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
INTRODUCTION: Superficial siderosis of the central nervous system is a neurologic disorder mainly characterized by cerebellar involvement, myelopathy, neurosensory hearing loss, and possibly progressive cognitive impairment. Root avulsion due to traumatic plexus injury has been recognized as an extremely rare cause of hemosiderin deposition on leptomeninges and subpial layers of brain and spinal cord parenchyma. CASE REPORT: A 49-year-old man presented with progressively evolving ataxia and spastic paraparesis. CSF oligoclonal bands were indicative of an underlying inflammatory process and raised the possibility of a demyelinating disorder. However, spinal cord and brain MRI revealed hemosiderin deposition along the entire neuraxis. A rigorous electrophysiologic study confirmed a functional impairment in many different levels of the nervous system. CONCLUSION: The demonstration of CSF oligoclonal bands in the reported patient implies that inflammation might be involved in the pathogenesis of superficial siderosis. The diagnosis of this newly recognizable entity needs a high clinical suspicion, but further research is needed to fully elucidate the involved mechanisms.
