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Idiopathic hypothalamic dysfunction with dilated unresponsive pupils: report of two cases
K N North1, R A Ouvrier, C A McLean
1Department of Neurology, Children's Hospital, Camperdown, Sydney, Australia.
Insights
Idiopathic hypothalamic dysfunction in children presents with symptoms like dehydration and obesity. Unique cases showed dilated pupils, with one revealing hypothalamic inflammation at autopsy, suggesting potential causes for this rare condition.
Area of Science:
- Pediatric Endocrinology
- Neuroscience
- Rare Diseases
Background:
- Idiopathic hypothalamic dysfunction (IHD) is a rare childhood disorder.
- Characterized by adipsia-hypernatremia, obesity, poor thermoregulation, and pituitary dysfunction.
- This study reviews 12 cases, including two novel ones.
Observation:
- Two unique cases of IHD presented with bilaterally dilated, unresponsive pupils.
- These pupils were not previously reported in association with IHD.
- Autopsy in one case revealed lymphocytic infiltration and neuronal loss in the hypothalamus and midbrain.
Findings:
- The addition of dilated pupils expands the known clinical spectrum of IHD.
- Autopsy findings provide histopathological evidence for a potential inflammatory or autoimmune etiology.
- Comparison with prior literature highlights the rarity and variability of IHD presentations.
Implications:
- Understanding the histopathology may guide future diagnostic and therapeutic strategies for IHD.
- Further research into the etiology of IHD, particularly autoimmune mechanisms, is warranted.
- Recognition of pupil abnormalities can aid in earlier diagnosis and management of IHD.
Abstract:
Idiopathic hypothalamic dysfunction is a rare but well-defined entity in childhood characterized by adipsia-hypernatremia, obesity, poor thermoregulation, and disturbance of pituitary function. Two cases of idiopathic hypothalamic dysfunction are described. There are 10 previously reported cases in the literature, and the clinical features are compared. The present cases are unique in that the patients also had bilaterally dilated unresponsive pupils. In the first case, there was no demonstrable pathology at autopsy; in the second case, lymphocytic infiltration of the hypothalamus and midbrain associated with neuronal loss was present at autopsy. Possible etiologies are discussed.
