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Review
. 2022 Jun 23;12(7):1535.
doi: 10.3390/diagnostics12071535.

Prenatal Diagnosis of Neu-Laxova Syndrome

Adriana Serrano Olave  1 , Alba Padín López  1 , María Martín Cruz  1 , Susana Monís Rodríguez  1 , Isidoro Narbona Arias  1 , Jesús S Jiménez López  1   2
Affiliations
Review

Prenatal Diagnosis of Neu-Laxova Syndrome

Adriana Serrano Olave et al. Diagnostics (Basel). .

Abstract

Neu-Laxova syndrome is a rare and lethal genetic disease with autosomal recessive inheritance involving abnormalities of multiple systems. It was first reported in 1971. Since then, just eighty-eight cases have been reported. The syndrome is characterized by early and severe growth restriction, and craniofacial anomalies, such as microcephaly, hypertelorism and other malformations, resulting in quite characteristic features. Additionally, it might appear as generalized edema, flexion contractures and other malformations of the extremities, abnormalities in the CNS (central nervous system), skin (severe ichthyosis), and genitourinary and cardiac abnormalities. We present the case of a patient who had her first pregnancy with a fetus with Neu-Laxova syndrome diagnosed in our center during the second-trimester ultrasound. The ultrasound findings suggested the diagnosis, which was confirmed with a genetic study of the amniotic fluid: the variant of the PSAT1 gene, associated with NLS (Neu-Laxova syndrome) 2 in homozygosis. Moreover, there was a second pregnancy with a fetus carrying the same mutation in heterozygosis. In addition, we have carried out a review of published literature about this disease up to the present time.

Keywords: Neu–Laxova syndrome; amniotic fluid; facial dysmorphism; fetal edema; genetic study; intrauterine growth restriction; proptosis; restrictive dermopathy; ultrasound findings.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Summary of the main aspects discussed in the manuscript.
Figure 2
Figure 2
Axial view of midline with non-visualization of the CSP, showing directly the columns of the fornix. Additionally, we can observe microcephaly. Measurements corresponding to a gestational age of 16 weeks.
Figure 3
Figure 3
In sagittal section, the corpus callosum is not present. Both findings are consistent with total ACC.
Figure 4
Figure 4
Axial view of the posterior fossa. Hypoplastic cerebellum: it shows cerebellum with a maximum transverse diameter of 14 mm. Cerebellomedullary cistern and nuchal fold within normal range.
Figure 5
Figure 5
Sagittal section of the fetal profile, where nasal bone, prefrontal edema and mild micrognathia could be seen.
Figure 6
Figure 6
Initial ocular proptosis bilaterally.
Figure 7
Figure 7
Normal four-chamber Yagel slice.
Figure 8
Figure 8
Mild deviation of the cardiac axis to the left.
Figure 9
Figure 9
Wrist joint seemed fixed and feet located in hyperflexion with little mobility.
Figure 10
Figure 10
Feet located in forced hyperflexion and with reduced mobility.
See this image and copyright information in PMC

References

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