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Central apneas in a case of Crisponi syndrome

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Page 1: Central apneas in a case of Crisponi syndrome

www.elsevier.com/locate/sleep

Sleep Medicine 9 (2008) 703–704

Letter to the Editor

Central apneas in a case of Crisponi syndrome

To the Editor:

Crisponi syndrome is a rare autosomal recessive syn-drome, described in 1996 by Crisponi [1], which iscaused by mutations in the CRLF1 gene [2]. The pheno-type is characterized by muscular contractions at birth,intermittent hyperthermia, facial abnormalities, andcamptodactyly. We observed an Italian female childwith Crisponi syndrome. She was born at the 37th week,with an Apgar score of 7 after 1 min and 9 after 5 min.Physical examination suggested Crisponi syndrome [1]and the genetic study confirmed the diagnosis. Brainmagnetic resonance imaging (MRI) was normal.

A full-night, laboratory-based, video-polysomno-graphic study was performed at seven weeks. Brief apneasof central type (mean duration: 6.7 s) were present in allsleep stages (apnea index: 74 events/h), associated withoxygen desaturations (lowest SpO2: 81.5%) (Fig. 1).Central events were not associated with electroencephalo-graphic (EEG) abnormalities nor with overt modifica-tions of heart rate. No snoring, noisy breathing, orobstructive or mixed respiratory events were observed.

The only previous description of polysomnography inCrisponi syndrome [3] concerns a 4-year-old boy whodisplayed, during sleep, a ‘bizarre mix’ of central andobstructive respiratory events, together with long expi-ratory apneas. In our patient, the respiratory disorderwas of central type, whereas obstructive events wereabsent. These differences could be due to the clinical var-iability of the syndrome or, alternatively, to the veryyoung age of our patient (7 weeks). Impaired centralcontrol of breathing in infants may be the expressionof abnormal brainstem development [4]. The brainstemis a key structure in the pathogenesis of many neurolog-ical phenomena in Crisponi syndrome, including parox-ysmal muscular contractions, trizma evoked by stimuli(which closely resembles hyperekplexia) [5] and auto-nomic dysfunction with hyperthermia.

In conclusion, an abnormal central control of respira-tion may be present at birth in Crisponi infants. Thissupports the hypothesis of brainstem dysfunction andmay increase the risk of sudden death.

1389-9457/$ - see front matter � 2007 Elsevier B.V. All rights reserved.doi:10.1016/j.sleep.2007.08.003

References

[1] Crisponi G. Autosomal recessive disorder with muscle contractionsresembling neonatal tetanus, characteristic face, camptodactyly,hyperthermia, and sudden death: a new syndrome? Am J MedGenet 1996;62(4):365–71.

[2] Crisponi L, Crisponi G, Meloni A, Toliat MR, Nurnberg G, UsalaG, et al. Crisponi syndrome is caused by mutations in the CRLF1gene and is allelic to cold-induced sweating syndrome type 1.Am J Hum Genet 2007;80(5):971–81.

[3] Nannenberg EA, Bijlmer R, Van Geel BM, Hennekam RC.Neonatal paroxysmal trismus and camptodactyly: the Crisponisyndrome. Am J Med Genet A 2005;133(1):90–2.

[4] Glotzbach SF, Baldwin RB, Lederer NE, Tansey PA, Ariagno RL.Periodic breathing in preterm infants: incidence and characteristics.Pediatrics 1989;84(5):785–92.

[5] Cruccu G, Deuschl G. The clinical use of brainstem reflexes andhand-muscle reflexes. Clin Neurophysiol 2000;111(3):371–87.

Giacomo Della Marca a,*

Giuseppe Barone b

Catello Vollono a,c

Serena Dittoni a

Isabella Vasta b

Giuseppina Timpani d

Giangiorgio Crisponi e

Giuseppe Zampino b

a Department of Neurosciences, Catholic University,

Rome, Italyb Department of Paediatrics, Catholic University,

Rome, Italyc Fondazione Pro Juventute Don C. Gnocchi, Rome, Italyd Reparto di Neonatologia, Ospedale di Reggio Calabria,

Italye Servizio di Puericultura,

Centro per lo studio delle malformazioni congenite,

Universita di Cagliari, Italy

E-mail address: [email protected](G. Della Marca).

Received 9 July 2007; received in revised form17 July 2007; accepted 21 August 2007

Available online 24 October 2007

* Corresponding author. Tel.: +39 06 30154276; fax: +39 0635501909.

Page 2: Central apneas in a case of Crisponi syndrome

Fig. 1. PSG tracing showing about 2 min of quiet sleep, with continuous central apneas. Montage is specified on the left. Central apneas are clearlyvisible on the airflow, chest and abdominal effort channels and intercostal EMG. Mild peripheral oxygen desaturations are visible in the SpO2channel (nadir SpO2: 90%). Time scale is in the lower right corner.

704 Letter to the Editor / Sleep Medicine 9 (2008) 703–704