Resolution of muscle inflammation after tumor removal in a woman with paraneoplastic dermatomyositis

No abstract availabl

Small fibre neuropathy in mitochondrial diseases explored with sudoscan

Objective: Polyneuropathy in mitochondrial diseases (MDs) is relatively common and widely investigated, but few data are instead reported about small fibres involvement. Methods: In order to investigate the involvement of small fibres in MDs we performed extensive neurophysiological test (nerve conduction studies; sympathetic skin response; sudoscan) in 27 patients with genetic diagnosis of MD (7 m.3243A > G; 4 m.8344A > G; 9 single mtDNA deletion; 7 multiple mtDNA deletions). Results: NCS showed a polyneuropathy in 11/27 cases (41%). The incidence was very high in POLG1 (100%), m.8344A > G (75%) and m.3243A > G (43%), while only 11% of patients with single deletion had evidence of large fibres involvement. Sympathetic skin response was abnormal only in three patients (one progressive external ophthalmoplegia with single mtDNA deletion; one patient with m.3243A > G mutation; one patient with POLG1 mutation). Sudoscan revealed the presence of an autonomic small fibres dysfunction in 9/27 cases (33%), most of them (7/9) carrying a single mtDNA deletion. Sudoscan data were also confirmed in a sub-group of patients by laser evoked potentials study. Considering only patients with single mtDNA deletion 7/9 (78%) showed abnormal results at sudoscan. Conclusions: Small fibre neuropathy is another feature to investigate in mitochondrial diseases and seems specifically associated with the presence of single mtDNA deletion. Significance: The correct identification through specific neurophysiological tests of small fibres involvement in MDs represents another tile in this challenging diagnosis

Acute refractory intestinal pseudo-obstruction in melas: Efficacy of prucalopride

Acute refractory intestinal pseudo-obstruction in MELAS: efficacy of prucaloprid

Neurological involvement during Legionellosis, look beyond the lung

Legionnaires\u2019 disease still represents a relevant cause of all admitted pneumonia cases, with a remarkable average mortality rate. Extrapulmonary manifestations of Legionellosis are frequently described, principally involving the heart, the kidney, the gut, and the central nervous system (CNS). We report a patient with an immune-mediated Legionella pneumophila induced cerebellar dysfunction and corpus callosum lesion (SCC) successfully treated with high dose intravenous immunoglobulins (IVIG)

Hypoglossal palsy and coeliac disease: an uncommon presentation for a common disease?

The hypoglossal nerve is responsible for motor innervation to the intrinsic and extrinsic muscles of the tongue. Nerve nuclei are located in paramedian position in the medulla oblongata from which, anteriorly, the rootlets exit and merge into hypoglossal canal. Emerging from skull base, the nerve passes through nasopharyngeal space near to the internal carotid artery and internal jugular vein; at hyoid bone level, it curves anteriorly and enters the muscle of the tongue. Knowing the anatomy of hypoglossal nerve is fundamental to understand the symptoms and analytically examine the numerous and different pathologic conditions causing nerve dysfunction. Usually tongue weakness is a part of more complex clinical picture: intramedullary lesions generally involve adjacent nuclei or tracts, while peripheral lesions involve other cranial nerves. Instead, isolated hypoglossal nerve palsy is a rare condition. In the most large series on the topic [1], among 100 patients twelve-nerve paralysis was prominent in only 5 cases. As regard etiology, different causes are known: tumors, trauma, carotid artery dissection, infection, multiple sclerosis, dural arteriovenous fistula, Chiari malformation, stroke, surgical and anaesthesiological procedures, kinking of the vertebral artery, radiotherapy [1]. In the patient described here, none of these causes were identified despite of the extensive laboratory and radiological investigations. We then classified this case idiopathic IHP and reviewed the literature as summarized in Table 1. To our knowledge, this is the first report of a possible association between IHP and CD. However, we believe that this condition may be more frequent than is thought. Notably, indeed, in none of the cases above listed and classified as idiopathic IHP, screening tests for gluten sensitivity were made. Neurological complications in CD are well-known. Peripheral neuropathy has been found in up to 49% of CD patients. The most common presentation is chronic distal, symmetric, predominantly sensory neuropathy even if other conditions have also been reported such as motor neuropathy, mononeuritis multiplex, Guillain\u2013Barr\ue9-like syndrome, autonomic neuropathy. The involvement of cranial nerves has been found by Jacob et al. [3] in two cases of gluten sensitivity presenting as neuromyelitis optica. Interestingly, like in our report, both patients showed a significant clinical improvement and reduction of TTG and AGA following steroid treatment and the introduction of a gluten free diet. The pathogenesis of neuronal damage in CD is still unclear. Nutritional deficiencies secondary to malabsorption may contribute to the development of neurological deficits, but do not fully explain all the cases.Immunemechanisms have been also proposed and antiganglioside antibodies were found in CD patients with neuropathy. These antibodies recognize various epitopes in the peripheral nervous system and can be associated with autoimmune neuropathies (e.g. Miller\u2013Fisher syndrome, multifocal motor neuropathy). Our patient showed increase in titer of anti-GM1 IgG. The hypothesis of Hadjivassiliou et al. [4] is that anti-transglutaminase antibodies, interacting with transglutaminase present in arterial wall, cause perivascular inflammation and damage in blood\u2013nerve barrier. So, antiganglioside antibodies, induced in gut from the interaction between gliadin and ganglioside-rich intestinal brush border membrane, can cross the barrier and, binding neural antigens, produce dysfunction. Accordingly, in our patient the left hypoglossossal nerve appeared swollen and hyperintense at MRI with homogeneous gadolinium-enhancement indicating an active state of inflammation. In summary, we reported an unusual presentation of a previously unrecognized CD in an adult patient with acute onset of unilateral IHP that fully recovered with GFD and prednisone in few months. Surely, a single report is not enough to demonstrate with certainty the casual link between these conditions and more specifically designed studies are needed to clarify the nature of this presumable association. However, in consideration of the high frequency in general population of CD, an easily treatable disorder, we suggest to add CD serological screening to diagnostic panel for IHP

