Sleep Medicine 10 (2009) 147–151 www.elsevier.com/locate/sleep
Introduction to Images in Sleep Medicine This section, IMAGES IN SLEEP MEDICINE, is intended to tap a relatively unique feature of sleep science: images that have great educational and conceptual content. These could be, for example, electroencephalograms, electromyograms, polysomnograms, portable devices, actigrams, scans including functional images, pathology specimens, brain slice preparations, fluorescent microscopy and other cutting edge techniques. The source may be human or nonhuman, but the clinical relevance should be clear. Illustrations must consist of clear and high-quality, blackand-white or color-digitized images. At this stage, videos can be submitted only for online publication. The message accompanying the picture may be a maximum of 500 words, with no more than 5 references. It is especially important not to try and make a case report out of these submissions, and detailed clinical (as contrasted to image) analysis should be avoided. The material should be submitted on the Sleep Medicine website (www.ees.elsevier.com/sleep). Images can be embedded within a text document such as Microsoft Word, a slide program such as Microsoft PowerPoint, or converted to Acrobat files.
Authors should expect that the images will be available for use (with acknowledgement) to the general sleep community for teaching purposes, and so copyrighted/ patentable material should be avoided. In its final form, these images will be a freely available, searchable digital teaching image library. Comments regarding the images should be sent by e-mail to the section co-editors within a month of the publication date. These comments will be summarized and posted, if determined to be of educational content, with the original image on the journal’s web site, expected to be active for content soon. We hope this section will be enriched by the contributions of our colleagues who wish to offer stimulating opportunities for discussion and new insights in the field of sleep. Liborio Parrino E-mail address:
[email protected] Robert Thomas E-mail address:
[email protected] doi:10.1016/S1389-9457(08)00336-5
Mouth leaks may complicate positive airway pressure treatment of OSAS in facioscapulohumeral muscular dystrophy Giacomo Della Marca a,*, Roberto Frusciante a, Catello Vollono Serena Dittoni a, Pietro Attilio Tonali a,b, Enzo Ricci a,b a
,
Unit of Sleep Medicine, Department of Neurosciences, Catholic University, Policlinico Universitario ‘‘A. Gemelli’’, L.go A. Gemelli 8, 00168 Rome, Italy b Fondazione Pro Juventute Don C. Gnocchi, Rome, Italy Received 8 August 2007; received in revised form 1 October 2007; accepted 7 October 2007 Available online 12 February 2008
*
a,b
Corresponding author. Tel.: +39 06 30154276; fax: +39 06 35501909. E-mail address:
[email protected] (G. Della Marca).
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1. Introduction to the case Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disease mapped to the long arm of chromosome 4 (region 4q35) [1], characterized by involvement of facial and scapular muscles with eventual spreading to pelvic and lower limb muscles. Sleep related respiratory disorders are common in muscular dystrophies [2], but they have not yet been systematically investigated in FSHD. We observed a 46-year-old man, affected by FSHD, who presented an obstructive respiratory disorder during sleep (OSAS). The diagnosis of FSHD was confirmed by the genetic test (the size of the p13E-11 EcoRI fragment was 25 kb); the clinical impairment was severe (FSHD Clinical Severity Scale score = 4/5) [3]. Body Mass Index was 30.7 kg/m2. OSAS was assessed by means of laboratory-based full night polysomnography (Apnea–Hypopnea Index (AHI) = 36.4 events/h). The patient complained of severe daytime sleepiness (Epworth Sleepiness Scale score = 15), and BiLevel Positive Airway Pressure (BiPAP) treatment was started (IPAP = 16 mbar, EPAP = 8 mbar). The
patient needed high IPAP (16 mbar); since such pressures can cause expiratory discomfort, a BiLevel device was preferred. BiPAP treatment proved effective and reduced the AHI to 3 events/h. The compliance to BiPAP treatment was greatly reduced by discomfort provoked by mouth leaks; such discomfort caused insomnia with marked reduction of subjective sleep duration and consequent daytime impairment. The bilateral weakness of the orbicular oculis made the patient particularly sensitive to air leaks producing conjunctivas irritation; to avoid this, he applied a very tight fitting mask, which provoked skin lesions on the nose and the cheeks. A full-face mask was not tolerated and a chinstrap was of no benefit. 2. Image analysis In order to prevent the mouth insufflation, air leaks and air swallowing, the patient experimented with a home-made elastic bandage, which fully covered his mouth and cheeks (Fig. 1C); this greatly improved the tolerance for the BiPAP. Fig. 1: (A) Patient is blowing; note the bilateral facial weakness. (B) Patient is wearing
Fig. 1. A: Patient without mask, blowing; note the inferior facial deficit. B: wearing the nasal mask. C: wearing the bandage. D: wearing both mask and bandage.
