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Neu–Laxova syndrome
K. S. Zizyukina,
H. A. Sarkisyan,
Yu. V. Zhirkova,
E. I. Shabelnikova,
D. A. Romanova,
A. P. Khokhlova,
P. A. Fedulova,
I. V. Sokolov,
V. G. Shatalov,
P. V. Shumilov https://doi.org/10.21508/1027-4065-2026-71-2-98-109
Abstract
Neu–Laxova syndrome (Neu–Laxova syndrome 1 — OMIM# 606879, Neu–Laxova syndrome 2 — OMIM# 610936) is a rare genetic disorder with an autosomal recessive type of inheritance, characterized by a high level of pre- and postnatal mortality. Most often, Neu–Laxova syndrome is manifested by a triad that includes fetal growth retardation, multiple congenital malformations and ichthyosiform changes in the skin. The disease belongs to a group of serine-deficiency disorders associated with mutations in the PHGDH, PSAT1 and PSPH genes. Multiorgan damage, recurrent infectious process with the development of pancytopenic syndrome are the most common causes of early infant death. Accumulated experience proves the effectiveness of serine replacement therapy, especially when started in the prenatal period. Description of the features of antenatal diagnostics, postnatal course of Neu–Laxova syndrome and expansion of awareness of specialists about the disease can contribute to early diagnosis and initiation of targeted treatment. The article presents a literature review and description of a fatal clinical case of a child with diagnosis of Neu–Laxova syndrome type 2.
About the Authors
K. S. Zizyukina
Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
117513, Moscow
H. A. Sarkisyan
Pirogov Russian National Research Medical University ; Speransky Children’s City Clinical Hospital No. 9
Russian Federation
Russian Federation
117513, Moscow
123317, Moscow
Yu. V. Zhirkova
Pirogov Russian National Research Medical University ; Speransky Children’s City Clinical Hospital No. 9
Russian Federation
Russian Federation
117513, Moscow
123317, Moscow
E. I. Shabelnikova
Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
117513, Moscow
D. A. Romanova
Speransky Children’s City Clinical Hospital No. 9
Russian Federation
Russian Federation
123317, Moscow
A. P. Khokhlova
Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
117513, Moscow
P. A. Fedulova
Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
117513, Moscow
I. V. Sokolov
Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
117513, Moscow
V. G. Shatalov
Speransky Children’s City Clinical Hospital No. 9
Russian Federation
Russian Federation
123317, Moscow
P. V. Shumilov
Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
117513, Moscow
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For citations:
Zizyukina K.S., Sarkisyan H.A., Zhirkova Yu.V., Shabelnikova E.I., Romanova D.A., Khokhlova A.P., Fedulova P.A., Sokolov I.V., Shatalov V.G., Shumilov P.V. Neu–Laxova syndrome. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2026;71(2):98-109. (In Russ.) https://doi.org/10.21508/1027-4065-2026-71-2-98-109
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