title: Netherton Syndrome in a Neonate with Possible Growth Hormone Deficiency and Transient Hyperaldosteronism.
abstract: 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.
authors.affiliation: 2nd Neonatal Intensive Care Unit, G.P.N. Papageorgiou Hospital, Aristotle University Faculty of Medicine, Agias Triados 3B Street, Pefka, 57010 Thessaloniki, Greece.
authors.forename: Chatziioannidis
authors.initials: C
authors.lastname: Ilias
authors.affiliation: 2nd Neonatal Intensive Care Unit, G.P.N. Papageorgiou Hospital, Aristotle University Faculty of Medicine, Agias Triados 3B Street, Pefka, 57010 Thessaloniki, Greece.
authors.forename: Babatseva
authors.initials: B
authors.lastname: Evgenia
authors.affiliation: 2nd Dermatology Department, G.P.N. Papageorgiou Hospital, Aristotle University Faculty of Medicine, Thessaloniki, Greece.
authors.forename: Patsatsi
authors.initials: P
authors.lastname: Aikaterini
authors.affiliation: 4th Department of Pediatrics, G.P.N. Papageorgiou Hospital, Aristotle University Faculty of Medicine, Thessaloniki, Greece.
authors.forename: Galli-Tsinopoulou
authors.initials: GT
authors.lastname: Asimina
authors.affiliation: Laboratory of Genetics, Evolutionary & Comparative Biology, Biochemistry & Biotechnology Department, University of Thessaly, Larissa, Greece.
authors.forename: Sarri
authors.initials: S
authors.lastname: Constantina
authors.affiliation: 2nd Neonatal Intensive Care Unit, G.P.N. Papageorgiou Hospital, Aristotle University Faculty of Medicine, Agias Triados 3B Street, Pefka, 57010 Thessaloniki, Greece.
authors.forename: Lithoxopoulou
authors.initials: L
authors.lastname: Maria
authors.affiliation: 2nd Neonatal Intensive Care Unit, G.P.N. Papageorgiou Hospital, Aristotle University Faculty of Medicine, Agias Triados 3B Street, Pefka, 57010 Thessaloniki, Greece.
authors.forename: Mitsiakos
authors.initials: M
authors.lastname: George
authors.affiliation: 2nd Neonatal Intensive Care Unit, G.P.N. Papageorgiou Hospital, Aristotle University Faculty of Medicine, Agias Triados 3B Street, Pefka, 57010 Thessaloniki, Greece.
authors.forename: Karagianni
authors.initials: K
authors.lastname: Paraskevi
authors.affiliation: 2nd Neonatal Intensive Care Unit, G.P.N. Papageorgiou Hospital, Aristotle University Faculty of Medicine, Agias Triados 3B Street, Pefka, 57010 Thessaloniki, Greece.
authors.forename: Tsakalidis
authors.initials: T
authors.lastname: Christos
authors.affiliation: Laboratory of Genetics, Evolutionary & Comparative Biology, Biochemistry & Biotechnology Department, University of Thessaly, Larissa, Greece.
authors.forename: Mamuris
authors.initials: M
authors.lastname: Zissis
authors.affiliation: 2nd Neonatal Intensive Care Unit, G.P.N. Papageorgiou Hospital, Aristotle University Faculty of Medicine, Agias Triados 3B Street, Pefka, 57010 Thessaloniki, Greece.
authors.forename: Nikolaidis
authors.initials: N
authors.lastname: Nikolaos