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Anaesthetic Management of Two Patients with Pompe Disease for Caesarean Section

DOI: 10.1155/2014/650310

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The introduction of enzyme replacement therapy and the resultant stabilisation or improvement in mobility and respiratory muscle function afforded to patients with late-onset Pompe may lead to an increased number of Pompe patients prepared to accept the challenges of parenthood. In this case report, we describe our anaesthetic management of two patients with Pompe disease for a caesarean section. 1. Introduction Pompe disease (PD), also referred to as acid maltase deficiency (AMD) or glycogen storage disease type II (GSDII), is an autosomal recessive disorder caused by a deficiency of the lysosomal enzyme acid-α-glucosidase (GAA) [1]. In PD, lysosomal glycogen accumulates in many tissues with skeletal, cardiac, and smooth muscle most prominently involved. Severity varies according to the age of onset; the degree and severity of skeletal, cardiac, and respiratory muscle involvement; and rate of disease progression. The combined incidence of all forms of PD is estimated to be 1?:?40.000 [2]. In general, disease severity is inversely related to residual acid-α-glucosidase activity. Although PD is often classified into two separate phenotypes—infantile and late onset—based on age of onset of symptoms, PD is a clinical disease spectrum. Patients with infantile PD, present in the first few months of life with a hypertrophic cardiomyopathy, generalized muscle weakness and hypotonia. Without enzyme treatment death due to cardiorespiratory failure occurs within the first year of life. Late-onset PD can present at any age and is characterized by the absence of cardiac involvement and a less dismal short-term prognosis. Symptoms are related to progressive skeletal muscle dysfunction. Proximal lower limb and paraspinal trunk muscles are usually affected first, followed by involvement of the diaphragm and accessory muscles of respiration. As the muscle weakness worsens, patients often become wheelchair dependent and may require assisted ventilation. Respiratory failure is the usual cause of increasing morbidity and mortality. Alglucosidase alfa (recombinant GAA (rhGAA), Myozyme/Lumizyme) has been shown to be effective in the treatment of patients with early- and late-onset PD [3]. Individual response to enzyme replacement therapy (ERT) is however variable and determined by many factors: age of presentation, the rate of disease progression, muscle fibre type, defective autophagy, underlying genotype, and the development of rhGAA specific antibodies. In this case report we describe the anaesthetic management of two patients with PD for a caesarean section. 2. Case


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