title: Central diabetes insipidus as the inaugural manifestation of Langerhans cell histiocytosis: natural history and medical evaluation of 26 children and adolescents.
abstract: BACKGROUND
  Isolated central diabetes insipidus (CDI) can be the first manifestation of Langerhans cell histiocytosis (LCH), creating diagnostic dilemmas such as dysgerminoma and other inflammatory lesions.
  
  
  METHODS
  In 2010, the French national LCH registry had enrolled 1236 LCH patients under 18 yr of age. Isolated CDI was the initial presentation of LCH in 26 patients. We reviewed their clinical and magnetic resonance imaging (MRI) features.
  
  
  RESULTS
  Median age at the diagnosis of CDI was 9.6 yr (1.8-16.3), and median follow-up after CDI diagnosis was 9.9 yr (3.5-26.6). In addition to CDI, two patients had visual field defects, four had secondary amenorrhea, and 11 had anterior pituitary deficiency. Cerebral imaging (including computed tomography in two cases), performed in 22 patients within 3 months of CDI diagnosis, showed pituitary stalk thickening in 14 patients, which was moderate (3.0-7 mm) in nine cases and marked (>7 mm) in five cases. In eight cases, the lesion extended to the floor of the third ventricle. One child with LCH presented with a mild enlarged sellar content. During follow-up, 22 patients developed extrapituitary involvement, mainly of bone (n = 15), lung (n = 9), and skin (n = 9). Pituitary biopsy was performed in eight cases and was conclusive in six cases.
  
  
  CONCLUSIONS
  Pituitary stalk thickening can be observed in LCH as well as lesions extending to the floor of the third ventricle. In all cases but one, the intrasellar content was not enlarged. Long-term follow-up with close attention to bone, skin, and lung disorders may lead to the diagnosis of LCH.
authors.affiliation: Service d'Endocrinologie Pédiatrique, Hôpital Necker Enfants Malades, 149 rue de Sèvres, 75015 Paris, France.
authors.forename: Isis
authors.initials: I
authors.lastname: Marchand
authors.forename: Mohamed Aziz
authors.initials: MA
authors.lastname: Barkaoui
authors.forename: Catherine
authors.initials: C
authors.lastname: Garel
authors.forename: Michel
authors.initials: M
authors.lastname: Polak
authors.forename: Jean
authors.initials: J
authors.lastname: Donadieu
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D020790:Diabetes Insipidus, Neurogenic / Q000209:etiology* / Q000473:pathology; D005260:Female; D005500:Follow-Up Studies; D006646:Histiocytosis, Langerhans-Cell / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D007801:Langerhans Cells / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D010902:Pituitary Gland / Q000473:pathology*