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Spontaneous endogenous hypermelatoninemia: a new disease?
Ozgur Duman1, Erdem Durmaz, Sema Akcurin
1Department of Pediatric Neurology, Faculty of Medicine, Akdeniz University, Antalya, Turkey.
Hormone Research in Paediatrics
|November 3, 2010
Summary
This study reports the first case of spontaneous endogenous hypermelatoninemia in a child with Shapiro's syndrome. The condition, characterized by high melatonin levels, was successfully managed with phototherapy and propranolol.
Area of Science:
- Endocrinology
- Neuroscience
- Sleep Medicine
Background:
- Melatonin, a hormone regulating circadian rhythms, is known to cause hypermelatoninemia when supplemented.
- Spontaneous endogenous hypermelatoninemia has not been previously documented.
Observation:
- A 6-year-old girl with Shapiro's syndrome presented with daily episodes of altered consciousness, syncope, hypothermia, and profuse sweating during sleep.
- These episodes were associated with significantly elevated endogenous melatonin levels (hypermelatoninemia).
Findings:
- The patient exhibited hypermelatoninemia (>1,000 pg/ml) during symptomatic episodes.
- Phototherapy reduced episode duration, and propranolol treatment was successful.
- This is the first reported case of hypermelatoninemia without identifiable organic pathology.
Implications:
- Hypermelatoninemia should be considered in patients presenting with spontaneous periodic hypothermia and hyperhidrosis.
- The findings suggest a potential link between Shapiro's syndrome and dysregulation of melatonin production.
- Further research may elucidate the mechanisms involving the suprachiasmatic nucleus and pinealocytes in spontaneous hypermelatoninemia.
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