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Pediatric emergency care · Dec 2021
Case ReportsHypernatremia in a Sleepy 2-Month-Old With Mention of Abnormal Eye Movements.
- Steven Barron Frazier and Nina M Fitzgerald.
- From the Department of Pediatrics.
- Pediatr Emerg Care. 2021 Dec 1; 37 (12): e877e878e877-e878.
AbstractSepto-optic dysplasia is a rare congenital heterogeneous malformation comprising at least 2 components of the triad: optic nerve hypoplasia, pituitary hormone abnormalities, and midline brain defects. We report a 2-month-old girl who presented with hypernatremia, constipation, and increased sleepiness with mother's recent appreciation of abnormal eye movements. We discuss the diagnosis and management of this patient who avoided significant morbidity by prompt diagnosis based initially on clinical suspicion. This case report emphasizes that thorough laboratory and physical evaluation of similar cases as presentation can vary considerably based on degree of pituitary dysfunction. Because of this variable presentation, diagnosis is typically delayed in otherwise healthy appearing infants early in their course of illness. To our knowledge, this is the first emergency medicine case report to discuss this diagnosis.Copyright © 2019 Wolters Kluwer Health, Inc. All rights reserved.
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