ABSTRACT
Introduction: Tangier disease (TD) is an autosomal recessive disorder characterized by severe reduction in high‐density lipoprotein and accumulation of cholesterol esters in peripheral ...nerves and other tissues. The aim of this study was to evaluate whether nerve high‐resolution ultrasonography (HRUS) can detect morphological nerve changes in TD. Methods: Three related patients of a previously reported Italian family with Tangier disease, carrying the Y1698X mutation in ABCA1, underwent clinical, neurophysiological, and quantitative nerve HRUS evaluation. Nerve HRUS data were compared with normal controls. Results: Despite neurophysiological abnormalities, no quantitative HRUS abnormality was detected in peripheral nerves. Discussion: Normalcy of HRUS in neurophysiologically abnormal nerves suggests possible subtle abnormalities that escape quantitative HRUS detection. Systematic studies in larger TD cohorts with different mutations are needed to confirm our findings. Muscle Nerve 59:587–587, 2019
Objectives
To evaluate, in a prospective study, high-resolution ultrasound (HRUS) changes of nerve segments in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and their relationships ...with clinical and electrodiagnostic (EDX) characteristics.
Methods
Twenty-three consecutive patients with CIDP were included in a 3-year follow-up (FU) study. Each patient underwent neurologic examination, EDX and HRUS study. HRUS was performed on median, ulnar and peroneal nerves, yielding a total of 319 scanned nerve segments. INCAT and MRC-sum scores, motor nerve conduction velocity (NCV), compound muscle action potential (cMAP) amplitude, and nerve cross-sectional area (NCSA) were collected at baseline and at FU end, and were used for statistical analysis. Twenty-two healthy individuals, matched to patients for age and BMI, served as controls.
Results
NCSA was higher in patients than in controls (
p
< 0.0001) and showed significant direct correlation with disease severity, and inverse correlation with NCV and cMAP amplitude, both at baseline and at FU end. Disease duration, clinical scores and EDX were predictors of NCSA enlargement at both time points. During FU, NCSA increased in 51% of nerve segments (
p
= 0.006), in correlation with INCAT increase and with NCV and cMAP reduction. Considering EDX changes in subgroups that reflect the different types of nerve damage, NCSA significantly increased in those nerve segments that from normal EDX switched to prevalent myelinopathic EDX characteristics.
Conclusions
Peripheral nerve size tends to increase over time in patients with CIDP, in correlation with clinical and EDX changes, in particular in those nerve segments that undergo a predominantly demyelinating damage.
The reported incidence of pregnancy‐related carpal tunnel syndrome (PRCTS) ranges from 0.8% to 70%, and little is known of its natural history. We systematically reviewed the reported incidence of ...PRCTS and evaluated its natural history. We identified 214 studies that fulfilled our selection criteria. Six publications fulfilled the inclusion criteria. Five fulfilled the incidence criteria, 3 fulfilled the natural history criteria, and 2 of the 6 publications satisfied both. The reported incidence of neurophysiologically confirmed PRCTS ranged from 7% to 43%, whereas the incidence of clinically diagnosed PRCTS ranged from 31% to 62%. Symptoms persisted in more than 50% of the patients after 1 year and in about 30% after 3 years. Our review suggests that variations in the reported incidence of PRCTS largely depend on the methods used to detect this syndrome. Our data also suggest that symptoms persist in a substantial number of patients 1 or more years after delivery. Muscle Nerve 42: 697–702, 2010
Introduction
Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) remains a diagnostic challenge due to clinical, neurophysiological, and laboratory findings suggestive of other ...diagnoses, particularly chronic inflammatory demyelinating polyneuropathy (CIDP). In this cross-sectional prospective study, we aimed to investigate the utility of high-resolution ultrasonography of peripheral nerves as a diagnostic tool to differentiate ATTRv-PN from CIDP.
Methods
In 11 treatment-naive patients with genetically confirmed late-onset ATTRv-PN and 25 patients with CIDP, we collected clinical, electrodiagnostic, and high-resolution ultrasonography data of the peripheral nerves. In each patient, we used high-resolution ultrasonography to assess 26 nerve sites.
Results
Of the 11 patients with ATTRv-PN, two had electrodiagnostic study data compatible with a CIDP diagnosis. High-resolution ultrasonography showed that the cross-sectional area of the brachial plexus, median nerve at the axilla, arm, and forearm, ulnar nerve at the forearm, and peroneal nerve at the popliteal fossa were significantly smaller in the 11 ATTRv-PN patients than in CIDP patients. However, in the two patients with electrodiagnostic study data compatible with a CIDP diagnosis, high-resolution nerve ultrasonography data were comparable to those in patients with CIDP.
Conclusion
Although high-resolution ultrasonography of peripheral nerves provides reliable information in patients with ATTRv-PN, its usefulness as a standalone diagnostic tool to differentiate ATTRv-PN from CIDP might be limited.
