Pathology of lipid storage myopathy presenting as polymyositis / 中华神经科杂志

Objective Some cases of lipid storage myopathy (LSM) are similar to the polymyositis(PM) in clinic.To study the muscle pathology is helpful as to making clear the diagnosis and elucidating the mechanism of the LSM. Methods 14 cases of LSM with high level of CK in serum were analyzed clinically and compared with their muscle morphological and histochemical changes.Results Muscle weakness and fatigue were the main complaints of these patients.Most of them had acute or sub acute onset,some of them had relapse courses.All of the muscle specimens showed typical accumulation of lipid in muscle fibers.Necrotic fibers were found in 9 cases,3 of them showed changes with the courses. Conclusion Muscle biopsies and histochemical studies are necessary to differentiate LMS with PM.The fiber necrosis and CK leakage in LSM may be caused by changes of the inter circumstance and the membrane disturbance of cells.

Vascular changes in Fabry disease / 中华神经科杂志

Objective To report the clinical and neuropathological features of two families with Fabry disease and discuss the role of vascular changes in pathological processes of the disease Methods The two probands came from different families were characterized as having severe pain in extremities,angiokeratoma and renal impairment In addition to burning feet,the family members presented with multi organ failure by the 4th or 5th decades Nerve suralis biopsies were performed in two probands and renal stereotactic biopsy was performed in the latter Results Much green material was accumulated in vascular smooth muscle cells and endothelial cells as well as in perineurium In semithin sections the accumulated material was composed of numerous osmiophilic granules Electromicroscopic examination demonstrated that the granules showed a electron dense or laminated pattern Similar osmiophilic granules were also found in kidney biopsy Additionally,loss of unmyelinated fibers appeared in nerve suralis Serum renin angiotensin system was activated in case 1 Conclusion Pathological findings confirmed the existence of Fabry disease in both families Vascular changes play an important role in early development of symptoms Additionally,elevated renin angiotensin activity may induce chronic hypertension ,which might accelerate the multi organ failure

Lipid storage myopathy and determination of serum free carnitine / 中华神经科杂志

Objective To determine the serum concentrations of free carnitine in lipid storage myopathy(LSM) and the roles in diagnosis,classification and therapy of LSM. Methods Fasting blood samples of 8 LSM cases identified by muscle biopsies, 9 cases of other neuromuscular diseases and 18 cases of normal controls were enzymatically analyzed for free carnitine levels. Results In 8 LSM cases serum values of free carnitine were 4.4?2.5 mg/L, in 9 cases with other neuromuscular disease, serum levels of free carnitine were 10.2?2.5 mg/L and in 18 normal controls,11.8?2.9 mg/L. LSM cases showed significant decrease of free carnitine concentrations as compared with normal controls and other patients with neuromuscular diseases (P

Therapeutic effects and long term follow-ups in 42 cases of lipid storage myopathy / 中华神经科杂志

Objective To clarify the clinical features,therapeutic strategy and prognosis of lipid storage myopathy (LSM).Methods The clinical data and therapeutic effects of 42 LSM patients were summarized retrospectively.All patients were followed up to evaluate their prognosis.Results Data of short-term therapeutic results of all the 42 patients were available.Thirty-three cases were placed in low- doses prednisone and 9 cases in riboflavin.All patients showed marked and quick improvement of symptoms within one month.Among thirty-two patients followed up for more than one year,26 cases had a full recovery and 6 remained to have intolerance to heavy exercise.Thirteen patients had relapses of muscle weakness in various degrees and most of which were induced by exertion,exposure to coldness and upper respiratory tract infection.In 5 patients the symptoms were recurred for more than one time.Among 13 cases with relapses, 7 had family history.Conclusions Our data suggest that LSM is a treatable disease and well responsive to low-doses prednisone.The disease tends to recur,especially in patients with family history.Glutaric aciduria type Ⅱ should be considered in LSM patients who are responsive well to riboflavin,indicating drug therapeutic strategy for LSM should be based on the etiology of the disease.

Evaluation of lipid accumulation in muscle fibers in inflammatory myopathies / 中华神经科杂志

Objective To study the frequency and correlate factors of lipid accumulation in muscle fibers in inflammatory myopathies Methods Muscle biopsy specimens were routinely processed for histopathological and histochemical studies Excepting inflammatory changes, lipid droplets were observed by ORO staining According to the amount of lipid droplets in the muscle fibers, these cases were separated into two groups, and then the differences in muscle power, serum CK level, morphologic changes of muscle, courses and corticosteroids administration between two groups were compared Results 37 7% specimens showed lipid accumulation in muscle fibers distinctly As compare with the lipid normal group, in the lipid increasing group, the generalized muscle fiber degenerating were more common and muscle weakness were more prominent Although more patients have long term therapy with steroid in lipid increasing group, there were no significant differences between these two groups Conclusions Lipid accumulation in muscle fibers was present in some patients with inflammatory myopathies Increasing of lipid droplets might result from the muscle fiber degenerating and might turn to impair the muscle function reversely