Severe Hypernatremia as Presentation of Netherton Syndrome
November 2023
in “
Global Medical Genetics
”
Netherton syndrome is a rare genetic disorder marked by congenital ichthyosis, immune dysregulation, and scalp anomalies. A 1-month-old male with severe hypernatremia (186 mg/dL) and failure to thrive was diagnosed with Netherton syndrome, confirmed by the presence of "invaginated trichuriasis." The condition results from a mutation in the SPINK5 gene, leading to a loss of LEKTI protein and severe skin barrier defects. Early life complications include hypernatremic dehydration, severe infections, and growth retardation.