Severe hypernatremic dehydration in an infant with Netherton syndrome

Citation
C. Stoll et al., Severe hypernatremic dehydration in an infant with Netherton syndrome, GEN COUNSEL, 12(3), 2001, pp. 237-243
Citations number
16
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology
Journal title
GENETIC COUNSELING
ISSN journal
1015-8146 → ACNP
Volume
12
Issue
3
Year of publication
2001
Pages
237 - 243
Database
ISI
SICI code
1015-8146(2001)12:3<237:SHDIAI>2.0.ZU;2-N
Abstract
Severe hypernatremic dehydration in an infant with Netherton syndrome: Neth erthon syndrome Is a rare autosomal recessive disease characterized by icht hyosis, the characteristic hair abnormality trichorrhexis invaginata and at opic manifestations. We report a female child with the severe hypernatremic dehydration form of the Netherton syndrome born as the first child of cons anguineous parents. Ichthyosis was present at birth. She was admitted to th e Intensive care unit at the age of 4 days with important loss of weight an d dehydration. Severe hypernatremia and convulsions occurred. Despite inten sive care the baby died at the age of 11 days. The diagnosis of Netherton s yndrome was confirmed by the finding of the pathognomonic hair shaft anomal y, trichorrhexis invaginata (bamboo hair) and premature lamellar body secre tion and foci of electron-dense material in the Intercellular spaces of str atum corneum as relatively specific markers for Netherton syndrome. Nethert on syndrome is characterized by a large variability in phenotypic expressio n. The major neonatal complication Is the hypernatremic dehydration, which can be fatal as In this patient or complicated by neurologic signs (intracr anial hemorrhage) and secondary sequellae. Molecular studies revealed a mut ation In SPINK 5, encoding a serine protease Inhibitor. Prenatal diagnosis was performed in the second pregnancy and showed that the fetus was equally affected.