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

Abstract

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.

Evaluation of sleep‐disordered breathing and its relationship with respiratory parameters in children with mucopolysaccharidosis Type IVA and VI

“…In the present study, CSA was observed in only two patients (MPS IVA/MPS VI: 1/1) who had no history of neurologic deficit or cervico‐occipital surgery and the cause of the CSA was unknown. Facchina et al (2018) defined CSA in a patient with MPS IVA who had cervico‐occipital decompression, Nashed et al (2009) presented a patient with MPS I with both OSA and CSA in their study, and Kurihara et al (1992) showed CSA in a patient with MPS II whose brain biopsy revealed dilated lateral ventricles and diffuse atrophy with massive accumulation of gangliosides in the neurons. Central sleep apnea may be due to cervico‐occipital decompression and respiratory center dysfunction caused by glycosaminoglycan deposition in patients with MPS.…”

“…Enzyme replacement therapy is recommended as the standard therapy for MPS I, II, VIA, and VI (Harmatz et al, 2004; Lin, Chen, Chuang, et al, 2010b; Lin, Chen, Lin, et al, 2010a; Ohashi, 2012; Rapoport & Mitchell, 2017). ERT has been shown to improve sleep apnea (Facchina et al, 2018; Lin, Chen, Chuang, et al, 2010b; Lin, Chen, Lin, et al, 2010a). We could not draw any firm conclusions about the efficacy of ERT in reducing the severity or preventing OSA in patients with MPS IVA and MPS VI because our cohort consisted of patients who were under ERT.…”