- Comparative quantitative clinical, neuroimaging, and functional profiles in children with acute flaccid myelitis at acute and convalescent stages of disease. [Journal Article]
- DMDev Med Child Neurol 2018 Sep 17
- CONCLUSIONS: While patients may show marked improvement on neuroimaging from acute to convalescent stages, the majority of children with AFM have limited motor recovery and continued disability. Clinicians should consider the timing of clinical and neuroimaging exams when assessing diagnosis and prognosis.During the 2014 to 2017 acute flaccid myelitis outbreak in the USA, clinical recovery was better in distal than proximal muscle groups. Lumbar spinal cord showed more residual abnormalities at convalescence.
- Acute Sarcomeric M-Line Disease Associated With ATP Synthase Subunit α Autoantibodies in Ankylosing Spondylitis. [Journal Article]
- JNJ Neuropathol Exp Neurol 2018 Sep 12
- M-line is the narrow transverse band located in the center of the sarcomeric A-band that is mainly responsible for the stabilization of myosin thick filaments. A 27-year-old male patient with a posit...
M-line is the narrow transverse band located in the center of the sarcomeric A-band that is mainly responsible for the stabilization of myosin thick filaments. A 27-year-old male patient with a positive medical history for ankylosing spondylitis presented with one month of proximal upper limb muscle weakness associated with pain on both acromioclavicular joints. A biopsy of deltoid muscle documented the disappearance of M-line, the misalignment of myofilaments, and the loss of the distinction between the A and I bands. Complete resolution of muscle weakness occurred after one year of treatment with antiTNFα agent Etanercept. Because of the acute onset of symptoms and the recovery after immunosuppressive treatment we hypothesized that an immune-mediated mechanism was responsible for the muscle disorder. The serum IgG-mediated autoreactivity to skeletal muscle antigens resolved by bidimensional electrophoresis was assessed in the described patient and compared with that of control subjects. The comparative analysis of the immunoreactive spots revealed that ATP synthase subunit α is specifically recognized by patient's serum, suggesting that the protein might represent a putative antigenic target in the disease. This study reports an acute reversible myopathy pathologically characterized by M-line involvement and associated with serological antibodies to the subunit α of ATP synthase.
- Stimulated single-fiber electromyography (sSFEMG) in Lambert-Eaton syndrome. [Journal Article]
- CNClin Neurophysiol Pract 2018; 3:148-150
- To report the clinical features and the neurophysiological approach of a patient with Lambert-Eaton myasthenic syndrome (LEMS), highlighting the diagnostic role of the stimulated single fiber electro...
To report the clinical features and the neurophysiological approach of a patient with Lambert-Eaton myasthenic syndrome (LEMS), highlighting the diagnostic role of the stimulated single fiber electromyography (sSFEMG).
- Painful Proximal Weakness and HyperCKemia Related to Intravenous Loading of Phenytoin. [Journal Article]
- CJCan J Neurol Sci 2018 Sep 13; :1-3
- Statin-naïve anti-HMGCR antibody-mediated necrotizing myopathy in China. [Review]
- JCJ Clin Neurosci 2018 Sep 08
- This study aimed to clarify the phenotypes and therapeutic responses of statin-naïve anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) antibody-mediated necrotizing myopathy. Anti-HMGCR an...
This study aimed to clarify the phenotypes and therapeutic responses of statin-naïve anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) antibody-mediated necrotizing myopathy. Anti-HMGCR antibodies were tested with ELISA methodology in the sera sample of 98 patients meeting the idiopathic inflammatory myopathy criteria and with negative anti-signal recognition particle (SRP) antibody. Twenty-one statin-naïve patients with anti-HMGCR antibody were detected (21.4%), with onset age from 6 to 67 years old. Proximal weakness and neck flexion weakness was the core neurological feature. The average maximal creatine kinase (CK) level was 7968.6 ± 4408.7U/L. Muscle MR imaging showed edema (88.2%), moderate or severe fatty replacement (70.6%) and muscle atrophy (88.2%) in lower limbs. Fatty replacement was significantly more prominent in the medial and posterior musculature than the anterior musculature (p = 0.0013). Seven (33.3%) patients were treated with mono-glucocorticoid, and thirteen (61.9%) patients needed adjuvant immunosuppressant. Eight (38.1%) patients experienced symptom relapse. The early-onset patients (<50 years old) were found with higher CK levels, shorter duration course, poorer response to adjuvant immunosuppressant and more recurrent weakness than the late-onset patients (≥50 years old). As a conclusion, Statin-naïve anti-HMGCR antibody-mediated necrotizing myopathy may not be rare. Compared with late-onset statin-naïve patients with anti-HMGCR antibody-mediated necrotizing myopathy, early-onset patients presented severer clinical features and worse therapeutic responses.
- Graves' disease and celiac disease in a patient with myotonic dystrophy type 2. [Journal Article]
- NDNeuromuscul Disord 2018 Jul 20
- We report a patient with progressive proximal muscle weakness in her legs, early-onset cataract and perceptive hearing loss, who was recently diagnosed with myotonic dystrophy type 2 (DM2). She also ...
