Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management

The mucopolysaccharidoses (MPSs) are inherited lysosomal storage disorders caused by the absence of functional enzymes that contribute to the degradation of glycosaminoglycans (GAGs). The progressive systemic deposition of GAGs results in multi-organ system dysfunction that varies with the particular GAG deposited and the specific enzyme mutation(s) present. Cardiac involvement has been reported in all MPS syndromes and is a common and early feature, particularly for those with MPS I, II, and VI. Cardiac valve thickening, dysfunction (more severe for left-sided than for right-sided valves), and hypertrophy are commonly present; conduction abnormalities, coronary artery and other vascular involvement may also occur. Cardiac disease emerges silently and contributes significantly to early mortality

Posthemiplegic dystonia [Posthemiplejik Distoni]

Posthemiplegic dystonia is a rare complication of cerebrovascular accidents. Delayed onset of unilateral involuntary movements results in with abnormal postures after recovery from hemiplegia. Clinical features of posthemiplegic dystonia and therapeutic approaches to this disorder is reviewed with a case report. In our case, we observed improvement of the distonic posture with pharmacotherapy and this improvement is supported with EMG reports. Management of posthemiplegic dystonia needs further investigation