Netherton Syndrome in a Neonate with Possible Growth Hormone Deficiency and Transient Hyperaldosteronism
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 gr...
Saved in:
| Main Authors: | , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2015-01-01
|
| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2015/818961 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849309062392446976 |
|---|---|
| author | Chatziioannidis Ilias Babatseva Evgenia Patsatsi Aikaterini Galli-Tsinopoulou Asimina Sarri Constantina Lithoxopoulou Maria Mitsiakos George Karagianni Paraskevi Tsakalidis Christos Mamuris Zissis Nikolaidis Nikolaos |
| author_facet | Chatziioannidis Ilias Babatseva Evgenia Patsatsi Aikaterini Galli-Tsinopoulou Asimina Sarri Constantina Lithoxopoulou Maria Mitsiakos George Karagianni Paraskevi Tsakalidis Christos Mamuris Zissis Nikolaidis Nikolaos |
| author_sort | Chatziioannidis Ilias |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-06559e1b2f1d4304856d1fbc78720a8a |
| institution | Kabale University |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2015-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-06559e1b2f1d4304856d1fbc78720a8a2025-08-20T03:54:16ZengWileyCase Reports in Pediatrics2090-68032090-68112015-01-01201510.1155/2015/818961818961Netherton Syndrome in a Neonate with Possible Growth Hormone Deficiency and Transient HyperaldosteronismChatziioannidis Ilias0Babatseva Evgenia1Patsatsi Aikaterini2Galli-Tsinopoulou Asimina3Sarri Constantina4Lithoxopoulou Maria5Mitsiakos George6Karagianni Paraskevi7Tsakalidis Christos8Mamuris Zissis9Nikolaidis Nikolaos102nd Neonatal Intensive Care Unit, G.P.N. Papageorgiou Hospital, Aristotle University Faculty of Medicine, Agias Triados 3B Street, Pefka, 57010 Thessaloniki, Greece2nd Neonatal Intensive Care Unit, G.P.N. Papageorgiou Hospital, Aristotle University Faculty of Medicine, Agias Triados 3B Street, Pefka, 57010 Thessaloniki, Greece2nd Dermatology Department, G.P.N. Papageorgiou Hospital, Aristotle University Faculty of Medicine, Thessaloniki, Greece4th Department of Pediatrics, G.P.N. Papageorgiou Hospital, Aristotle University Faculty of Medicine, Thessaloniki, GreeceLaboratory of Genetics, Evolutionary & Comparative Biology, Biochemistry & Biotechnology Department, University of Thessaly, Larissa, Greece2nd Neonatal Intensive Care Unit, G.P.N. Papageorgiou Hospital, Aristotle University Faculty of Medicine, Agias Triados 3B Street, Pefka, 57010 Thessaloniki, Greece2nd Neonatal Intensive Care Unit, G.P.N. Papageorgiou Hospital, Aristotle University Faculty of Medicine, Agias Triados 3B Street, Pefka, 57010 Thessaloniki, Greece2nd Neonatal Intensive Care Unit, G.P.N. Papageorgiou Hospital, Aristotle University Faculty of Medicine, Agias Triados 3B Street, Pefka, 57010 Thessaloniki, Greece2nd Neonatal Intensive Care Unit, G.P.N. Papageorgiou Hospital, Aristotle University Faculty of Medicine, Agias Triados 3B Street, Pefka, 57010 Thessaloniki, GreeceLaboratory of Genetics, Evolutionary & Comparative Biology, Biochemistry & Biotechnology Department, University of Thessaly, Larissa, Greece2nd Neonatal Intensive Care Unit, G.P.N. Papageorgiou Hospital, Aristotle University Faculty of Medicine, Agias Triados 3B Street, Pefka, 57010 Thessaloniki, GreeceNetherton 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.http://dx.doi.org/10.1155/2015/818961 |
| spellingShingle | Chatziioannidis Ilias Babatseva Evgenia Patsatsi Aikaterini Galli-Tsinopoulou Asimina Sarri Constantina Lithoxopoulou Maria Mitsiakos George Karagianni Paraskevi Tsakalidis Christos Mamuris Zissis Nikolaidis Nikolaos Netherton Syndrome in a Neonate with Possible Growth Hormone Deficiency and Transient Hyperaldosteronism Case Reports in Pediatrics |
| title | Netherton Syndrome in a Neonate with Possible Growth Hormone Deficiency and Transient Hyperaldosteronism |
| title_full | Netherton Syndrome in a Neonate with Possible Growth Hormone Deficiency and Transient Hyperaldosteronism |
| title_fullStr | Netherton Syndrome in a Neonate with Possible Growth Hormone Deficiency and Transient Hyperaldosteronism |
| title_full_unstemmed | Netherton Syndrome in a Neonate with Possible Growth Hormone Deficiency and Transient Hyperaldosteronism |
| title_short | Netherton Syndrome in a Neonate with Possible Growth Hormone Deficiency and Transient Hyperaldosteronism |
| title_sort | netherton syndrome in a neonate with possible growth hormone deficiency and transient hyperaldosteronism |
| url | http://dx.doi.org/10.1155/2015/818961 |
| work_keys_str_mv | AT chatziioannidisilias nethertonsyndromeinaneonatewithpossiblegrowthhormonedeficiencyandtransienthyperaldosteronism AT babatsevaevgenia nethertonsyndromeinaneonatewithpossiblegrowthhormonedeficiencyandtransienthyperaldosteronism AT patsatsiaikaterini nethertonsyndromeinaneonatewithpossiblegrowthhormonedeficiencyandtransienthyperaldosteronism AT gallitsinopoulouasimina nethertonsyndromeinaneonatewithpossiblegrowthhormonedeficiencyandtransienthyperaldosteronism AT sarriconstantina nethertonsyndromeinaneonatewithpossiblegrowthhormonedeficiencyandtransienthyperaldosteronism AT lithoxopouloumaria nethertonsyndromeinaneonatewithpossiblegrowthhormonedeficiencyandtransienthyperaldosteronism AT mitsiakosgeorge nethertonsyndromeinaneonatewithpossiblegrowthhormonedeficiencyandtransienthyperaldosteronism AT karagianniparaskevi nethertonsyndromeinaneonatewithpossiblegrowthhormonedeficiencyandtransienthyperaldosteronism AT tsakalidischristos nethertonsyndromeinaneonatewithpossiblegrowthhormonedeficiencyandtransienthyperaldosteronism AT mamuriszissis nethertonsyndromeinaneonatewithpossiblegrowthhormonedeficiencyandtransienthyperaldosteronism AT nikolaidisnikolaos nethertonsyndromeinaneonatewithpossiblegrowthhormonedeficiencyandtransienthyperaldosteronism |