Neu-Laxova syndrome


Neu-Laxova syndrome

Description, Causes and Risk Factors:

Abbreviation: NLS.

Neu-Laxova syndrome is a rare lethal congenital disorder involving multiple systems. Intrauterine growth retardation, ichthyosis, microcephaly, abnormal facial findings, and limb contractures are its key features.

The underlying pathogenesis Neu-Laxova syndrome still remains unknown. But most authors have suggested that Neu-Laxova syndrome may be a complex neuro ectodermal dysplasia-mesenchymal dyshistogenesis syndrome. Several hypotheses have been proposed for symptoms in this condition. Researchers claimed that many features may be caused by ichthyotic skin changes. Protein loss through the skin lesions can create in utero hypoproteinemia and polyhydramnios, generalized edema and swollen limbs might be secondary to this loss. This hypothesis has not proved and some authors opposed this theory.

Neu-Laxova syndrome may also be associated with malformations of the brain. In many cases, there is incomplete development of the folds (gyri) of the outer region of the brain (cerebral cortex), causing the brain's surface to appear unusually smooth (agyria). Additional malformations may include absence of the thick band of nerve fibers that connects the two hemispheres of the brain (agenesis of the corpus callosum) or underdevelopment (hypoplasia) of the cerebellum, which is the region of the brain that plays an essential role in coordinating voluntary movements and maintaining proper posture. In addition, in some instances, there may be cystic malformation of the fourth cavity (ventricle) of the brain (Dandy-Walker malformation) and associated hydrocephalus. Hydrocephalus is a condition in which there is impaired flow or absorption of the fluid that circulates through the ventricles of the brain and the spinal canal (cerebrospinal fluid [CSF]), potentially leading to increasing fluid pressure in the brain, a rapid increase in head size, or other associated findings. In some cases, Neu-Laxova syndrome may also be associated with additional abnormalities of the brain and spinal cord.

Because of the autosomal recessive inheritance of NLS, in countries with high rates of consanguineous (relating to or denoting people descended from the same ancestor) marriage, it is important that physicians should consider this syndrome, and serial prenatal ultrasound examinations should be performed on pregnant women at high risk. Moreover, the association between intrauterine growth retardation and Neu-Laxova syndrome is not consistent.

Neu-Laxova syndrome appears to affect males and females in relatively equal numbers. Since the disorder was originally described in three siblings in 1971 as well as three siblings in another family in 1972, over 30 additional cases have been reported.

Symptoms:

Typical signs and symptoms may include:

    Intrauterine growth retardation.

  • Low birth weight and length.

  • Marked smallness of the head (microcephaly).

  • Sloping of the forehead.

  • Widely spaced eyes (ocular hypertelorism).

  • Limb deformities.

  • Hypoplastic lungs.

Diagnosis:

Neu-Laxova syndrome is usually diagnosed based on the signs and symptoms which typically characterized by abnormal accumulations of fluid in tissues throughout the body (generalized edema); permanent flexion and immobilization of multiple joints (flexion contractures); other limb malformations; and/or abnormalities of the brain, skin, genitals, kidneys, and/or heart.

Because of the autosomal recessive inheritance of Neu-Laxova syndrome genetic counseling and early serial ultrasound examination should be performed at risk families. Early diagnosis of the disease may offer termination of the pregnancy as an option.

Treatment:

There is no known cure. Most infants with Neu-Laxova syndrome have either been stillborn or died very shortly after delivery. However, there is one reported case of an affected Japanese infant who lived for 134 days. Humane medical care is therefore appropriate in survivors although the prognosis would still be extremely poor.

The treatment of Neu-Laxova syndrome is directed toward the specific symptoms that are apparent in each individual. Such treatment may require the coordinated efforts of a team of medical professionals, such as pediatricians (a specialist in the care of babies); neurologists (a medical specialist in the nervous system and the disorders affecting it), cardiologist (a specialist in the structure and function and disorders of the heart); and/or other health care professionals. In addition, genetic counseling will be of benefit for affected families.

For those couples who have had a previous child with Neu-Laxova syndrome, serial prenatal ultrasound evaluations should be offered to monitor fetal growth, screen for physical abnormalities, and, assess fetal wellbeing later in pregnancy given the increased risk for stillbirth. Ultrasound diagnosis of any of the structural birth defects associated with Neu-Laxova syndrome in these families should be considered evidence of the disorder. Since some of these findings may not become evident until later in pregnancy, termination of the pregnancy may not be an option for some couples. Plans for the remainder of the pregnancy as well as delivery can, however, be discussed. Given the serious prognosis associated with Neu-Laxova syndrome, some parents may find a non-interventionist approach during labor and delivery, such as no fetal monitoring or Cesarean section delivery, acceptable. A clinical examination after birth is recommended.

NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

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