Pathophysiology, evaluation, and management of sleep disorders in the mucopolysaccharidoses

Rapoport, David M.; Mitchell, John

doi:10.1016/j.ymgme.2017.08.008

Cited by 24 publications

(33 citation statements)

References 48 publications

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“…This distinguishes this condition from the different forms of MPS (e.g. types I, II, IV and VI), in which cardiac and pulmonary problems are more frequent, often with severe clinical implications, also in the milder adult forms of these disorders (Brands et al 2013 ; Clark et al 2017 ; Rapoport and Mitchell 2017 ).…”

Section: Discussionmentioning

confidence: 99%

Mucolipidosis type III, a series of adult patients

Oussoren

Eerd

Murphy

et al. 2018

J of Inher Metab Disea

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BackgroundMucolipidosis type III α/β or γ (MLIII) are rare autosomal recessive diseases, in which reduced activity of the enzyme UDP-N-acetyl glucosamine-1-phosphotransferase (GlcNAc-PTase) leads to intra-lysosomal accumulation of different substrates. Publications on the natural history of MLIII, especially the milder forms, are scarce. This study provides a detailed description of the disease characteristics and its natural course in adult patients with MLIII.MethodsIn this retrospective chart study, the clinical, biochemical and molecular findings in adult patients with a confirmed diagnosis of MLIII from three treatment centres were collected.ResultsThirteen patients with MLIII were included in this study. Four patients (31%) were initially misdiagnosed with a type of mucopolysaccharidosis (MPS). Four patients (31%) had mild cognitive impairment. Six patients (46%) needed help with activities of daily living (ADL) or were wheelchair-dependent. All patients had dysostosis multiplex and progressive secondary osteoarthritis, characterised by cartilage destruction and bone lesions in multiple joints. All patients underwent multiple orthopaedic surgical interventions as early as the second or third decades of life, of which total hip replacement (THR) was the most common procedure (61% of patients). Carpal tunnel syndrome (CTS) was found in 12 patients (92%) and in eight patients (61%), CTS release was performed.ConclusionsSevere skeletal abnormalities, resulting from abnormal bone development and severe progressive osteoarthritis, are the hallmark of MLIII, necessitating surgical orthopaedic interventions early in life. Future therapies for this disease should focus on improving cartilage and bone quality, preventing skeletal complications and improving mobility.Electronic supplementary materialThe online version of this article (10.1007/s10545-018-0186-z) contains supplementary material, which is available to authorized users.

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Section: Discussionmentioning

confidence: 99%

Mucolipidosis type III, a series of adult patients

Oussoren

Eerd

Murphy

et al. 2018

J of Inher Metab Disea

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“…The prevalence of OSAS in patients with MPS was reported as 69.8% by Moreira et al [ 39 ]. Upper airway obstruction has been described for all MPS disorders [ 40 ] (Table 2 ). Other studies in the literature report intermediate percentages [ 1 – 3 , 12 – 15 , 41 – 43 ] (Table 3 ).…”

Section: Introductionmentioning

confidence: 99%

ENT and mucopolysaccharidoses

2018

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The mucopolysaccharidoses (MPS) are a heterogeneous group of inherited metabolic disorders, each associated with a deficiency in one of the enzymes involved in glycosaminoglycan (GAG) catabolism. Over time, GAGs accumulate in cells and tissues causing progressive damage, a variety of multi-organ clinical manifestations, and premature death. Ear, nose, and throat (ENT) disorders affect more than 90% of MPS patients and appear in the early stage of MPS; also reported are recurrent otitis media and persistent otitis media with effusion, macroglossia, adenotonsillar hypertrophy, nasal obstruction, obstructive sleep apnoea syndrome (OSAS), hearing loss, and progressive respiratory disorders. Undiagnosed MPS patients are frequently referred to otolaryngologists before the diagnosis of MPS is confirmed. Otolaryngologists thus have an early opportunity to recognize MPS and they can play an increasingly integral role in the multidisciplinary approach to the diagnosis and management of many children with MPS. The ENT commitment is therefore to suspect MPS when non-specific ENT pathologies are associated with repeated surgical treatments, unexplainable worsening of diseases despite correct treatment, and with signs, symptoms, and pathological conditions such as hepatomegaly, inguinal hernia, macrocephaly, macroglossia, coarse facial features, hydrocephalous, joint stiffness, bone deformities, valvular cardiomyopathy, carpal tunnel syndrome, and posture and visual disorders.

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“…Our study showed a similar prevalence of OSA of 69% in MPS IVA, by including patient #14 whose clinical history is strongly suggestive of severe OSA. Even if adenoidectomy and/or tonsillectomy represents an effective treatment for OSA in patients with MPS and enlarged adenoids and/or tonsils, OSA may persist after surgery as observed in three patients in the present study (Gönüldaş et al, ; Mesolella et al, ; Nashed et al, ; Rapoport & Mitchell, ; Sudarsan, Paramasivan, Arumugam, Murali, & Kameswaran, ). This underlines the importance of a systematic pre‐ and post‐operative sleep study in patients with MPS.…”

Section: Discussionmentioning

confidence: 51%

“…Eleven known enzyme deficiencies underlie seven distinct MPS types (I, II, III, IV, VI, VII, and IX). Respiratory disorders occur in all MPS types with OSA and chest cage abnormalities with restrictive lung disease being commonly observed (Rapoport & Mitchell, ). The prevalence of OSA reached almost 70% in a recent cohort of 45 patients with MPS type I, II, and VI (Moreira, Kyosen, Patti, Martins, & Tufik, ).…”

Section: Discussionmentioning

confidence: 99%

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A retrospective study on sleep‐disordered breathing in Morquio‐A syndrome

Facchina

Amaddeo

Baujat

et al. 2018

American J of Med Genetics Pt A

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Respiratory problems are common in Morquio-A syndrome (MPS IVA) but objective data on sleep-disordered breathing are scarce. The aim of our study was to review polygraphic (PG) findings and the need for noninvasive continuous positive airway pressure (CPAP) or noninvasive ventilation (NIV) in children with MPS IVA. A retrospective review of the clinical charts and PG of 16 consecutive children (7 boys, mean age 10.5 AE 4.2 years) with MPS IVA seen over a period of 3 years was performed. The prevalence of obstructive sleep apnea (OSA) was 69% with only five patients, all younger than 10 years old, having a normal PG. Four patients had mild OSA (apnea-hypopnea index [AHI] ≥1.5 and <5 events/hr), three patients had moderate OSA (AHI ≥5 and <10 events/hr), and three patients had severe OSA (AHI ≥ 10 events/hr). Among the 10 patients with OSA, 3 had prior adenoidectomy AE tonsillectomy and 6 were on enzyme replacement therapy. Only one patient had a central apnea index >5 events/hr despite prior cervico-occipital decompression. Six patients, all older than 11 years old, were started on CPAP or NIV because of severe OSA (n = 4), nocturnal hypoventilation (n = 1), or impossibility to be weaned from NIV after an acute respiratory failure (n = 1). Prevalence of OSA is high in patients with MPS IVA, underlying the importance of a systematic screening for sleep-disordered breathing. CPAP and NIV are efficient and well accepted for treating sleep-disordered breathing.

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Pathophysiology, evaluation, and management of sleep disorders in the mucopolysaccharidoses

Cited by 24 publications

References 48 publications

Mucolipidosis type III, a series of adult patients

Mucolipidosis type III, a series of adult patients

ENT and mucopolysaccharidoses

A retrospective study on sleep‐disordered breathing in Morquio‐A syndrome

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