The diagnosis of children with central diabetes insipidus

J Pediatr Endocrinol Metab. 2007 Mar;20(3):359-75. doi: 10.1515/jpem.2007.20.3.359.

Abstract

Central diabetes insipidus is the end result of a number of different diseases that affect the hypothalamic-neurohypophyseal system. In many patients, especially children and young adults, it is caused by the destruction or degeneration of neurons that originate in the supraoptic and paraventricular nuclei of the hypothalamus. The known causes of these lesions include germinoma or craniopharyngioma; Langerhans cell histiocytosis; local inflammatory, autoimmune or vascular diseases; trauma resulting from surgery or an accident; sarcoidosis; metastases; and midline cerebral and cranial malformations. In rare cases, genetic defects in AVP synthesis that are inherited as autosomal dominant, autosomal recessive or X-linked recessive traits are the underlying cause. Accurate diagnostic differentiation is essential for both safe and effective disease management. Proper etiological diagnosis can be achieved via a series of steps that start with clinical observations and then progress, as needed, to more sophisticated methods. Indeed, magnetic resonance imaging (MRI) represents the examination method of choice for evaluating hypothalamic-pituitary-related endocrine diseases due to its ability to provide strongly-contrasted high-resolution multi-planar and spatial images. Specifically, MRI allows a detailed and precise anatomical study of the pituitary gland by differentiating between the anterior and posterior pituitary lobes. MRI identification of pituitary hyperintensity in the posterior part of the sella, now considered to be a clear marker of neurohypophyseal functional integrity, together with careful analysis of pituitary stalk shape and size, have provided the most striking recent findings contributing to the diagnosis and understanding of some forms of 'idiopathic' central diabetes insipidus.

Publication types

  • Review

MeSH terms

  • Brain Neoplasms / complications
  • Brain Neoplasms / genetics
  • Brain Neoplasms / pathology*
  • Child
  • Craniopharyngioma / complications
  • Craniopharyngioma / genetics
  • Craniopharyngioma / pathology*
  • Diabetes Insipidus, Neurogenic / etiology
  • Diabetes Insipidus, Neurogenic / genetics
  • Diabetes Insipidus, Neurogenic / pathology*
  • Germinoma / complications
  • Germinoma / genetics
  • Germinoma / pathology*
  • Humans
  • Magnetic Resonance Imaging*