Neu-Laxova syndrome

Keywords and Terms: Neu-Laxova syndrome, microcephaly, ocular hypertelorism, craniofacial, autosomal recessive, lymphedema, edema, autopsy, Dandy-Walker Malformation, hepatomegaly, transposition of great vessels, IUGR, ichthyosis, Ultrasonography, Cerebellar hypoplasia, Cerebro-osseous-digital syndrome, lethal skeletal dysplasia, lymphatic dysplasia, limb contractures, ocular proptosis, edematous fetus.

Cause

Genetic disorder inherited as an autosomal recessive trait.

Risk Factors

Though it is believed to be genetic, researchers have attempted to isolate specific markers such as consanguinity and history of intrauterine death or stillbirth in siblings to help in the prenatal diagnosis of Neu-Laxova Syndrome.

Diagnosis

Can be diagnosed through the use of sonography.

“The ultrasonographic may include receding forehead, hypertelorism, cataract, severe ectropion, proptosis, prominent eyes, malformed ears, flat nose, micrognathia, severe microcephaly, lissencephaly, dysgenesis of the corpus callosum, hypoplasia of the cerebellum, Dandy-Walker anomaly, choroid plexus cysts, unilateral renal agenesis, abnormal external genitalia (curved penis, cryptorchidism), hypoechoic skeletal structures, kyphosis, contractures of limbs, swelling and webbing of the knee and elbow joints, and severe edema of the hands and feet, giving the impression of absent digits, edema, polyhydramnios, intrauterine growth retardation and feeble fetal.” (1)

Differential diagnosis:

Lissencephaly, cerebrooculofacioskeletal syndrome, arthrogryposis.

Symptoms

Severe growth delays before birth (intrauterine growth retardation); low birth weight and length; and distinctive abnormalities of the head and facial (craniofacial) region, marked smallness of the head (microcephaly), sloping of the forehead, widely spaced eyes (ocular hypertelorism), generalized edema, Yellow subcutaneous tissue, Syndactyly of fingers, Syndactyly of toes Puffy hands, Puffy feet, Persistent embryonic eye structures, Absent eyelashes, Absent head hair, Underdeveloped genitals, Polyhydramnios, Short umbilical cord, Small placenta..

Also, permanent flexion and immobilization of multiple joints (flexion contractures); other limb malformations; and/or abnormalities of the brain,skin, genitals, kidneys, and/or heart.

Treatment

Neu-Laxova is universally fatal. There is no known treatment or preventative measures that can be done.

Prognosis

Neu-Laxova syndrome is fatal. Affected individuals are usually stillborn or die within six months of birth.

Neu-Laxova

Rare manifestations of Neu-laxova syndrome.

Feb 2012

Badakali M, Badakali A, Dombale V. Source Department of Obstetrics and Gynecology, S.N. Medical College and Research Centre, Bagalkot, India.

Abstract

Keywords Neu-Laxova syndrome, growth retardation, autopsy, Dandy-Walker malformation, hepatomegaly, transposition of great vessels

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. We present a stillborn female baby of 1.5 kg with characteristic features including growth retardation, microcephaly, severe ectropion, micrognathia, flattened nose, eclabion, large ears, puffy hands and feet. In addition to these features, lissencephaly, severely hypoplastic cerebrum and corpus callossum, Dandy-Walker malformation, Transposition of Great Vessels and hepatomegaly were noted at autopsy. The patient was born at 38 weeks of gestation to consanguineous (second degree) Indian parents. The mother was 26 year old second gravida with lack of prenatal followup. Therefore, the condition was diagnosed postnatally. Because of the autosomal recessive inheritence of Neu-Laxova syndrome, in countries with high rates of consanguineous marriage, serial prenatal ultrasound examinations with genetic counseling should be performed on pregnant women at high risk to offer termination of affected pregnancies.

Informa

Neu-Laxova syndrome: a prenatal diagnosis.

Oct 2011

Dhillon P, Bofill JA.

Source

Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of Mississippi Medical Center, Jackson. 39216, USA.

Abstract

Neu-Laxova syndrome is a rare autosomal recessive congenital disorder. Prenatal diagnosis is possible via second trimester ultrasonography. Characteristic ultrasound findings include hydramnios, severe intrauterine growth restriction, craniofacial and CNS anomalies, limb contractures, skin lymphedema, skin restrictions, and akinesia. Fewer than 70 cases have been reported, and no survival beyond six months of age is known with most neonatal deaths occurring within the first few days of life. Overall, this is a lethal condition after birth secondary to severe lung hypoplasia and brain anomalies. Herein we report a recent case from our institution with prenatal diagnosis.

PubMed

The Primary Valves in the Initial Lymphatics during Inflammation.

The Primary Valves in the Initial Lymphatics during Inflammation.

Lymphat Res Biol. 2007
Lynch PM,
Delano FA,
Schmid-Schonbein GW.
Department of Bioengineering, University of California San Diego, La Jolla, California., Supported by United States Public Health Service Grant HL 10881.

Background: The primary valve system in the initial lymphatics prevents fluid transport from the initial lymphatics back into the interstitium. The authors hypothesize that since the primary valves are made up of an extraordinarily thin endothelium, they are readily compromised by mechanical or biochemical inflammatory stimuli. Thus, the opening dimension of the primary valves and their ability to prevent reflux into the interstitium during inflammation were investigated.

Methods and Results: Acute inflammation was generated in the intact rat spinotrapezius muscle by suffusion of f-Met-Leu-Phe and platelet-activating factor. Once inflamed, the effective opening dimensions of the primary valves and the transport back out of the initial lymphatics were determined by examining the transport of fluorescent tracers from the interstitium to the lymphatics. Quantum dots and fluorescently labeled albumin readily enter initial lymphatics from the interstitium. The maximum diameter of microspheres that enter the initial lymphatics is between 0.5 mum and 0.8 mum in both control and inflamed tissue. While under control conditions no quantum dots escaped from initial lymphatics back into the interstitium, during inflammation there was extensive escape of quantum dots.

Conclusions: These results suggest that, in acute inflammation, the function of the endothelial barriers in the initial lymphatics may be compromised.

A failure of the primary lymphatic valves has two consequences.

First, fluid clearance from the tissue is less efficient, which causes the level of edema to increase.

Second, the leaking initial lymphatics allow inflammatory mediators to accumulate in the tissue, therefore enhancing interstitial and lymphatic inflammatory reactions.

PMID: 17508898 [PubMed - in process]