Malnutrition and hypernatremic dehydration as the initial presentation of nephrogenic diabetes insipidus in an infant.
Micaela Valdez, María A Quiroga Viola, Rosario Flores et al.
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Case in brief
A 3-month-old infant presented after approximately 2 months of episodic fever, irritability, and poor growth. Examination showed severe malnutrition and dehydration, with hypernatremia. Congenital nephrogenic diabetes insipidus was diagnosed using vasopressin levels, plasma and urine osmolarity, and family history. Treatment was challenging, but the infant improved and remained under outpatient follow-up.
What made this case unusual
The disorder first came to attention through severe malnutrition and dehydration in a young infant, rather than a presentation described primarily in terms of polyuria and polydipsia.
Diagnostic / clinical pearl
In an infant with poor growth and severe dehydration, hypernatremia and plasma–urine osmolarity findings, interpreted alongside vasopressin levels and family history, can support diagnosis of congenital nephrogenic diabetes insipidus.