13 research outputs found
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
"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