Abstract
Smith-Magenis syndrome (SMS) is a multiple congenital anomaly syndrome characterized by an interstitial deletion of chromosome 17p11.2. Sleep problems such as nocturnal awakening and abnormality in the percentage of rapid eye movement (REM) sleep are frequently observed in patients with SMS, and several medications have been administered to improve the sleep disorders. Here we present a female case of SMS showing early waking and reduction of REM sleep, which were corrected by human growth hormone (GH) replacement for her dwarfism. Also, we report changes in the sleep-wakefulness circadian rhythm and polysomnographical data before and after the start of human GH replacement. It is speculated that GH deficiency could be involved in sleep disturbance in SMS.
MeSH terms
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Abnormalities, Multiple / drug therapy*
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Abnormalities, Multiple / genetics
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Abnormalities, Multiple / physiopathology
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Child, Preschool
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Chromosome Deletion
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Chromosome Disorders / drug therapy*
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Chromosome Disorders / genetics
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Chromosome Disorders / physiopathology
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Chromosomes, Human, Pair 17 / genetics*
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Dwarfism, Pituitary / drug therapy
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Dwarfism, Pituitary / genetics
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Dwarfism, Pituitary / physiopathology
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Female
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Growth Hormone / administration & dosage*
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Growth Hormone / deficiency
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Humans
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Injections, Subcutaneous
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Sleep Disorders, Circadian Rhythm / drug therapy
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Sleep Disorders, Circadian Rhythm / genetics
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Sleep Disorders, Circadian Rhythm / physiopathology
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Sleep Wake Disorders / drug therapy*
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Sleep Wake Disorders / genetics
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Sleep Wake Disorders / physiopathology
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Sleep, REM / drug effects
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Sleep, REM / genetics
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Syndrome
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Treatment Outcome