Find information on thousands of medical conditions and prescription drugs.

MASA syndrome

MASA syndrome is a rare hereditary neurological disorder. The name is an acronym describing the four major symptoms - Mental retardation, Aphasia, Shuffling gait, and Adducted thumbs.

Mac Ardle disease
Macular degeneration
Mad cow disease
Maghazaji syndrome
Mal de debarquement
Malignant hyperthermia
Mallory-Weiss syndrome
Malouf syndrome
Marburg fever
Marfan syndrome
MASA syndrome
Mast cell disease
MAT deficiency
Maturity onset diabetes...
McArdle disease
McCune-Albright syndrome
Mediterranean fever
Megaloblastic anemia
Meleda Disease
Meniere's disease
Mental retardation
Mercury (element)
Metabolic acidosis
Metabolic disorder
Methylmalonic acidemia
Microscopic polyangiitis
Microtia, meatal atresia...
Miller-Dieker syndrome
Mitochondrial Diseases
Mitral valve prolapse
Mobius syndrome
MODY syndrome
Moebius syndrome
Molluscum contagiosum
MOMO syndrome
Mondini Dysplasia
Mondor's disease
Monoclonal gammopathy of...
Morquio syndrome
Motor neuron disease
Moyamoya disease
MPO deficiency
Mullerian agenesis
Multiple chemical...
Multiple endocrine...
Multiple hereditary...
Multiple myeloma
Multiple organ failure
Multiple sclerosis
Multiple system atrophy
Muscular dystrophy
Myalgic encephalomyelitis
Myasthenia gravis
Mycosis fungoides
Myelodysplastic syndromes
Myeloperoxidase deficiency
Myoadenylate deaminase...
Myositis ossificans


[List your site here Free!]

Acute and chronic respiratory failure in patients with obesity-hypoventilation syndrome: a new challenge for noninvasive ventilation
From CHEST, 8/1/05 by Antoine Cuvelier

The increased prevalence of adult obesity has been one of the most striking epidemiologic phenomenon in most countries around the world during these last 100 years. It is also a matter of great concern in children 5 to 12 years old in whom the prevalence of obesity has been multiplied by three in the United States and by four in France between 1960 and 2000. (1)

Because adult obesity is a risk factor for obstructive sleep apnea syndrome (OSAS), obesity-hypoventilation syndrome (OHS), acute hypercapnic respiratory failure (AHRF), and higher incidence of respiratory postsurgical complications, it is not surprising to see that obesity is now considered as an emerging cause of chronic respiratory failure (CRF) requiring domiciliary ventilatory assistance. (2) CRF in obese patients is a frequent issue in clinical practice and is usually diagnosed either in the context of an AHRF in the emergency department or when investigating a potential diagnosis of OSAS or even during a preoperative evaluation. Approximately 10% of patients with OSAS have daytime hypercapnia, often associated with pulmonary hypertension. (3) Obstructive airways disease may be associated in some of these patients and constitutes the so-called overlap syndrome. (4-6) Another clinical picture of CRF in obese patients is OHS, (3) previously called the Pickwickian syndrome, (7) which is associated with a range of different sleep respiratory patterns such as hypoventilation, obstructive apneas, central apneas, or a combination of these.

Noninvasive ventilation (NIV) using a nasal or facial mask has been proposed to alleviate respiratory failure of various origins. (8) In obese patients, mechanisms of action probably include unloading of respiratory muscles, (9) correction of nocturnal hypoventilation and resetting of the respiratory centers. (8) However, the data are limited, and we need to better understand the physiologic effects of NIV in these patients. Surprisingly, very few articles or chapters have focused on the issue of obese patients treated by NIV in the acute (10-12) or the chronic setting, (13-16) and only included a limited number of patients with short follow-up. Waiting for a clinical assessment like in acute COPD, NIV should be today considered early in the management of an obese patient with AHRF (when endotracheal intubation is not immediately required) in order to prevent the risk from endotracheal intubation, to reduce hospital stay and to correct the underlying sleep respiratory disorders. Domiciliary NIV should be also considered when daytime hypercapnia and nocturnal hypoventilation are present. In this situation, precursory clinical signs often associate morning headaches, impaired cognitive function, or reduced daytime vigilance (the "obese sleepy patient" as described by Claman et al (17)), but diagnoses may also be made much later with cor pulmonale and/or nocturnal arrhythmias.

In this issue of CHEST (see page 587) De Llano et al describe a large group of 54 obese patients treated by NIV for hypercapnic respiratory failure and followed up at least during 1 year (50 [+ or -] 25 months [[+ or -] SD]). NIV was initiated electively in 20 patients and in the immediate outcome of an AHRF episode in the remaining 34 patients. Most of the patients improved under bilevel positive pressure ventilation adapted according to night oximetry and daytime arterial blood gas (ABG) analysis, and were discharged home with nocturnal NIV and additional oxygen. The authors show that NIV is efficient either in acute as in chronic setting with a reduction of daytime sleepiness, a sustained improvement of ABG values on a long-term basis, and a low mortality rate. However, NIV was not accepted by 15 of the 69 initially screened patients, and this situation was associated with a significant risk of death (four of seven in ARF and three of eight in CRF). Another point emphasized by De Llano et al is the primary role of polysomnographic (PSG) recordings during follow-up, when patients achieve a stable clinical condition: 13% of patients were free of associated OSAS, and the remaining received a diagnosis of OSAS with an apnea-hypopnea index of 43.3 [+ or -] 25.6. In 31 patients, this PSG recording attested that a simple continuous positive airway pressure (CPAP) device was sufficient to prevent from further recurrence of respiratory failure. Moreover, a significant proportion of patients were allowed to stop additional oxygen therapy.

