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[Neu-Laxova syndrome: Three case reports and a review of the literature].
Ann Pathol. 2016 Aug; 36(4):235-44.AP

Abstract

INTRODUCTION

The Neu-Laxova syndrome (NLS) is a rare autosomal recessive and early lethal disorder. It is characterized by severe intra-uterine growth retardation, abnormal facial features, ichthyotic skin lesions and severe central nervous system malformations, especially microlissencephaly. Others characteristic features associated with fetal hypokinesia sequence, including arthrogryposis, subcutaneous edema and pulmonary hypoplasia, are frequently reported in NLS.

PATIENTS AND METHODS

The clinicopathological characteristics of NLS are described in three cases with striking prenatal diagnostic findings and detailed post-mortem examinations. A review of the literature is undertaken with a focus on molecular basis.

RESULTS

We present three new patients with NLS: one stillbirth male and two female newborns, delivered at 29, 35 and 40 weeks of gestational age, respectively. Characteristic ultrasound findings included hydramnios, severe intra-uterine growth restriction, craniofacial and cental nervous system anomalies. The cytogenetic study, performed in one case, was normal. The post-mortem examination revealed characteristic abnormalities in all three cases, that allowed to make a prompt diagnosis of the NLS. Data from these patients suggest that the NLS represents a heterogeneous phenotype. This feature has been highlighted in the literature.

CONCLUSION

The SNL is a lethal developmental disorder characterized by phenotypic heterogeneity with striking neurological defects. It is underpinned by genetic heterogeneity. It can be caused by mutations in all three genes involved in de novo L-serine biosynthesis: PHGDH, PSAT1 and PSPH. Hence, the NLS constitutes the most severe end of already known human disease, i.e. serine-deficiency disorder.

Authors+Show Affiliations

Unité de fœtopathologie, hôpital universitaire Habib-Bougatfa, 7000 Bizerte, Tunisie. Electronic address: sihem.darouich@free.fr.Service d'anatomie et de cytologie pathologiques, institut Salah-Azaiez, 1007 Tunis, Tunisie.Service de gynéco-obstétrique C, centre de maternité et de néonatologie, 1007 Tunis, Tunisie.Service de gynéco-obstétrique C, centre de maternité et de néonatologie, 1007 Tunis, Tunisie.Service de gynéco-obstétrique B, centre de maternité et de néonatologie, 1007 Tunis, Tunisie.Service d'embryo-fœtopathologie, centre de maternité et de néonatologie, 1007 Tunis, Tunisie.Service d'embryo-fœtopathologie, centre de maternité et de néonatologie, 1007 Tunis, Tunisie.

Pub Type(s)

Case Reports
Journal Article
Review

Language

fre

PubMed ID

27475004

Citation

Darouich, Sihem, et al. "[Neu-Laxova Syndrome: Three Case Reports and a Review of the Literature]." Annales De Pathologie, vol. 36, no. 4, 2016, pp. 235-44.
Darouich S, Boujelbene N, Kehila M, et al. [Neu-Laxova syndrome: Three case reports and a review of the literature]. Ann Pathol. 2016;36(4):235-44.
Darouich, S., Boujelbene, N., Kehila, M., Chanoufi, M. B., Reziga, H., Gaigi, S., & Masmoudi, A. (2016). [Neu-Laxova syndrome: Three case reports and a review of the literature]. Annales De Pathologie, 36(4), 235-44. https://doi.org/10.1016/j.annpat.2016.04.004
Darouich S, et al. [Neu-Laxova Syndrome: Three Case Reports and a Review of the Literature]. Ann Pathol. 2016;36(4):235-44. PubMed PMID: 27475004.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Neu-Laxova syndrome: Three case reports and a review of the literature]. AU - Darouich,Sihem, AU - Boujelbene,Nadia, AU - Kehila,Mehdi, AU - Chanoufi,Mohamed Badis, AU - Reziga,Hédi, AU - Gaigi,Soumeya, AU - Masmoudi,Aida, Y1 - 2016/07/27/ PY - 2015/12/21/received PY - 2016/04/14/revised PY - 2016/04/20/accepted PY - 2016/8/1/entrez PY - 2016/8/1/pubmed PY - 2017/10/17/medline KW - Diagnostic prénatal KW - Fœtopathologie KW - Fœtopathology KW - Interruption médicale de la grossesse KW - Neu-Laxova syndrome KW - Pregnancy abortion KW - Prenatal diagnosis KW - Serine KW - Syndrome de Neu-Laxova KW - Sérine SP - 235 EP - 44 JF - Annales de pathologie JO - Ann Pathol VL - 36 IS - 4 N2 - INTRODUCTION: The Neu-Laxova syndrome (NLS) is a rare autosomal recessive and early lethal disorder. It is characterized by severe intra-uterine growth retardation, abnormal facial features, ichthyotic skin lesions and severe central nervous system malformations, especially microlissencephaly. Others characteristic features associated with fetal hypokinesia sequence, including arthrogryposis, subcutaneous edema and pulmonary hypoplasia, are frequently reported in NLS. PATIENTS AND METHODS: The clinicopathological characteristics of NLS are described in three cases with striking prenatal diagnostic findings and detailed post-mortem examinations. A review of the literature is undertaken with a focus on molecular basis. RESULTS: We present three new patients with NLS: one stillbirth male and two female newborns, delivered at 29, 35 and 40 weeks of gestational age, respectively. Characteristic ultrasound findings included hydramnios, severe intra-uterine growth restriction, craniofacial and cental nervous system anomalies. The cytogenetic study, performed in one case, was normal. The post-mortem examination revealed characteristic abnormalities in all three cases, that allowed to make a prompt diagnosis of the NLS. Data from these patients suggest that the NLS represents a heterogeneous phenotype. This feature has been highlighted in the literature. CONCLUSION: The SNL is a lethal developmental disorder characterized by phenotypic heterogeneity with striking neurological defects. It is underpinned by genetic heterogeneity. It can be caused by mutations in all three genes involved in de novo L-serine biosynthesis: PHGDH, PSAT1 and PSPH. Hence, the NLS constitutes the most severe end of already known human disease, i.e. serine-deficiency disorder. SN - 0242-6498 UR - https://www.unboundmedicine.com/medline/citation/27475004/[Neu_Laxova_syndrome:_Three_case_reports_and_a_review_of_the_literature]_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0242-6498(16)30031-1 DB - PRIME DP - Unbound Medicine ER -