Images in Sleep Medicine / Sleep Medicine 10 (2009) 147–151
the BiPAP mask; the mouth is kept open by the air leakage. (C) Patient is wearing his home-made elastic bandage, fully covering his mouth and cheeks. (D) Patient is wearing the BiPAP mask together with the bandage.
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pressure treatment and severe facial weakness causing mouth leaks is presumably not infrequent in FSHD patients, and it can represent a very peculiar burden in the treatment of respiratory disorders in these patients.
3. Discussion Acknowledgement Mouth leaks complicate positive airway pressure therapy, leading to discomfort and reduced compliance in 10–15% of cases; in most cases, leaks are due to mouth opening, and special mouth closing devices have been tried to avoid leaks [4]. The use of a chinstrap, was in no way suitable for our patient, in whom mouth leaks were not due to the nocturnal fall of the mandible, but were consequent to the severe weakness of facial muscles. The main achievement of the bandage, in our patient, was the prevention of mouth leaks and, above all, the avoidance of the mouth insufflation and air swallowing once the cheeks could no longer be blown outwards. The use of this bandage improved the nocturnal comfort and the compliance to BiPAP, but did not modify the respiratory indexes (AHI with BiPAP without the bandage = 3 events/h, AHI with BiPAP and bandage = 2 events/h). The involvement of facial muscles, with replacement of muscular fibers by fat and fibrotic tissue, is a peculiar feature of FSHD, with various degrees of severity. The concomitant occurrence of OSAS requiring positive airways
We thank our patient, Mr. Antonio Pelagatti, for his kind contribution to this paper.
References [1] Wijmenga C, Hewitt JE, Sandkuijl LA, Clark LN, Wright TJ, Dauwerse HG, et al. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat Genet 1992;2:26–30. [2] Guilleminault C, Shergill RP. Sleep-disordered breathing in neuromuscular disease. Curr Treat Options Neurol 2002;4:107–12. [3] Ricci E, Galluzzi G, Deidda G, Cacurri S, Colantoni L, Merico B, et al. Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype. Ann Neurol 1999;45:751–7. [4] Bachour A, Hurmerinta K, Maasilta P. Mouth closing device (chinstrap) reduces mouth leak during nasal CPAP. Sleep Med 2004;5:261–7.
doi:10.1016/j.sleep.2007.10.024
Facio-mandibular myoclonus specific during REM sleepq Renate Wehrle, Andrea Bartels, Thomas C. Wetter
*
Max Planck Institute of Psychiatry, Kraepelinstr. 2—10, 80804 Munich, Germany Received 26 November 2007; received in revised form 29 December 2007; accepted 21 January 2008 Available online 1 April 2008
1. Introduction to the case Nocturnal facio-mandibular myoclonus is a rare condition characterized by sudden forceful activity of masticatory muscles during sleep that may be confused with sleep bruxism [1–4]. A 79-year-old man presented with nocturnal awakenings upon biting of the tongue for about five months, leading to severe lesions and finally partial resection of tongue tissue after failure of multiple treatment. Neurological investigation revealed dysar-
thria and hypertrophied bilateral masseter muscles. Laboratory parameters including serum chemistry (complete blood count, creatinine, electrolytes, liver enzymes, bilirubin, urea, uric acid, lactate dehydrogenase, glucose, iron, ferritin, basal thyroid stimulating hormone), lumbar puncture and neurophysiological examinations were normal. MRI revealed a right frontal lesion due to a war trauma and a small right parietal post-ischemic gliosis. 2. Image analysis
q
Disclosure: The authors report no conflict of interest. Corresponding author. Tel.: +49 89 306 22 226; fax: +49 89 306 22 605. E-mail address:
[email protected] (T.C. Wetter). *
Video polysomnographic (PSG) recordings including an extended EEG montage and bilateral surface EMG of the mentalis, masseter and tibialis anterior muscles showed significantly decreased sleep efficiency
