the malformation syndrome was described by the Czech-American geneticist R. Laxová in three additional cases. Further cases were described by a team of geneticists led by Viera Povysilová. The term Neu-Laxoa syndrome was first used by G. Lajzuk. Synonymous names are Neu syndrome and Neu-Povysilová syndrome. The malformation complex is extremely rare and has been described in only about 50 cases. For this reason, the state of research around the disorder has not yet reached a conclusion.
Causes
Because of the few cases recorded to date, the causes of Neu-Laxova syndrome have not been conclusively determined. A hereditary basis is suggested. However, the karyotype at the cases described so far was unremarkable and did not show any peculiarities or abnormalities. An autosomal recessive mode of inheritance is suspected on the basis of previous research results. The malformation complex seems to be favored by incest. In most of the cases studied so far, the parents of the affected persons were more or less closely related. That incestuous reproduction may be associated with malformations has long been a proven fact. The ethnic background of the cases described so far is highly variable. Ethnic factors therefore do not seem to play a causative role for the syndrome. The same is true for gender. The gene responsible for the symptom complex has not yet been identified.
Symptoms, complaints, and signs
Patients with Neu-Laxóva syndrome suffer from multiple malformations and developmental disorders. In addition to intrauterine growth retardation, severe microcephaly usually occurs. A receding forehead is characteristic of the malformation syndrome, as are severe ichthyosis and multiple, facial dysmorphias. The central nervous system of affected individuals also usually shows severe defects. In addition to type III lissencephaly, these include hypoplasia of the cerebellum or brainstem. Enlarged ventricles are common, as are intracerebral calcifications, Dandy-Walker anomaly, or agenesis of the corpus callosum. This nonunion of the cerebral balk causes behavioral abnormalities, sensory disturbances, and sometimes mental retardation. Facial symptoms often include hypertelorism or microgenia in addition to severe proptosis including ectropion of the eyelids. Equally common are flat noses and malformed ears. Patients have thick lips and a round mouth that is usually open. Malformations of the limbs include defects of the radial ray. The external genitals often appear abnormal. At times, arthrogryposis multiplex is also present.
Diagnosis and course of the disease
Diagnosis of Neu-Laxova syndrome and its clinical malformations is usually made by the physician by visual diagnosis immediately after birth. Prenatal diagnosis is also possible. In addition to IUGR, hydramnios and hypoechogenic skeletal structures, ultrasound at 20 weeks of gestation already shows microcephaly, prominent eyes and decreased motility. By means of sonography, massive swelling of the scalp also appears in most cases. In addition to the knees, elbow joints and hands, the feet also appear swollen. This often gives the impression that the child is missing fingers. In a histopathology, postpartum skin changes such as massive fat accumulation with hypertrophy or edema, a lack of cortical bone, or changes in nervous tissue may support the diagnosis. Neu-Laxova syndrome patients generally have an extremely unfavorable prognosis.Either those affected are born already dead or die shortly after birth.
Complications
Due to Neu-Laxova syndrome, affected children suffer from very many and, above all, severely pronounced malformations. Usually, these malformations can no longer be treated with the help of surgery, so direct treatment of this disease is not possible. Delays in growth also occur due to Neu-Laxova syndrome, so that the children are dependent on the help of other people. For this reason, severe complications and limitations occur even in adulthood. Furthermore, Neu-Laxova syndrome is accompanied by severe mental retardation and the affected children show severe behavioral abnormalities. Likewise, various malformations occur directly in the face of the patients, so that speech disorders or swallowing difficulties may occur. In many cases, Neu-Laxova syndrome also leads to direct stillbirth. If the affected person survives the birth, he or she usually dies a few days after birth. Since there is no treatment available, there are no particular complications. However, it is not uncommon for the parents or relatives to need psychological care if the child dies. This is usually done with the help of psychotherapy.
When should you go to the doctor?
If there is knowledge of possible incest, it is generally necessary to consult a doctor. In these cases, the offspring shows various malformations that must be examined and clarified. If children are born with physical malformations, these are noticed and further examined by the obstetricians in the first examinations immediately after the birth in the hospital or birth center. If there is a need for action from a medical point of view, immediate adequate care of the newborn is initiated. If the parents or relatives do not notice any abnormalities in the child’s physique or delays in general development until the child’s further development and growth process, a doctor should be consulted. Comparisons between children of the same age can provide information as to whether irregularities are present or whether the development is natural. If there are observable significant learning delays, changes in physique, or peculiarities in behavior, the indications should be discussed with a physician. A reduction in intelligence, abnormalities within social interactions, or sensory perception disorders should be examined and treated by a physician. If there are visual abnormalities such as thick lips or changes in the external sex organs, a doctor’s visit is necessary. If inconsistencies in movement patterns are noted, or if there is unsteadiness in gait as well as poor posture of the body, consultation with a physician is advised.