Although classical trigeminal neuralgia (CTN) is frequently caused by neurovascular contact (NVC) at the trigeminal root entry zone (REZ), both anatomical and MRI studies have shown that NVC of the ...trigeminal nerve frequently occurs in individuals without CTN. To assess the accuracy of MRI in distinguishing symptomatic from asymptomatic trigeminal NVC, we submitted to high-definition MRI the series of CTN patients referred to our outpatient service between June 2011 and January 2013 (n=24), and a similar number of age-matched healthy controls. Two neuroradiologists, blinded to the clinical data, evaluated whether the trigeminal nerve displayed NVC in the REZ or non-REZ, whether it was dislocated by the vessel or displayed atrophy at the contact site, and whether the offending vessel was an artery or a vein. Our data were meta-analyzed with those of all similar studies published from January 1970 to June 2013. In our sample, REZ contact, nerve dislocation and nerve atrophy were independently associated with CTN (P=.027; P=.005; P=.035 respectively). Compared to a rather low sensitivity of each of these items (alone or in combination), their specificity was high. When REZ contact and nerve atrophy coexisted, both specificity and positive predictive value rose to 100%. Meta-analysis showed that REZ NVC was detected in 76% of symptomatic and 17% of asymptomatic nerves (P<.0001), whereas anatomical changes were detected in 52% of symptomatic and 9% of asymptomatic nerves (P<.0001). In conclusion, trigeminal REZ NVC, as detected by MRI, is highly likely to be symptomatic when it is associated with anatomical nerve changes.
Myastenia-Inflammatory Myopathy (MG-IM) association has been described in less than 50 cases, as isolated reports or in few case series. In most cases, MG and IM onset occur simultaneously even if ...the overlapping clinical manifestations could lead to delay the diagnosis in the early stage of disease. In these cases, thymic pathology is present in more than 50% of cases. Pathological findings can be consistent of polymyositis (63%), dermatomyositis (25%) or granulomatosis (12%). Accurate clinical manifestations and severity of IM in MG, including muscle specific antibodies (MSA) and muscle MRI, have not been systematically investigated and focal or mild subclinical myositis have not been reported.
We observed that focal myositis or asymptomatic CK elevation can also occur in MG. In this review we have also retrospectively re-analyzed the clinical, serological, pathological and muscle imaging data from 13 patients with MG- IM from our cohort of 441 MG patients (2,9%). Clinical onset occurred simultaneously in 10/13 patients, whereas in 2 patients the IM appeared later in MG disease course (range 10–14 years) and conversely in 1 patient MG symptoms occurred later in IM disease course (4 years). Median age at disease onset was 51 year (range 24–73 years) regardless of clinical onset (MG or IM). Median clinical follow-up was 88 months (range 31–237 months). IM was suspected by CK elevation in all patients (ranging 800–3000 UI/L at first detection) and non-fatigable muscle weakness unresponsive to acetylcholinesterase inhibitors. All the patients presented mild to moderate MG symptoms. Three main categories of muscle involvement, sometimes overlapping, were recognizable: distal, proximal and subclinical myositits, leading to three main clinical groups (A,B,C) and two overlapping subgroups (A/B and B/C). Thymus pathology was present in 10/13 patients. Anti-AChR was detected in al all patients associated with anti-Titin and -RyR1 in those patients with thymoma. No MSA, nor MAA antibodies were detected. Muscle biopsy confirmed IM in all patients. In conclusion we redefined the clinical spectrum of muscle involvement in MG-IM association, which represent a continuum among 3 main clinical groups: distal, proximal and subclinical muscle involvement. Minimal muscle involvement and focal myositis could be underestimated among myasthenic patients and early aggressive immunotherapy could be required in focal group.
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•Inflammatory myopathy occurs in less than 3% of myasthenic patients.•All myasthenia-myositis patients have AChR antibodies and most of them has thymoma.•Three main clinical groups of muscle involvement: distal, proximal and subclinical.•Distal and subclinical involvement could be underestimated.•Distal myositis has poor clinical outcome and could require early aggressive therapy.
Cardiac conduction and/or rhythm abnormalities (CCRA) are the most frequent and life-threatening complications in DM1. In order to determine prevalence, incidence, characteristics, age of onset and ...predictors of CCRA, CCRA progression and sudden cardiac death (SCD) in DM1, we collected ECG/24hECG-Holter data from a yearly updated 34-year database of a cohort of 103 DM1 patients without cardiac abnormalities at baseline, followed for at least 1 year. Fifty-five patients developed CCRA 39 developed conduction abnormalities (CCA) and 16 rhythm abnormalities (CRA), which progressed in 22. Nine had SCD. Risk and incidence of CCRA amounted to 53.4 and 6.83% person-years (CCA: 37.9 and 4.8%; CRA 15.5 and 2%), respectively; risk and incidence of SCD amounted to 8.74 and 0.67% person-years, respectively. CTG expansion represented a predictor of CCRA incidence (HR 1.10,
p
= 0.04), CCRA progression (HR 1.28,
p
= 0.001) and SCD (HR 1.39,
p
= 0.002). MIRS progression during follow-up was associated with CCRA prevalence (OR 5.82,
p
= 0.004); older age and larger CTG expansion to SCD prevalence (OR 2.67,
p
= 0.012; OR 1.54,
p
= 0.005). Age of CCRA onset and CCRA progression was significantly lower in patients with larger CTG expansion and in those with MIRS progression. Age when SCD occurred was significantly lower in patients with larger CTG expansion. Amongst recorded cardiac abnormalities, both atrial flutter (OR 8.70;
p
= 0.031) and paroxysmal supraventricular tachycardia (OR 8.67;
p
= 0.040) were associated with SCD. Although all DM1patients may develop cardiac abnormalities at any time in their life, patients older than 30 years with larger CTG expansion and MIRS progression in particular should be carefully monitored via periodical ECG.
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