Sporadic late onset nemaline myopathy with concurrent dermatological symptoms responding to immunosuppressive treatment.

BACKGROUND: Sporadic late onset nemaline myopathy is a rare, progressive muscle disease, presenting in adulthood, mainly affecting proximal limb and bulbar muscles. Muscle biopsies show characteristic nemaline rods. The putative mechanism is considered immune-related. Other manifestations aside from neuromuscular symptoms have not been described previously. CASE PRESENTATION: We present a case with atypical sporadic late onset nemaline myopathy (SLONM) of a non-HIV, non-MGUS subtype, where skin manifestations preceded neuromuscular symptoms, and a residual thymus with the histology of thymic follicular hyperplasia was detected during the diagnostic workup. Thorough dermatological investigations could not explain the skin presentations. Muscle biopsy revealed variation in fiber diameter, ragged-red and COX-negative fibers associated with discrete fibrosis. Electron microscopy detected atrophic muscle fibres with disorganization of the myofibrils, nemaline rods and abnormal mitochondria. Single-fiber EMG suggested signs of a neuromuscular transmission defect, EMG showed signs of myopathy. Analyses of antibodies associated with myasthenia gravis were negative. The patient showed improvement after intravenous immunoglobulin treatment regarding both the skin and the muscle symptoms. CONCLUSIONS: Our case highlights the heterogeneity of SLONM with its varied spectrum of presentation. A unique combination of dermatological symptoms and SLONM could be seen with skin lesions as primary presenting symptoms. An association can be considered between the different manifestations, presumably based on immune etiology, where immunosuppressive therapy has been beneficial.

A case report revealing acute onset psychosis and cognitive impairment as primary manifestation in relapsing-remitting multiple sclerosis.

Acute psychosis and cognitive impairment is a significant problem in RRMS. As it concerns in relatively young age group, our case report underscores the importance of early recognition which could impose diagnostic challenge in multiple sclerosis.

Severe Rhabdomyolysis as Complication of Interaction between Atorvastatin and Fusidic Acid in a Patient in Lifelong Antibiotic Prophylaxis: A Dangerous Combination.

Atorvastatin and HMG-CoA reductase inhibitors are the most frequently used medication in the world due to very few adverse toxic side effects. One potentially life threatening adverse effect is caused by clinically significant statin induced rhabdomyolysis, either independently or in combination with fusidic acid. The patient in our case who previously had cardiac insufficiency, atrial fibrillation, and thoracic aorta aneurysm and was treated with insertion of an endovascular metallic stent in the aorta is presented in the report. He had an inoperable aortitis with an infected stent and para-aortic abscesses with no identified microorganism. The patient responded well to empirical antibiotic treatment with combination therapy of fusidic acid and moxifloxacin. This treatment was planned as a lifelong prophylactic treatment. The patient had been treated with atorvastatin for several years. He developed severe rhabdomyolysis when he was started on fusidic acid and moxifloxacin. The patient made a fast recovery after termination of treatment with atorvastatin and fusidic acid. We here report a life threatening complication of rhabdomyolysis that physicians must be aware of. This can happen either in atorvastatin monotherapy or as a complication of pharmacokinetic interaction between atorvastatin and fusidic acid.

Culture Negative Listeria monocytogenes Meningitis Resulting in Hydrocephalus and Severe Neurological Sequelae in a Previously Healthy Immunocompetent Man with Penicillin Allergy.

A previously healthy 74-year-old Caucasian man with penicillin allergy was admitted with evolving headache, confusion, fever, and neck stiffness. Treatment for bacterial meningitis with dexamethasone and monotherapy ceftriaxone was started. The cerebrospinal fluid showed negative microscopy for bacteria, no bacterial growth, and negative polymerase chain reaction for bacterial DNA. The patient developed hydrocephalus on a second CT scan of the brain on the 5th day of admission. An external ventricular catheter was inserted and Listeria monocytogenes grew in the cerebrospinal fluid from the catheter. The patient had severe neurological sequelae. This case report emphasises the importance of covering empirically for Listeria monocytogenes in all patients with penicillin allergy with suspected bacterial meningitis. The case also shows that it is possible to have significant infection and inflammation even with negative microscopy, negative cultures, and negative broad range polymerase chain reaction in cases of Listeria meningitis. Follow-up spinal taps can be necessary to detect the presence of Listeria monocytogenes.