title: Severe hypernatremic dehydration in an infant with Netherton syndrome.
abstract: Netherthon syndrome is a rare autosomal recessive disease characterized by ichthyosis, the characteristic hair abnormality trichorrhexis invaginata and atopic manifestations. We report a female child with the severe hypernatremic dehydration form of the Netherton syndrome born as the first child of consanguineous parents. Ichthyosis was present at birth. She was admitted to the intensive care unit at the age of 4 days with important loss of weight and dehydration. Severe hypernatremia and convulsions occurred. Despite intensive care the baby died at the age of 11 days. The diagnosis of Netherton syndrome was confirmed by the finding of the pathognomonic hair shaft anomaly trichorrhexis invaginata (bamboo hair) and premature lamellar body secretion and foci of electron-dense material in the intercellular spaces of stratum corneum as relatively specific markers for Netherton syndrome. Netherton syndrome is characterized by a large variability in phenotypic expression. The major neonatal complication is the hypernatremic dehydration, which can be fatal as in this patient or complicated by neurologic signs (intracranial hemorrhage) and secondary sequellae. Molecular studies revealed a mutation in SPINK 5, encoding a serine protease inhibitor. Prenatal diagnosis was performed in the second pregnancy and showed that the fetus was equally affected.
authors.affiliation: Service de Génétique Médicale, Centre Hospitalo-Universitaire, Strasbourg, France. claude.stoll@chru-strasbourg.fr
authors.forename: C
authors.initials: C
authors.lastname: Stoll
authors.forename: Y
authors.initials: Y
authors.lastname: Alembik
authors.forename: D
authors.initials: D
authors.lastname: Tchomakov
authors.forename: J
authors.initials: J
authors.lastname: Messer
authors.forename: E
authors.initials: E
authors.lastname: Heid
authors.forename: N
authors.initials: N
authors.lastname: Boehm
authors.forename: P
authors.initials: P
authors.lastname: Calvas
authors.forename: A
authors.initials: A
authors.lastname: Hovnanian
mesh_terms: D002352:Carrier Proteins; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D003241:Consanguinity; D004252:DNA Mutational Analysis; D003681:Dehydration / Q000235:genetics* / Q000473:pathology; D005260:Female; D006197:Hair / Q000002:abnormalities; D006801:Humans; D006955:Hypernatremia / Q000235:genetics* / Q000473:pathology; D016113:Ichthyosiform Erythroderma, Congenital / Q000235:genetics* / Q000473:pathology; D007231:Infant, Newborn; D053491:Proteinase Inhibitory Proteins, Secretory; D000074163:Serine Peptidase Inhibitor Kazal-Type 5; D015842:Serine Proteinase Inhibitors / Q000235:genetics*; D012867:Skin / Q000473:pathology; D013577:Syndrome
chemical_list: D002352:Carrier Proteins; D053491:Proteinase Inhibitory Proteins, Secretory; C120650:SPINK5 protein, human; D000074163:Serine Peptidase Inhibitor Kazal-Type 5; D015842:Serine Proteinase Inhibitors