Abstract

OKULU, Emel et al. Netherton syndrome: A neonatal case with respiratory insufficiency. Arch. argent. pediatr. [online]. 2018, vol.116, n.4, pp.e609-e611. ISSN 0325-0075.  http://dx.doi.org/10.5546/aap.2018.e609.

Netherton syndrome (NS) is a rare, autosomal recessive disease characterized with congenital ichthyosiform erythroderma, hair abnormality and atopic manifestations. This syndrome is caused by recessive mutation in the SPINK5 gene. Disease manifestations vary considerably among NS individuals. We report a newborn presented with severe respiratory insufficiency, hypothermia and erythroderma, was diagnosed as having NS and confirmed with molecular genetic testing.

Keywords : Infant newborn; Netherton syndrome; Respiratory insufficiency.

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