The pattern of involvement of adult‐onset acid maltase deficiency at autopsy

Abstract

The autopsy findings in a clinically and biochemically documented case of adult-onset acid maltase deficiency presenting with limb girdle myopathy are presented. The skeletal muscles, tongue, extraocular and smooth muscles of gut and arterioles showed a vacuolar myopathy, most severely affecting proximal skeletal muscles. Muscle spindles were severely affected in all muscles. The heart showed basophilic degeneration and a vacuolar myopathy. The visceral organs and nervous system were morphologically normal. Possible mechanisms for this differential involvement of muscles and tissues are discussed.

Urge Incontinence and Gastrointestinal Symptoms in Adult Patients with Pompe Disease: A Cross-Sectional Survey

“…Nevertheless, in most patients, urge symptoms persisted and did not seem to respond to ERT. An accumulation of glycogen in the smooth muscles of the lamina muscularis in all parts of the gastrointestinal tract but also in the urinary bladder has been frequently demonstrated in the mice models of glycogen storage disease type II and also in autopsies of patients with infantile and adult Pompe disease (Van der Walt et al 1987;Bijvoet et al 1999;Winkel et al 2003;Kobayashi et al 2010;Hobson-Webb et al 2012). Therefore, evidence suggests that disturbed smooth muscles cause the symptoms of bowel and urinary incontinence.…”

“…abdominal pain, poor weight gain, chronic diarrhoea, postprandial discomfort) and Gaucher disease (weight loss, cachexia, abdominal pain) and were reported to respond well to ERT (Verderese et al 1993;Banikazemi et al 2005). The lysosomal accumulation of glycogen in smooth muscles in different organs was shown in a GAA knockout mouse model (Bijvoet et al 1999), in infantile Pompe disease (Winkel et al 2003) and in autopsies (including the organs of the gastrointestinal tract and the urinary tract; Swash et al 1985;van der Walt et al 1987;Kobayashi et al 2010;Hobson-Webb et al 2012 ), in biopsies of the arrector pili muscle (Katona et al 2014), and in imaging studies of cerebral vessels of adult Pompe disease cases (Sacconi et al 2010;Hobson-Webb et al 2012).…”

Expanding Our Understanding of Lower Urinary Tract Symptoms and Incontinence in Adults with Pompe Disease

“…An alternative etiology could be the effect on the autonomic nervous system and peripheral nerves that innervate the lower urinary tract. Pompe disease does affect the peripheral nerves, and glycogen may deposit in the axons, although there is conflicting data (van der Walt et al 1987;Kobayashi et al 2010;Fidzianska et al 2011). The symptomatology may direct us to study the detrusor smooth muscle of the bladder, and skeletal muscles of the internal and external sphincter and the pelvic floor in LOPD, all of which play key roles in voiding and continence.…”

“…These findings support the various clinical symptoms of the disease seen in this population such as urinary and fecal incontinence, dysphagia, gastroesophageal reflux, and gastrointestinal dysmotility. Urinary incontinence has been previously described in other neuromuscular and neurological disorders but has not yet been studied within the LOPD population (van der Walt et al 1987;Kobayashi et al 2010;Fidzianska et al 2011). There are case reports that look at incontinence, mainly fecal incontinence, with relationship to enzyme replacement therapy (ERT) (Remiche et al 2012).…”

Muscle computed tomography in adult-onset acid maltase deficiency

“…The adult form of the disease presents as a slowly evolving limb girdle myopathy. 1,4,13 In the literature only a few reports can be found concerning muscle computed tomography (CT) in patients with adult-onset Pompe's disease. 3,7,10,14 In this article we present the muscle CT patterns in 9 Pompe patients (5 men, 4 women, age 41-60 years; diagnosis confirmed by decreased levels of acid maltase in leukocytes).…”