Central diabetes insipidus in children as a diagnostic challenge – analysis of different clinical pictures and review of the literature

Abstract

Abstract Background: Central diabetes insipidus (CDI) is a rare disorder in the pediatric population resulting from antidiuretic hormone (ADH) deficiency and caused by several underlying conditions. It is characterized by the excessive production of dilute urine and manifests with polyuria, nocturia, and polydipsia. An appropriate investigation requires a detailed medical history, physical examination, biochemical evaluation (including fluid deprivation test, potentially followed by desmopressin test), and neuroimaging. The diagnosis of CDI is often challenging, especially the underlying condition. The patients sometimes need long-term follow-up to establish the proper final diagnosis. This paper highlights the diverse clinical presentation of children with CDI, diagnostic difficulties among patients presenting with polyuria and polydipsia, and the need for an individual approach in each case. The article also reviews the etiology, symptoms, diagnostic work-up, and management of CDI. Case Presentation: We present four pediatric patients (aged 3-13.5 years) diagnosed with CDI of different etiology; one due to congenital anomaly - septo-optic-dysplasia (SOD) and three due to acquired processes such as Langerhans cell histiocytosis (LCH) and germ cell tumor (GCT) in two patients. Conclusions: CDI was the first manifestation of a tumor or granuloma in all presented patients with acquired pathology. Due to the presented course of illness, it may be concluded, the coexistence of other pituitary hormone deficiencies at initially recognized idiopathic CDI should suggest a more complicated diagnostically problem. Case with a delayed diagnosis with SOD at the age of 13.5 years and case with GCT, where from the CDI diagnosis to the occurrence of pathological change in pituitary stalk 1.5 years have passed, highlight the need for a high clinical suspicion in patients with CDI.