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Pediatric Central Diabetes Insipidus: Brain Malformations Are Common and Few Patients Have Idiopathic Disease.

CONTEXT: Pediatric cohorts of central diabetes insipidus (CDI) have shown varying prevalences for the different causes of CDI, including idiopathic.

OBJECTIVE: The objective of the study was to determine the causes of CDI at a pediatric tertiary care center and to characterize their clinical outcomes.

DESIGN AND SETTING: All patients with CDI at Seattle Children's Hospital were identified and retrospectively analyzed.

PATIENTS: From 2000 to 2013, 147 patients with CDI were encountered (mean age 7 y at diagnosis, mean follow-up 6.2 y).

OUTCOME MEASURES: The different causes of CDI were grouped, and age of diagnosis, anterior pituitary hormone deficiencies (APHDs), and presence of the posterior pituitary bright spot (PPBS) were analyzed. Patients with idiopathic CDI had infundibular thickening measured using a systematic method.

RESULTS: Brain malformations caused 24% of CDI cases, and 12.2% were idiopathic. Four of 22 patients with initially idiopathic CDI were diagnosed with an underlying condition, none occurring later than 2.5 years from diagnosis. APHDs were as common in the brain malformation group as they were in the tumor/infiltrative group (72% vs 85%; P = .09). The PPBS was present in at least 13% of patients and in 19% of those with brain malformations. Patients with idiopathic CDI and stalk thickening on the initial magnetic resonance imaging were more likely to have an underlying diagnosis (40% vs 0%; P = .03).

CONCLUSIONS: Brain malformations were a more common cause of pediatric CDI than previously reported. These patients have a high rate of APHDs, and many have persistence of the PPBS. Idiopathic CDI is an uncommon diagnosis, and none of our patients were diagnosed with Langerhans cell histiocytosis or germinoma for more than 3 years from CDI diagnosis. Providers can consider less frequent magnetic resonance imaging after this time point. A systematic method of infundibular measurement on the initial magnetic resonance imaging may predict an underlying germinoma or Langerhans cell histiocytosis.

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