Mitochondrial neuropathy: considerations on pathogenesis

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"Myo-cardiomyopathy" is commonly associated with the A8344G "MERRF" mutation

The objective of the study was to better characterize the clinical phenotype associated with the A8344G "MERRF" mutation of mitochondrial DNA. Fifteen mutated patients were extensively investigated. The frequency of main clinical features was: exercise intolerance and/or muscle weakness 67 %, respiratory involvement 67 %, lactic acidosis 67 %, cardiac abnormalities 53 %, peripheral neuropathy 47 %, myoclonus 40 %, epilepsy 40 %, ataxia 13 %. A restrictive respiratory insufficiency requiring ventilatory support was observed in about half of our patients. One patient developed a severe and rapidly progressive cardiomyopathy requiring cardioverter-defibrillator implantation. Five patients died of overwhelming, intractable lactic acidosis. Serial muscle MRIs identified a consistent pattern of muscle involvement and progression. Cardiac MRI showed non-ischemic late gadolinium enhancement in the left ventricle inferolateral part as early sign of myocardial involvement. Brain spectroscopy demonstrated increased peak of choline and reduction of N-acetylaspartate. Lactate was never detected in brain areas, while it could be documented in ventricles. We confirm that muscle involvement is the most frequent clinical feature associated with A8443G mutation. In contrast with previous reports, however, about half of our patients did not develop signs of CNS involvement even in later stages of the disease. The difference may be related to the infrequent investigation of A8344G mutation in 'pure' mitochondrial myo-cardiomyopathy, representing a bias and a possible cause of syndrome's underestimation. Our study highlights the importance of lactic acidosis and respiratory muscle insufficiency as critical prognostic factors. Muscle and cardiac MRI and brain spectroscopy may be useful tools in diagnosis and follow-up of MERRF

R208H-129VV haplotype in the prion protein gene: phenotype and neuroimaging of a patient with genetic Creutzfeldt-Jakob disease.

The phenotype and the neuroimaging of a patient affected by a genetic CJD has been described in relation to the R208H-129VV haplotype detected in the prion protein gene analysis

Rippling muscle disease and cardiomyopathy associated with a mutation in the CAV3 gene

Caveolin-3, the myocyte-specific isoform of caveolins, is preferentially expressed in skeletal, cardiac and smooth muscles. Mutations in the CAV3 gene cause clinically heterogeneous neuromuscular disorders, including rippling muscle disease, or cardiopathies. The same mutation may lead to different phenotypes, but cardiac and muscle involvement rarely coexists suggesting that the molecular network acting with caveolin-3 in skeletal muscle and heart may differ. Here we describe an Italian family (a father and his two sons) with clinical and neurophysiological features of rippling muscle disease and heart involvement characterized by atrio-ventricular conduction defects and dilated cardiomyopathy. Muscle biopsy showed loss of caveolin-3 immunosignal. Molecular studies identified the p.A46V mutation in CAV3 previously reported in a German family with autosomal dominant rippling muscle disease and sudden death in few individuals. We suggest that cardiac dysfunction in myopathic patients with CAV3 mutations may be underestimated and recommend a more thorough evaluation for the presence of cardiomyopathy and potentially lethal arrhythmias