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Clinical science
Scientific reports
Infantile infection and diabetes insipidus in children with optic nerve hypoplasia
  1. S P Donahue1,2,3,
  2. A Lavina1,
  3. J Najjar3
  1. 1Department of Ophthalmology and Visual Sciences, Vanderbilt University School of Medicine, Nashville, TN, USA
  2. 2Department of Neurology, Vanderbilt University School of Medicine, Nashville, TN, USA
  3. 3Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN, USA
  1. Correspondence to: Sean P Donahue MD, PhD, Department of Ophthalmology and Visual Sciences, Vanderbilt University School of Medicine, 8000 Medical Center East, Nashville, TN 37232-8808, USA; sean.donahuevanderbilt.edu

Abstract

Background: Bilateral optic nerve hypoplasia (BONH) is often associated with other central nervous system midline abnormalities (septo-optic dysplasia). Hormonal dysfunction, caused by anterior (cortisol) and posterior (ADH) pituitary involvement, can be sudden, severe, and life threatening.

Methods: Case series. Three cases of septo-optic dysplasia (SOD) presenting as infantile infection with associated diabetes insipidus are reported. The diagnosis of SOD was suspected only after ophthalmological evaluation; further evaluation led to the diagnosis of panhypopituitarism.

Conclusions: A high index of suspicion is required to diagnose SOD in children when the disorder presents with infantile infection and hypernatraemia. Early warning signs of neonatal jaundice and hypoglycaemia should prompt ophthalmological evaluation.

  • ACTH, adrenocorticotrophic hormone
  • BONH, bilateral optic nerve hypoplasia
  • SOD, septo-optic dysplasia
  • diabetes insipidus
  • optic nerve hypoplasia
  • septo-optic dysplasia
  • hypopituitarism
  • ACTH, adrenocorticotrophic hormone
  • BONH, bilateral optic nerve hypoplasia
  • SOD, septo-optic dysplasia
  • diabetes insipidus
  • optic nerve hypoplasia
  • septo-optic dysplasia
  • hypopituitarism

https://doi.org/10.1136/bjo.2005.069609

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    Footnotes

    • Support: In part by an unrestricted grant from Research to Prevent Blindness (RPB), New York, NY to the Vanderbilt University Department of Ophthalmology. Dr Donahue was the recipient of a Career Development Award from Research to Prevent (RPB), New York, USA.

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