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Case Reports in Pediatrics
Volume 2015, Article ID 818961, 4 pages
Case Report

Netherton Syndrome in a Neonate with Possible Growth Hormone Deficiency and Transient Hyperaldosteronism

12nd Neonatal Intensive Care Unit, G.P.N. Papageorgiou Hospital, Aristotle University Faculty of Medicine, Agias Triados 3B Street, Pefka, 57010 Thessaloniki, Greece
22nd Dermatology Department, G.P.N. Papageorgiou Hospital, Aristotle University Faculty of Medicine, Thessaloniki, Greece
34th Department of Pediatrics, G.P.N. Papageorgiou Hospital, Aristotle University Faculty of Medicine, Thessaloniki, Greece
4Laboratory of Genetics, Evolutionary & Comparative Biology, Biochemistry & Biotechnology Department, University of Thessaly, Larissa, Greece

Received 7 March 2015; Revised 24 May 2015; Accepted 26 May 2015

Academic Editor: Pietro Strisciuglio

Copyright © 2015 Chatziioannidis Ilias et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Netherton syndrome, a rare autosomal recessive genetic disorder, is classified as an ichthyosiform syndrome. In this report we present the case of a neonate with erythroderma shortly after birth, accompanied by severe hypernatremia, recurrent infections, transient hyperaldosteronism, and signs of growth hormone (GH) deficiency. DNA molecular analysis in the SPINK5 gene revealed heterozygosity in our index patient for 238insG and 2468delA frameshift mutations in exons 4 and 26, respectively, in the maternal allele and 1431-12G>A splice-site mutation in intron 15 in the paternal allele as well as the missense variation E420K in homozygous state. Combination of the identified mutations along with transient hyperaldosteronism and possible GH deficiency have not been described before. Accordingly, the importance of early multidisciplinary approach is highlighted, in order to reach accurate diagnosis, initiate prompt treatment, and ensure survival with fewer disease complications.