Abstract
We describe a 2-year-old baby affected by Smith-Magenis syndrome (SMS), due to 17p11.2 deletion, who presented repeated episodes of hemoglobin desaturation during REM sleep. The boy, aged 14 months, presented a phenotype characterized by psychomotor delay, right posterior plagiocephaly, telecanthus, strabismus, upslanting palpebral fissures, broad hypoplastic nasal bridge, short philtrum, deep ring shaped skin creases around the limbs, proximal syndactyly, bilateral hypoacusia. Polysomnographic (PSG) recording showed episodes of REM related hypoventilation (hemoglobin desaturations without apneas or hypopneas). Sleep disorders are present in almost all the cases of SMS, but very few reports describe the sleep-related respiratory patterns. The finding of REM hypoventilation in SMS does not allow an unequivocal interpretation. It could reflect a subclinical restrictive respiratory impairment or, alternatively, an impairment of central respiratory control during REM sleep. In SMS children, respiratory abnormalities during sleep, and in particular during REM sleep, may cause sleep disruption, reduction of time spent in REM sleep, and daytime sleepiness. We therefore suggest that some sleep abnormalities described in SMS could be consequent to Sleep Disordered Breathing, and in particular to REM hypoventilation. Sleep studies in SMS should include the recording of respiratory parameters.
| Original language | English |
|---|---|
| Pages (from-to) | 708-712 |
| Number of pages | 5 |
| Journal | American Journal of Medical Genetics, Part A |
| Volume | 152 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - Mar 2010 |
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Keywords
- 17p11.2 deletion
- Hypoventilation
- Polysomnography
- REM
- Sleep disorders
- Smith-Magenis syndrome
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
Cite this
Hypoventilation in REM sleep in a case of 17p11.2 deletion (Smith-Magenis syndrome). / Leoni, Chiara; Cesarini, Laura; Dittoni, Serena; Battaglia, Domenica; Novelli, Antonio; Bernardini, Laura; Losurdo, Anna; Vollono, Catello; Testani, Elisa; Marca, Giacomo Della; Zampino, Giuseppe.
In: American Journal of Medical Genetics, Part A, Vol. 152, No. 3, 03.2010, p. 708-712.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Hypoventilation in REM sleep in a case of 17p11.2 deletion (Smith-Magenis syndrome)
AU - Leoni, Chiara
AU - Cesarini, Laura
AU - Dittoni, Serena
AU - Battaglia, Domenica
AU - Novelli, Antonio
AU - Bernardini, Laura
AU - Losurdo, Anna
AU - Vollono, Catello
AU - Testani, Elisa
AU - Marca, Giacomo Della
AU - Zampino, Giuseppe
PY - 2010/3
Y1 - 2010/3
N2 - We describe a 2-year-old baby affected by Smith-Magenis syndrome (SMS), due to 17p11.2 deletion, who presented repeated episodes of hemoglobin desaturation during REM sleep. The boy, aged 14 months, presented a phenotype characterized by psychomotor delay, right posterior plagiocephaly, telecanthus, strabismus, upslanting palpebral fissures, broad hypoplastic nasal bridge, short philtrum, deep ring shaped skin creases around the limbs, proximal syndactyly, bilateral hypoacusia. Polysomnographic (PSG) recording showed episodes of REM related hypoventilation (hemoglobin desaturations without apneas or hypopneas). Sleep disorders are present in almost all the cases of SMS, but very few reports describe the sleep-related respiratory patterns. The finding of REM hypoventilation in SMS does not allow an unequivocal interpretation. It could reflect a subclinical restrictive respiratory impairment or, alternatively, an impairment of central respiratory control during REM sleep. In SMS children, respiratory abnormalities during sleep, and in particular during REM sleep, may cause sleep disruption, reduction of time spent in REM sleep, and daytime sleepiness. We therefore suggest that some sleep abnormalities described in SMS could be consequent to Sleep Disordered Breathing, and in particular to REM hypoventilation. Sleep studies in SMS should include the recording of respiratory parameters.
AB - We describe a 2-year-old baby affected by Smith-Magenis syndrome (SMS), due to 17p11.2 deletion, who presented repeated episodes of hemoglobin desaturation during REM sleep. The boy, aged 14 months, presented a phenotype characterized by psychomotor delay, right posterior plagiocephaly, telecanthus, strabismus, upslanting palpebral fissures, broad hypoplastic nasal bridge, short philtrum, deep ring shaped skin creases around the limbs, proximal syndactyly, bilateral hypoacusia. Polysomnographic (PSG) recording showed episodes of REM related hypoventilation (hemoglobin desaturations without apneas or hypopneas). Sleep disorders are present in almost all the cases of SMS, but very few reports describe the sleep-related respiratory patterns. The finding of REM hypoventilation in SMS does not allow an unequivocal interpretation. It could reflect a subclinical restrictive respiratory impairment or, alternatively, an impairment of central respiratory control during REM sleep. In SMS children, respiratory abnormalities during sleep, and in particular during REM sleep, may cause sleep disruption, reduction of time spent in REM sleep, and daytime sleepiness. We therefore suggest that some sleep abnormalities described in SMS could be consequent to Sleep Disordered Breathing, and in particular to REM hypoventilation. Sleep studies in SMS should include the recording of respiratory parameters.
KW - 17p11.2 deletion
KW - Hypoventilation
KW - Polysomnography
KW - REM
KW - Sleep disorders
KW - Smith-Magenis syndrome
UR - http://www.scopus.com/inward/record.url?scp=77649214442&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=77649214442&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.32700
DO - 10.1002/ajmg.a.32700
M3 - Article
C2 - 20186811
AN - SCOPUS:77649214442
VL - 152
SP - 708
EP - 712
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 3
ER -