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Profound hypernatremia due to central diabetes insipidus
Abeer Vaqar1, Asim Rafiq, Khalid Hussain Javaid
1Department of Paediatrics, KRL Hospital, Kahuta. abeerhaq@hotmail.com
Summary
Diagnosing diabetes insipidus in infants is challenging due to difficulty recognizing polyuria. This case highlights the importance of urine quantification for identifying this rare pediatric endocrine disorder.
Area of Science:
- Pediatric Endocrinology
- Neonatal Medicine
- Rare Diseases
Background:
- Diabetes insipidus (DI) is a rare endocrine disorder characterized by polyuria.
- Recognizing polyuria in diapered infants is clinically challenging.
- Early diagnosis is crucial for managing life-threatening complications like hypernatremia.
Observation:
- A 4-month-old infant presented with severe hypernatremia after vomiting and reduced oral intake.
- Profound hypernatremia persisted despite initial stabilization.
- Maternal unawareness of significant polyuria was noted.
Findings:
- Twenty-four-hour urine output measurement revealed unrecognized polyuria.
- Laboratory investigations confirmed diabetes insipidus, with central DI indicated by serum and urine osmolality.
- Neuroimaging identified holoprosencephaly, suggesting a potential underlying cause.
Implications:
- This case underscores the critical role of meticulous urine output measurement in diagnosing DI in infants.
- Prompt recognition and management of DI are essential to prevent severe hypernatremia and other complications.
- Holoprosencephaly may be associated with central DI in pediatric cases.
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