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Objective:To summarize the clinical, pathological and molecular biological characteristics of one patient of paranodal disease with anti-contactin-associated protein 1 (Caspr 1) antibodies.Methods:The patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) admitted to Qilu Hospital of Shandong University from August 2018 to December 2020 were retrospectively studied. The clinical data of one acute onset CIDP patient with anti-Caspr 1 antibodies were collected and retrospectively analyzed with literature review. Anti-nodal/paranodal IgG and their subclasses in serum and cerebrospinal fluid (CSF) were investigated by immuno?uorescence assays. Pathological characteristics were explored by sural nerve biopsy further.Results:The patient presented with tremor, ataxia and neuropathological pain besides symmetrical limb muscle weakness and hypaesthesia. The CSF protein was elevated significantly. The brachial plexus and lumbosacral plexus magnetic resonance imaging showed enlarged nerve roots. The patient was responsive well to intravenous immunoglobulin and steroids in acute phase, while the symptoms improved significantly with rituximab in chronic phase. Autoantibodies against Caspr 1 were detectable in serum and CSF, with IgG4 predominant. Sural nerve biopsy revealed segmental demyelination and myelin digestion chamber. Dispersed lamellae of myelin sheath and axonal degeneration were confirmed by electron microscopy.Conclusions:Tremor, ataxia, neuropathic pain, significantly elevated CSF protein and enlarged nerve roots are suggestive of paranodal diseases with anti-Caspr 1 antibodies. For patients with suspected Guillain-Barre syndrome/CIDP and above phenotypes, nodal/paranodal antibodies and antibody subtypes should be detected to optimize the treatment.
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Objective To summarize the clinical , pathological and genetic characteristics of three patients with caveolin-3 associated myopathy and review the literatures .Methods The clinical data of three patients with caveolin-3 associated myopathy were investigated .With informed consent , we performed muscle biopsy and genetic analysis of CAV 3 and PTRF genes.Results All the three patients presented with percussion/pressure-induced rapid contraction , percussion-induced muscle mounding and mechanically induced muscle rippling.Besides, case 1 had weakness and atrophy of hand muscles .Case 2, who manifested with muscle hyperexcitability at onset , developed weakness and atrophy of distal part of lower limbs.Case 3 showed normal muscle strength and tone .All of them had myalgia or tenderness .Muscle biopsy revealed mild myogenic changes in two patients and a muscular dystrophic pattern in one . Immunohistochemical staining of caveolin-3 revealed an even deficiency in case 1 and a mosaic deficiency in cases 2 and 3.Gene analysis revealed a missense mutation ( c.80G>A, p.R27Q) in CAV3 gene of case 1. No mutations were identified in cases 2 and 3.Conclusions There is phenotypic variability in patients with caveolin-associated myopathy , including limb-girdle syndrome , rippling muscle disease , distal myopathy , muscle hypertrophy , idiopathic hyperCKemia and cardiomyopathy .Muscle biopsy and caveolin-3 staining should be performed for the above patients with muscle rippling .
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Objective To investigate the pathological features of blood vessel inflammation in facioscapulohumeral muscular dystrophy ( FSHD ) and the role of vasculitis on the pathogenesis of FSHD. Methods The clinical manifestations and myopathological features of 26 FSHD patients were retrospectively analyzed and summarized. All of the patients were divided into 2 groups; inflammatory infiltration group and non-inflammatory infiltration group. The latter was further divided into 3 subgroups;endomysial inflammation subgroup, perivasculitis subgroup and transmural vasculitis subgroup.Immunohistochemical staining were carried out in inflammatory infiltration group with anti-CD3, anti-CD4,anti-CD8,anti-CD20 and anti-SMA antibody. The control group was composed of 10 dermatomyositis ( DM)cases and 10 polymyositis ( PM) cases. Results The age of onset was (25. 2 ± 12. 6) years old and the average course was (7. 8 ±7. 3) years. The sex ratio of male to female was 1.6: 1. Five of them had family history. The main clinical features were progressive weakness and atrophy of facial, shoulder girdles and proximal upper limbs muscles. The lower distal limbs and (or) lower distal limbs and pelvic girdle muscles were involved in 18 cases. The main pathological features were shown as followed. Seventeen of them had focal inflammatory cell infiltration, including endomysial inflammation (4/17) , perivasculitis (7/17) , and transmural vasculitis (6/17). Immunohistochemical staining confirmed the major types of inflammatory cells were CD4* T lymphocytes and CD20B lymphocytes, which was familiar with DM. While in PM, CD8+ T lymphocytes were dominant The proportionality of residual muscle fibers obviously decreased in inflammatory infiltration group ( 48. 0% ± 23. 6% ) than non-inflammatory infiltration group ( 94. 3% ±3. 1% , T = 198. 000, P = 0. 000). As to CK levels, there were no significant deviation. Conclusions Obvious inflammatory cell infiltration can be seen in FSHD, the locations of inflammatory cells are endomyosium inflammation, perivasculitis and transmural vasculitis. Transmural vasculitis indicates vascular pathological factor may have something to do with pathogenesis of FSHD.