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Netherton Syndrome in a Neonate with Possible Growth Hormone Deficiency and Transient Hyperaldosteronism
Joint Authors
Galli-Tsinopoulou, Assimina
Chatziioannidis, Ilias
Babatseva, Evgenia
Sarri, Constantina
Lithoxopoulou, Maria
Mitsiakos, George
Karagianni, Paraskevi
Tsakalidis, Christos
Mamuris, Zissis
Nikolaidis, Nikolaos
Patsatsi, Aikaterini
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-07-01
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Chatziioannidis, Ilias& Babatseva, Evgenia& Patsatsi, Aikaterini& Galli-Tsinopoulou, Assimina& Sarri, Constantina& Lithoxopoulou, Maria…[et al.]. 2015. Netherton Syndrome in a Neonate with Possible Growth Hormone Deficiency and Transient Hyperaldosteronism. Case Reports in Pediatrics،Vol. 2015, no. 2015, pp.1-4.
https://search.emarefa.net/detail/BIM-1059808
Modern Language Association (MLA)
Chatziioannidis, Ilias…[et al.]. Netherton Syndrome in a Neonate with Possible Growth Hormone Deficiency and Transient Hyperaldosteronism. Case Reports in Pediatrics No. 2015 (2015), pp.1-4.
https://search.emarefa.net/detail/BIM-1059808
American Medical Association (AMA)
Chatziioannidis, Ilias& Babatseva, Evgenia& Patsatsi, Aikaterini& Galli-Tsinopoulou, Assimina& Sarri, Constantina& Lithoxopoulou, Maria…[et al.]. Netherton Syndrome in a Neonate with Possible Growth Hormone Deficiency and Transient Hyperaldosteronism. Case Reports in Pediatrics. 2015. Vol. 2015, no. 2015, pp.1-4.
https://search.emarefa.net/detail/BIM-1059808
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1059808