Airway Management in Mucopolysaccharide Storage Disorders

Shinhar, Shai; Zablocki, Hedy; Madgy, David N.

doi:10.1001/archotol.130.2.233

Cited by 51 publications

(38 citation statements)

References 6 publications

(7 reference statements)

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“…The trachea can be narrowed by accumulation of dermatan sulphate and heparan sulphate, while the oropharynx can be obstructed by tonsillar and adenoid hypertrophy or a relatively large tongue [4,11]. Poor facial bone growth can result in nasopharyngeal airway insufficiency [4,6]. Moreover, the airway of these patients is often compromised by thickened mucous membranes, copious secretions, recurrent upper respiratory infections and pneumonia [1,4,6].…”

mentioning

confidence: 99%

“…Poor facial bone growth can result in nasopharyngeal airway insufficiency [4,6]. Moreover, the airway of these patients is often compromised by thickened mucous membranes, copious secretions, recurrent upper respiratory infections and pneumonia [1,4,6].…”

mentioning

confidence: 99%

“…Although tonsillectomy with or without adenoidectomy and continuous positive airway pressure therapy may provide partial relief of obstruction of the upper airway, tracheotomy is often the only effective means of establishing long-term lung care and airway control in patients with MPS type II [6,12].…”

mentioning

confidence: 99%

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Complications of tracheotomy in patients with mucopolysaccharidoses type II (Hunter syndrome)

Jeong

Cho

Ahn

et al. 2006

International Journal of Pediatric Otorhinolaryngology

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confidence: 99%

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confidence: 99%

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Complications of tracheotomy in patients with mucopolysaccharidoses type II (Hunter syndrome)

Jeong

Cho

Ahn

et al. 2006

International Journal of Pediatric Otorhinolaryngology

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“…The GAG deposition in the upper airways, which become increasingly narrowed, is probably a major determinant of symptoms in Hurler (MPS type I), Hunter (MPS type II), Morquio (MPS type IV) and Maroteaux-Lamy (MPS type VI) syndromes [95,[97][98][99]. In the vast majority of patients, noisy breathing, oral snoring and even severe OSAS dominate the clinical picture, and recurrent airway infections are reported at all ages [97,[99][100][101][102][103][104]. Severe respiratory problems that significantly contribute to premature mortality were reported in MPS type I, II, IV and VI [104].…”

Section: Mucopolysaccharidosesmentioning

confidence: 99%

Respiratory manifestations in patients with inherited metabolic diseases

Santamaria

Montella

Mirra

et al. 2013

European Respiratory Review

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Growing evidence indicates that inherited metabolic diseases are increasingly being recognised. Life expectancy for many patients is progressively improving because new therapeutic strategies are available. Because most inherited metabolic diseases are systemic disorders, virtually all organs may be involved. Respiratory disease complicates the management of several inherited metabolic diseases, either at presentation or as late-onset features. This review will describe the most exemplary respiratory manifestations of inherited metabolic diseases in childhood and adulthood. Since airways disease worsens the morbidity of many inherited metabolic disorders, leading to increased hospitalisations, mortality and overall healthcare costs, respiratory manifestations of inherited metabolic diseases need to be carefully recognised and treated. All patients with inherited metabolic disease and suspected airway disease should undergo a detailed diagnostic work-up. Current treatments for several inherited metabolic diseases (including enzyme replacement therapy, substrate reduction, bone marrow transplantation, or even more innovative strategies such as pharmacological chaperone or gene therapies) may provide significant benefits for associated respiratory disease. The integration of several specialists dedicated to airway disease management in a multidisciplinary team is essential to provide the most appropriate care to children and adults with inherited metabolic disease. @ERSpublications Proper management of respiratory disease is mandatory for reducing morbidity and mortality of inherited metabolic disease

