Remission of congenital diabetes insipidus after eight years.
Septo-optic dysplasia (SOD) (De Morsier's syndrome) is a complex developmental disorder marked by variable and often incomplete formation of cranial midline structures, resulting in absence of the septum pellucidum, optic nerve hypoplasia, and hypothalamic-pituitary dysfunction. We describe a patient with SOD who manifested symptoms in the early neonatal period with severe deficiencies of multiple pituitary hormones including anti-diuretic hormone (ADH). Her congenital diabetic insipidus (DI), consequence of an anatomic defect, can be argued to be of the most severe type. Our patient resolved her severe DI 8 years after her initial presentation, suddenly requiring no further medical treatment for DI following longstanding pharmacological replacement of ADH. This is the first report of a patient with SOD with spontaneous resolution of congenital DI.
Department of Pediatrics, Division of Endocrinology, Children's Hospital & Regional Medical Center, University of Washington, Seattle, WA 98105,USA. chiuh@u.washington.edu
Harvey K
HK
Chiu
Gad B
GB
Kletter
D002648:Child; D003919:Diabetes Insipidus / Q000151:congenital / Q000188:drug therapy* / Q000503:physiopathology*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D010904:Pituitary Gland, Posterior / Q000002:abnormalities / Q000473:pathology; D012075:Remission, Spontaneous; D025962:Septo-Optic Dysplasia / Q000151:congenital / Q000473:pathology / Q000503:physiopathology*; D014667:Vasopressins / Q000627:therapeutic use*
D014667:Vasopressins