Nerve biopsy findings contribute to diagnosis of multiple mononeuropathy: 78% of findings support clinical diagnosis

Multiple mononeuropathy is an unusual form of peripheral neuropathy involving two or more nerve trunks. It is a syndrome with many different causes. We reviewed the clinical, electrophysi- ological and nerve biopsy findings of 14 patients who suffered from multiple mononeuropathy in our clinic between January 2009 and June 2013. Patients were diagnosed with vasculitic neurop- athy （n = 6）, perineuritis （n = 2）, chronic inflammatory demyelinating polyradiculoneuropathy （n = 2） or Lewis-Sumner syndrome （n = 1） on the basis of clinical features, laboratory data, elec- trophysiological investigations and nerve biopsies. Two patients who were clinically diagnosed with vasculitic neuropathy and one patient who was clinically diagnosed with chronic inflamma- tory demyelinating polyradiculoneuropathy were not confirmed by nerve biopsy. Nerve biopsies confirmed clinical diagnosis in 78.6% of the patients （11/14）. Nerve biopsy pathological diagno- sis is crucial to the etiological diagnosis of multiple mononeuropathy.

Collagen VI-related myopathy with scoliosis alone: A case report and literature review

BACKGROUND Scoliosis is a complex three-dimensional deformity of spine and one of the common complications of collagen VI-related myopathy,caused by mutations in collagen type VI alpha 1 chain(COL6A1),COL6A2,and COL6A3 genes.The typical clinical presentations of collagen VI-related myopathy include weakness,hypotonia,laxity of distal joints,contractures of proximal joints,and skeletal deformities.CASE SUMMARY A 28-year-old female presented with scoliosis for 28 years without weakness,hypotonia,laxity of distal joints,and contracture of proximal joints.Computed tomography and magnetic resonance imaging revealed hemivertebra,butterfly vertebra,and the missing vertebral space.Patients underwent orthopedic surgery and paravertebral muscle biopsy.The Cobb angle dropped from 103.4°to 52.9°.However,the muscle biopsy showed neurogenic muscular atrophy with myogenic lesions,suggesting congenital muscular dystrophy.Gene analysis indicated that mutations in COL6A1(c.1612-10G>A)and COL6A2(c.115+10G>T,c.2749G>A).Immunohistochemistry staining for collagen VI displayed shallow and discontinuous.Eventually,the patient was diagnosed as collagen VI-related myopathy.CONCLUSION This newly found subtype of collagen VI-related myopathy has no typical manifestations;however,it is characterized by severe scoliosis and congenital vertebral deformity.

Coexistent Charcot-Marie-Tooth type 1A and type 2 diabetes mellitus neuropathies in a Chinese family

Charcot-Marie-Tooth disease type 1A（CMT1A） is caused by duplication of the peripheral myelin protein 22（PMP22） gene on chromosome 17. It is the most common inherited demyelinating neuropathy. Type 2 diabetes mellitus is a common metabolic disorder that frequently causes predominantly sensory neuropathy. In this study, we report the occurrence of CMT1 A in a Chinese family affected by type 2 diabetes mellitus. In this family, seven individuals had duplication of the PMP22 gene, although only four had clinical features of polyneuropathy. All CMT1 A patients with a clinical phenotype also presented with type 2 diabetes mellitus. The other three individuals had no signs of CMT1 A or type 2 diabetes mellitus. We believe that there may be a genetic link between these two diseases.

A novel MYH7 mutation resulting in Laing distal myopathy in a Chinese family

To the Editor:Distal myopathy is a heterogenetic disorder characterized by early distal lower limb involvement,which has been linked to 18 disease-causing genes.The gene responsible for Laing distal myopathy(LDM,also called distal myopathy 1;OMIM 160500)was determined to be the myosin heavy chain 7 gene(MYH7)located on chromosome 14q11.[1] MYH7 encodes the myosin heavy chain beta isoform(MyHC-β)and is expressed predominantly in the cardiac ventricle and in type 1 skeletal muscle fibers.

A case of de novo dynamin 2(DNM2)-related centronuclear myopathy with electrical but not clinical myotonia

To the Editor:A 39-year-old man presented with progressive limb atrophy and weakness.The patient had generalized muscular hypotonia at birth;he could not run well in elementary school.Neurologic examination revealed atrophy of the facial muscles and limited left eye adduction.In the upper limbs,the patients showed proximal muscle atrophy and weakness[Figure 1A],while in the lower extremities,the weakness was more prominent distally than proximally.Neither spontaneous or percussion myotonia nor muscle hypertrophy was observed.