ABSTRACT
OBJECTIVE: Pompe disease is an autosomal recessive lysosomal disorder caused by α-glucosidase deficiency. A specific treatment for the disease with enzyme replacement therapy is currently available. The aim of the present study is to describe the clinical manifestations and the effect of treatment in the first Greek patients with the adult form of the disease. METHODS: Five Greek patients with adult onset Pompe disease aged between 40 and 73 years received 20 mg/kg Myozyme intravenously at two weekly intervals over a different period. Clinical and functional parameters were longitudinally registered. RESULTS: Proximal muscle weakness and respiratory insufficiency were the most common manifestations of the disease, but their severity was different even among patients with similar genotype. The effect of treatment varied with most patients experiencing some improvement in muscle strength and fatigability, while the most severely affected patient did not benefit and stopped therapy. CONCLUSION: No clear genotype-phenotype correlation emerges from our study. The different effect of treatment on our patients seems to be mainly related to their pre-treatment condition and can be reliably assessed only on a long term basis.
Subject(s)
Enzyme Replacement Therapy , Glycogen Storage Disease Type II/drug therapy , Glycogen Storage Disease Type II/physiopathology , alpha-Glucosidases/therapeutic use , Adult , Age of Onset , Aged , Biopsy , Electromyography , Enzymes/blood , Female , Gait Disorders, Neurologic/etiology , Gait Disorders, Neurologic/physiopathology , Genotype , Glycogen Storage Disease Type II/enzymology , Greece , Humans , Male , Middle Aged , Muscle Fatigue/physiology , Muscle Strength/physiology , Muscle, Skeletal/pathology , Phenotype , Respiratory Function Tests , Treatment OutcomeABSTRACT
A 39-year-old man presented pronounced asthenia and diffuse myalgias 8 months after a vaccination against the tetanus toxoid. Muscle biopsy disclosed infiltration of the perimysium and endomysium by densely packed, PAS-positive macrophages. Tropheryma whippelii detection in blood and faeces allowed the initial assumption of atypical Whipple's disease with isolated muscle involvement. However, the histological detection of aluminium-containing macrophages by means of Morin stain immunofluorescence established the diagnosis of macrophagic myofascitis in an obviously asymptomatic T. whippelii carrier.
