Sleep Medicine 10 (2009) 592–593

www.elsevier.com/locate/sleep

Introduction to Images in Sleep Medicine

This section, IMAGES IN SLEEP MEDICINE, isintended to tap a relatively unique feature of sleep science:images that have great educational and conceptual content.These could be, for example, electroencephalograms, elec-tromyograms, polysomnograms, portable devices, acti-grams, scans including functional images, pathologyspecimens, brain slice preparations, fluorescent microscopyand other cutting edge techniques. The source may behuman or non-human, but the clinical relevance shouldbe clear. Illustrations must consist of clear and high-qual-ity, black-and-white or color-digitized images. At this stage,videos can be submitted only for online publication.

The message accompanying the picture may be a maximumof 500 words, with no more than 5 references. It is especiallyimportant not to try and make a case report out of these sub-missions, and detailed clinical (as contrasted to image) analysisshould be avoided. The material should be submitted on theSleep Medicine website (www.ees.elsevier.com/sleep). Imagescan be embedded within a text document such as MicrosoftWord, a slide program such as Microsoft PowerPoint, or con-verted to Acrobat files.

Authors should expect that the images will be availablefor use (with acknowledgement) to the general sleep com-munity for teaching purposes, and so copyrighted/patenta-ble material should be avoided. In its final form, theseimages will be a freely available, searchable digital teachingimage library. Comments regarding the images should besent by e-mail to the section co-editors within a month ofthe publication date. These comments will be summarizedand posted, if determined to be of educational content, withthe original image on the journal’s web site, expected to beactive for content soon.

We hope this section will be enriched by the contribu-tions of our colleagues who wish to offer stimulating oppor-tunities for discussion and new insights in the field of sleep.

Liborio ParrinoE-mail address: liborio.parrino@unipr.it

Robert ThomasE-mail address: rthomasl@bidmc.harvard.edu

doi:10.1016/S1389-9457(09)00171-3

Alveolar hypoventilation as an early symptom of muscle weaknessin facioscapulohumeral muscular dystrophy q

Sven Rupprecht *, Georg Hagemann, Otto W. Witte, Matthias Schwab

Department of Neurology, University of Jena, Germany

Received 7 May 2008; accepted 7 May 2008

Keywords: Neuromuscular disease; Facioscapulohumeral muscular dystrophy; Alveolar hypoventilation; Tapir sign

1. Introduction to the case

A 34-year-old man without a family history of muscle dis-eases presented with a slowly progressing weakness and wast-ing of the facial, shoulder, upper-arm, and pectoral muscles.In addition, he showed a prominent pouting appearance of

the lips (‘‘tapir sign,’’ Fig. 1). He was employed as a buildingworker and free of complaints in everyday life. Only onenquiry he reported occasional episodes of nocturnal short-ness of breath. Fatigue, daytime sleepiness, and morningheadaches were denied. Serum concentration of creatininekinase was normal. Electromyography showed myopathic

q Submitted to: Sleep Medicine ‘‘Images in Sleep Medicine’’, PREVIOUSLY SLEEP-D-08-00017.* Corresponding author. Address: Department of Neurology, Friedrich-Schiller-University, Erlanger Alle 101, 07740 Jena, Germany. Tel.: +49

3641 9 323480; fax: +49 3641 9 323402.E-mail address: Sven.Rupprecht@med.uni-jena.de (S. Rupprecht).

Fig. 1. Prominent pouting appearance of the lips (‘‘tapir sign’’) andwasting of the facial, shoulder, and upper-arm muscles in a sporadiccase of facioscapulohumeral muscular dystrophy FSHD.

Fig. 2. Polysomnography. (A) Hypoventilation resulting in continuoushypoxemia during REM sleep (3-min episode). (B) Central sleep apneaduring REM sleep (3-min episode). (C) Mixture of hypoventilationand obstructive apnea during REM sleep (3-min episode).

Images in Sleep Medicine / Sleep Medicine 10 (2009) 592–593 593

changes with corresponding histologic muscular dystrophysigns in pectoral muscle biopsy.

The diagnosis of a sporadic case of facioscapulohumeralmusculardystrophy(FSHD)wassupportedbyDNAanalysisdemonstrating deletions on chromosome 4q35. Respiratorymuscle strength, including forced vital capacity (FVC: 53%of predicted), and maximal inspiratory pressure (MIP: 32%of predicted) was markedly reduced with consecutive alveolarhypoventilationatdayandnight time(arterialbloodgasanal-ysis at daytime: pH 7.4, pO2: 79 mmHg, pCO2: 53 mmHg,night time: pH 7.4, pO2: 81 mmHg, pCO2: 60 mmHg). Poly-somnography revealed a broad spectrum of respiratoryevents including sustained episodes of hypoventilation, cen-tral and obstructive apneas that were aggravated duringREM sleep (Fig. 2). Nocturnal non-invasive positive pressureventilation (NPPV) was initialized and well tolerated by thepatient.

2. Image analysis

See Figs. 1 and 2.

3. Discussion

FSHD is a form of muscular dystrophy mainly affectingfacial and shoulder girdle muscles. The ‘‘tapir sign’’ as a dis-tinct clinical feature is caused by relative hypertrophy oforbicularis oris muscle in contrast to augmented wastingof other facial muscle groups. Due to the restricted distribu-tion of dystrophic changes, only one percent of FSHDpatients develop clinically apparent ventilatory insufficiency[1]. If present, ventilatory failure in FSHD is thought to beassociated with severe muscle disease, wheelchair depen-dency and kyphoscoliosis [1]. Our case demonstrates thatclinically unapparent chronic hypoventilation and sleep-related respiratory events may already occur in early stages

of the disease. Since respiratory complications due to venti-latory insufficiency are a major cause of death in neuromus-cular diseases, in patients with FSHD polysomnography isindicated when available, even in the absence of any indica-tive complaints to improve morbidity, mortality, and qual-ity of life by timely initiation of NPPV [2–4].

References

[1] Wohlgemuth M, van der Kooi EL, van Kesteren RG, van derMaarel SM, Padberg GW. Ventilatory support in facioscapulohu-meral muscular dystrophy. Neurology 2004;63(1):176–8. July 13.

[2] Simonds AK, Elliott MW. Outcome of domiciliary nasal intermit-tent positive pressure ventilation in restrictive and obstructivedisorders. Thorax 1995;50(6):604–9. June.

[3] Piper AJ, Sullivan CE. Effects of long-term nocturnal nasalventilation on spontaneous breathing during sleep in neuromuscu-lar and chest wall disorders. Eur Respir J 1996;9(7):1515–22. July.

[4] Perrin C, Unterborn JN, D’Ambrosio C, Hill NS. Pulmonarycomplications of chronic neuromuscular diseases and their man-agement. Muscle & Nerve 2004;29(1):5–27. Jan.