We report a patient with progressive proximal muscle weakness in her legs, early-onset cataract and perceptive hearing loss, who was recently diagnosed with myotonic dystrophy type 2 (DM2). She also had two autoimmune disorders in her history, namely Graves' disease and celiac disease. Previous studies have shown a high frequency of autoimmune diseases (21%) in patients with DM2. This is the first report of a patient with DM2 and two autoimmune diseases which both have not yet been described in DM2. The cause of this association might be explained at DNA, mRNA and protein levels, including genetic mutation in flanking genes and the toxic effect of the DM2 mutation on proteins involved in inflammation. This case report widens the spectrum of autoimmune diseases in DM2 and has implications both for clinical practice and for research.
- Acute respiratory failure as presentation of late-onset Pompe disease complicating the diagnostic process as a labyrinth: a case report. [Journal Article]
- MRMultidiscip Respir Med 2018; 13:32
- Acute respiratory failure can be triggered by several causes, either of pulmonary or extra-pulmonary origin. Pompe disease, or type II glycogen storage disease, is a serious and often fatal disorder,...
Acute respiratory failure can be triggered by several causes, either of pulmonary or extra-pulmonary origin. Pompe disease, or type II glycogen storage disease, is a serious and often fatal disorder, due to a pathological accumulation of glycogen caused by a defective activiy of acid α-glucosidase (acid maltase), a lysosomal enzyme involved in glycogen degradation. The prevalence of the disease is estimated between 1 in 40,000 to 1 in 300,000 subjects.
- X-linked Charcot-Marie-Tooth disease type 5 with recurrent weakness after febrile illness. [Journal Article]
- BDBrain Dev 2018 Aug 31
- X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) is an X-linked disorder characterized by early-onset sensorineural hearing impairment, peripheral neuropathy, and progressive optic atrophy. It is ...
X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) is an X-linked disorder characterized by early-onset sensorineural hearing impairment, peripheral neuropathy, and progressive optic atrophy. It is caused by a loss-of-function mutation in the phosphoribosyl pyrophosphate synthetase 1 gene (PRPS1), which encodes isoform I of phosphoribosyl pyrophosphate synthetase (PRS-I). A decreased activity leads to nonsyndromic sensorineural deafness (DFN2), CMTX5, and Arts syndrome depending upon residual PRS-I activity. Clinical and neurophysiological features of pediatric CMTX5 are poorly defined. We report two male siblings with peripheral neuropathy and prelingual sensorineural hearing loss who carried a novel c.319A>G (p.Ile107Val) PRPS1 missense mutation. They exhibited recurrent episodes of transient proximal muscle weakness, showing Gowers' sign and waddling gait after suffering from febrile illness. This transient weakness has not been previously reported in CMTX5. A patient with Arts syndrome was reported to have transient proximal weakness after febrile illness. The transient weakness presenting in both CMTX5 and Arts syndrome suggests an overlap of signs and a continuous spectrum of PRS-I hypoactivity disease. Children presenting with transient neurological signs should be evaluated for peripheral neuropathy and consider genetic analysis for PRPS1.
- Severe hypophosphatemia induced by denosumab in a patient with osteomalacia and tenofovir disoproxil fumarate-related acquired Fanconi syndrome. [Journal Article]
- OIOsteoporos Int 2018 Aug 31
- Denosumab, a novel agent that inhibits osteoclasts, reduces the risk of fracture in patients with osteoporosis. However, worsening of hypophosphatemia and other symptoms may be induced by denosumab i...
Denosumab, a novel agent that inhibits osteoclasts, reduces the risk of fracture in patients with osteoporosis. However, worsening of hypophosphatemia and other symptoms may be induced by denosumab in patients with pre-existing hypophosphatemic osteomalacia. A 58-year-old man with hepatitis B presented with diffuse bone pain and muscle weakness. Denosumab was prescribed by the orthopedist according to documented low bone mass and spine compression fracture. After administering denosumab, the patient's bone pain worsened, and he later developed a right tibia stress fracture. His condition was diagnosed as adult-onset hypophosphatemic osteomalacia complicated by multiple bone fractures, which resulted from Fanconi syndrome with proximal tubulopathy due to tenofovir disoproxil fumarate (TDF) treatment for his hepatitis B. Denosumab use leads to aggressive hypophosphatemic osteomalacia and the complication of stress fractures, because of its effects on bone resorption. Physicians should be aware that in patients with chronic hepatitis B monoinfection who are administered TDF therapy, bone pain or fracture is possible but preventable by timely monitoring of serum phosphate levels. Denosumab should not be used in patients with untreated osteomalacia or vitamin D deficiency, as it may lead not only to hypocalcemia but also to hypophosphatemia in these patients.
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- Tacrolimus-Induced Remission in Drug Resistant Inflammatory Myopathy: A Case Series. [Journal Article]
- RRheumatology (Sunnyvale) 2018; 8(2)
- Idiopathic inflammatory myopathies are rare autoimmune disorders characterized by proximal muscle weakness, elevation of muscle enzymes, abnormal electromyogram and imaging studies revealing areas of...
Idiopathic inflammatory myopathies are rare autoimmune disorders characterized by proximal muscle weakness, elevation of muscle enzymes, abnormal electromyogram and imaging studies revealing areas of edema and inflammation. Initial approach to inflammatory myopathies includes steroids and immunosuppressive agents, with most individuals responding satisfactorily to therapy. However, treatment-refractory myopathies prompts clinicians to use second line agents to achieve remission. In this case series, we describe three patients with refractory idiopathic inflammatory myopathies who were treated with tacrolimus (TAC) added to mycophenolate mofetil (MMF) and steroid therapy, who achieved clinical and biochemical remission.