Therefore, a new sphere of activity is opening for respiratory physicians, especially those working in intermediate care units where a significant number of obese patients with daytime hypercapnia are managed, either in the acute or the chronic setting. At hospital admission for AHRF and otherwise contraindicated, NIV should be the first-line treatment using bilevel positive pressure ventilators and sometimes flow-preset ventilators in case of primary failure. Domiciliary NIV allows to correct the underlying sleep respiratory disorders and may prevent from the risk of recurrent AHRF episodes. PSG studies may help to titrate NIV during initiation and also to evaluate a further shift of the ventilatory assistance (with or without oxygen) to a CPAP device alone.

Antoine Cuvelier, MD, PhD

Jean-Francois Muir, MD, FCCP

Rouen, France

Drs. Cuvelier and Muir are from the Service de Pneumologie, Hopital de Bois-Guillaume, Rouen, France.

Reproduction of this article is prohibited without written permission from the American College of Chest Physicians (

Correspondence to: Antoine Cuvelier MD, PhD, Service de Pneumologie et Unite de Soins Intensifs Respiratoires, Hopital de Bois-Guillaume, CHU de Rouen, 76031 Rouen CEDEX, France; e-mail:


(1) Molarius A, Seidell JC, Sans S, et al. Educational level, relative body weight, and changes in their association over 10 years: an international perspective from the WHO MONICA Project. Am J Public Health 2000; 90:1260-1268

(2) Janssens JP, Derivaz S, Breitenstein E, et al. Changing patterns in long-term noninvasive ventilation: a 7-year prospective study in the Geneva Lake area. Chest 2003; 123: 67-79

(3) Kessler R, Chaouat A, Schinkewitch P, et al. The obesity-hypoventilation syndrome revisited: a prospective study of 34 consecutive cases. Chest 2001; 120:369-376

(4) Flenley DC. Sleep in chronic obstructive lung disease. Clin Chest Med 1985; 6:651-661

(5) Chaouat A, Weitzenblum E, Krieger J, et al. Association of chronic obstructive pulmonary disease and sleep apnea syndrome. Am J Respir Crit Care Med 1995; 151:82-86

(6) Sanders MH, Newman AB, Haggerty CL, et al. Sleep and sleep-disordered breathing in adults with predominantly mild obstructive airway disease. Am J Respir Crit Care Med 2003; 167:7-14

(7) Bickelmann AG, Burwell CS, Robin ED, et al. Extreme obesity associated with alveolar hypoventilation: a Pickwickian syndrome. Am J Med 1956; 21:811-818

(8) Hill NS. Noninvasive ventilation: does it work, for whom, and how? Am Rev Respir Dis 1993; 147:1050-1055

(9) Pankow W, Hijjeh N, Schuttler F, et al. Influence of noninvasive positive pressure ventilation on inspiratory muscle activity in obese subjects. Eur Respir J 1997; 10:2847-2852

(10) Shivaram U, Cash ME, Beal A. Nasal continuous positive airway pressure in decompensated hypercapnic respiratory failure as a complication of sleep apnea. Chest 1993; 104: 770-774

(11) Sturani C, Galavotti V, Scarduelli C, et al. Acute respiratory failure due to severe obstructive sleep apnea syndrome, managed with nasal positive pressure ventilation. Monaldi Arch Chest Dis 1994; 49:558-560

(12) Ordronneau J, Chollet S, Nogues B, et al. Le syndrome d'apnee du sommeil en Reanimation. Rev Mal Respir 1994; 11:51-55

(13) Piper AJ, Sullivan CE. Effects of short-term NIPPV in the treatment of patients with severe obstructive sleep apnea and hypercapnia. Chest 1994; 105:434-440

(14) Waldhorn RE. Nocturnal nasal intermittent positive pressure ventilation with bi-level positive airway pressure (BiPAP) in respiratory failure. Chest 1992; 101:516-521

(15) Rabec C, Merati M, Baudouin N, et al. Prise en charge de l'obese en decompensation respiratoire. Interet de la ventilation nasale a double niveau de pression. Rev Mal Respir 1998; 15:269-278

(16) Masa JF, Celli BR, Riesco JA, et al. The obesity hypoventilation syndrome can be treated with noninvasive mechanical ventilation. Chest 2001; 119:1102-1107

(17) Claman DM, Piper A, Sanders MH, et al. Nocturnal noninvasive positive pressure ventilatory assistance. Chest 1996; 110:1581-1588

COPYRIGHT 2005 American College of Chest Physicians
COPYRIGHT 2005 Gale Group

Return to MASA syndrome
Home Contact Resources Exchange Links ebay