A Collodion Baby with Facial Dysmorphism, Limb Anomalies, Pachygyria and Genital Hypoplasia: A Mild Form of Neu-Laxova Syndrome or a New Entity?

Neu-Laxova syndrome is a rare, lethal, autosomal recessive disorder characterized by intrauterine growth retardation, central nervous system anomalies, skin findings, such as ichthyosis, edema, collodion baby and harlequin fetus, facial dysmorphic features, limb anomalies and genital hypoplasia. Although it is generally a lethal condition, cases of such patients who lived beyond 6 months and 10 months of age have been reported. Here, we describe an 8-year-old boy who was born with collodion membrane, facial dysmorphic features, limb anomalies, genital hypoplasia and pachygyria. He had no major health problems over the course of 8 years of follow-up, except for mild mental/motor retardation, ichthyosis, facial dysmorphic features and limb anomalies. Based on these features, we suggest that because Neu-Laxova syndrome represents a heterogeneous phenotype, our case may be a milder variant of this syndrome or a new genetic entity.

Síndrome de Neu-Laxova / Neu-Laxova syndrome

El síndrome de neu-laxova es una enfermedad genética, que se hereda como rasgo autosómico recesivo. Se caracteriza por retraso del crecimiento intrauterino, microcefalia, ictiosis, exoftalmos y edema generalizado, pero puede asociarse a cualquier tipo de malformaciones cutáneas y viscerales con atrofia o hipoplasia de todas las estructuras del cerebro, microgenitalismo, agenesia renal, hipoplasia pulmonar y mal formación cardiaca. La supervivencia máxima comunicada ha sido de seis semanas.El caso presentado, atendido en el hospital maternidad “Enrique C. Sotomayor” de Guayaquil, trata de recién nacido de sexo femenino. Se observó piel cubierta de placa escamosa amarillenta, brillante, además de malformaciones de extremidades y ectropión, con sobrevida de seis días. El eco transfontanelar reveló hipoplasia de las estructuras cerebrales.Conclusiones: En la mayoría de los casos reportados en la literatura médica, los padres han sido consanguíneos.Recomendaciones: La ultrasonografía nos permite obtener el diagnóstico prenatal.

The neu-laxova syndrome is a very strange genetic illness that is inherited like feature recessive autosómico. It is characterized by delay of the intra-uterine growth, microcephaly, congenital ichthyosis, exoftalmus and generalized edema, but it can be associated to any type of cutaneous and visceral malformations with atrophy or hipoplasia of all the structures of the brain. The survival rate of this illness is six weeks.The present case of a female infant obtained at the “Enrique C. Sotomayor” hospital in Guayaquil. We could observe the presence of congential ichthyosis, One observes skin covered with yellowish, brilliant scaly badge, besides malformations of limbs and ectropion. She lived for six days. The transcranic ecography revealed hipoplasy of the cerebral structures.Conclusions: In most of the cases reported in the medical literature the parents they have been consanguineous.Recommendations: The ultrasonography allows us to obtain the prenatal diagnosis.