Treatment and therapy
There is no causal therapy for Neu-Laxova syndrome. The symptom complex can only be treated symptomatically. Because most patients have been stillborn and such few cases of the syndrome have been recorded in general, there are few reports or literature on any treatment options. While deformities of the toes or fingers may be surgically correctable, central nervous system malformations are not. Congenital heart defects can also theoretically be treated. However, due to the large number of malformations, affected individuals are unlikely to survive any treatments or corrections. When patients of Neu-Laxova syndrome are born alive, the main claim of treatment is to improve the quality of their presumably severely limited lives. The parents of affected children must receive professional assistance in the context of psychotherapy. Prenatal diagnosis enables therapeutic assistance to the parents well before birth. In this way, the therapist can prepare the expectant parents for the birth and death of the child. Therapeutic care for the parents should continue in a processing manner after the death of the child. In addition, parents must be informed in an educational session of the 25 percent risk of recurrence that exists for additional children.
Outlook and prognosis
Patients with Neu-Laxova syndrome suffer from multiple malformations that result in an unfavorable prognosis.In most cases, the various birth defects are so severe that premature death of the patient is the consequence. In addition to numerous visual abnormalities, there are behavioral disorders as well as mental retardation. Movement restrictions, growth disorders and swallowing difficulties are among the usual symptoms of the patient. In a large number of affected individuals, stillbirth or a life span of a few days is documented. If the patients survive the first weeks or months, the further course of development is also difficult and must be evaluated individually. Surgical interventions are necessary to ensure survival or to improve the existing quality of life. Without medical care, acute situations develop that often lead to a fatal course. Due to the overall circumstances, psychotherapeutic support is necessary. The patient as well as his relatives need help because they are in a difficult life situation. Medical progress makes it possible to successfully treat some of the possible complaints. For example, heart defects can be treated immediately after birth with an otherwise stable functioning of the organism. Likewise, surgical interventions for the correction of deformities of the skeletal system are possible. This allows improved well-being for the patient despite the reduced life expectancy.
Prevention
The exact circumstances and causes of Neu-Laxova syndrome have not yet been conclusively determined. For this reason, there are few preventive measures. Because of its association with incestuous relationships, abstinence from any incest can be described as a preventive measure. Moreover, due to the possibility of early prenatal diagnosis, parents can decide against the child.
Aftercare
In most cases, only a few and also limited measures of aftercare are available to the affected person in Neu-Laxova syndrome. Direct treatment is not possible in this case, as this is a hereditary disease that cannot be completely cured. As a rule, no childbearing should be pursued in Neu-Laxova syndrome, since the disease can also be inherited by descendants. A doctor should be consulted at the very first signs and symptoms of the disease to avoid further complications or further worsening of the symptoms. The treatment itself depends on the severity of the symptoms, so that a general prediction is usually not possible. Those affected are dependent on physiotherapy measures, although many of the exercises can also be performed in the patient’s own home. In the case of a stillbirth, the parents are dependent on intensive psychological therapy, whereby the help of their own family and relatives is also useful. Likewise, another desire to have children with the same partner should not be pursued again to prevent the recurrence of Neu-Laxova syndrome.
What you can do yourself
Neu-Laxova syndrome is always fatal. Self-help measures for parents can consist of talking to other affected people and general measures such as exercise and taking it easy. Participation in support groups makes it easier to understand and accept the condition. This allows parents to accept the loss of the child in the long term. In addition, trauma therapy is often necessary. The parents can also participate in special couple therapies, in which the traumatic phase of life can be worked through. Often, after a serious event, parents do not succeed in overcoming it without outside help. Visiting a specialist center for malformation syndromes or talking to a specialist are important components of effective self-help. The affected child usually dies in the womb. Should a live birth occur, curative measures can be initiated. Parents should spend a lot of time with the child in the remaining days and weeks. Neu-Laxova syndrome is a congenital disease, which is why genetic counseling is recommended for parents who wish to father offspring again after the loss of a child, so that the risk of a recurrence of the disease can be assessed.
