Hypernatremia in a Sleepy 2-Month-Old With Mention of Abnormal Eye Movements.

Autor: Frazier SB; From the Department of Pediatrics., Fitzgerald NM
Jazyk: angličtina
Zdroj: Pediatric emergency care [Pediatr Emerg Care] 2021 Dec 01; Vol. 37 (12), pp. e877-e878.
DOI: 10.1097/PEC.0000000000001791
Abstrakt: Abstract: Septo-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.
Competing Interests: Disclosure: The authors declare no conflict of interest.
(Copyright © 2019 Wolters Kluwer Health, Inc. All rights reserved.)
Databáze: MEDLINE