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“…Still needed and very important in the treatment of patients with MPS is the symptomatic therapy: corneal transplantation because of corneal clouding improves visual capacity [130,131], however, poor vision caused by retinal degeneration or optic nerve atrophy cannot be reversed [10]. Airway obstruction may be alleviated by diverse operations or even with tracheobronchial stent or tracheostoma (Figures 1 and 14) insertion [63,64,[132][133][134], while cardiac valve replacement is occasionally needed [135,136]. Decompression of carpal tunnel syndrome should be performed early, before permanent nerve damage occurs [10,59,137].…”

Section: Cell Transplantationmentioning

confidence: 99%

Clinical and Neuroradiological Aspects of the Different Types

Müller‐Forell

Frenking²,

Amraoui³

et al. 2007

Clin Neuroradiol

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The different types (I-VII) of mucopolysaccharidoses (MPS), a hereditary lysosomal storage disorder where the enzyme defect leads to glycosaminoglycan deposits in different tissues, present with characteristic lesions of the central nervous system (CNS). This review reports the CT and MRI findings of patients suffering from mucopolysaccharidosis in the context with aspects of biochemistry, pathophysiology, histological findings and clinical course. Neuroradiological findings include hydrocephalus, focal or global brain atrophy, and spinal cord compression at the atlantoaxial joint. Cribriform white matter lesions, corresponding to mucopolysaccharide deposition in the enlarged perivascular space, combined with leukencephalopathy are found in about half of the patients. Another half of the patients show minor to severe myelopathy at the atlantoaxial joint due to cervical cord compression. These findings are observed mainly in patients with MPS type IV, but as well in nearly all patients with MPS type VI. In the literature brain involvement is described exclusively in MPS type I, II and III, but the authors show definite demyelination and widening of the perivascular space in a number of patients with MPS type VI, who additionally suffered from progressive visual deficits, caused by ocular and/or optic nerve involvement. ZusammenfassungDie verschiedenen Formen der Mukopolysaccharidosen (MPS), einer hereditären, lysosomalen Speicherkrankheit, die, bedingt durch einen Enzymdefekt, zu Glykosaminoglykanablagerungen in verschiedenen Geweben führt, weisen charakteristische Veränderungen des zentralen Nervensystems (ZNS) aus. In dieser Übersichtsarbeit werden die CT-und MRT-Befunde von Patienten mit Mukopolysaccharidosen in Zusammenhang mit biochemischen, pathophysiologischen und pathohistologischen Befunden sowie charakteristischen klinischen Symptomen und im Verlauf vorgestellt. Die neuroradiologischen Befunde des ZNS weisen neben einem Hydrozephalus, einer fokalen und/oder globalen Atrophie auch eine medulläre Kompression am kraniozervikalen Übergang auf. Hinzu kommen erweiterte perivaskuläre Räume und Veränderungen der weißen Substanz. In jeweils etwa der Hälfte aller Patienten werden diese sog. cribriformen Läsionen (bedingt durch perivaskuläre Mukopolysaccharidablagerungen) und eine Leukenzephalopathie sowie eine hohe zervikale Myelonkompression mit unterschiedlich ausgeprägter Myelomalazie gefunden. Diese Befunde sind in erster Linie bei Patienten mit MPS IV, aber auch in der Mehrzahl der Patienten mit MPS VI zu finden. In der Literatur wird angegeben, dass eine ZNS-Beteiligung lediglich bei Patienten mit MPS I, II und III zu finden ist, die Autoren haben jedoch Demyelinisierung und erweiterte perivaskuläre Räume auch bei Patienten mit MPS VI nachgewiesen, die zusätzlich auch an progredienter Visusminderung litten, bedingt durch eine Beteiligung der Kornea und/oder des Nervus opticus. Schlüsselwörter: Mukopolysaccharidosen (MPS) · MR · Perivaskulärer Raum · Myelopathie · Leukenzephalopathie

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Airway Management in Mucopolysaccharide Storage Disorders

Cited by 51 publications

References 6 publications

Complications of tracheotomy in patients with mucopolysaccharidoses type II (Hunter syndrome)

Complications of tracheotomy in patients with mucopolysaccharidoses type II (Hunter syndrome)

Respiratory manifestations in patients with inherited metabolic diseases

Clinical and Neuroradiological Aspects of the Different Types

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