Clinical Spectrum of Biopsy Proven Mitochondrial Myopathy.

Objectives: Clinical spectrum of mitochondrial myopathy extends beyond chronic progressive external ophthalmoplegia (CPEO). While information on encephalomyopathies is abundant, clinical data on predominant myopathic presentation of mitochondrial disorders are lacking. Materials and Methods: Clinical, electrophysiological, biochemical, and follow-up data of patients with predominant myopathic presentation and muscle biopsy confirmed primary mitochondrial myopathy was obtained. We excluded known syndromes of mitochondrial cytopathies and encephalomyopathies. Results: Among 16 patients, 7 had CPEO, 4 had CPEO with limb-girdle muscle weakness (LGMW), and 5 had isolated LGMW. Systemic features included seizures with photosensitivity (n = 3), diabetes (n = 1), cardiomyopathy (n = 1), and sensorineural hearing loss (n = 1) and were more common in isolated LGMW. Elevated serum creatine kinase (CK) and lactate levels and electromyography (EMG) myopathic potentials were more frequent with LGMW. During follow-up, LGMW had more severe progression of weakness. Conclusion: We identified three subsets of mitochondrial myopathy with distinct clinical features and evolutionary patterns. Isolated LGMW was seen in 30% of patients and would represent severe end of the spectrum.

A real world multi center study on efficacy and safety of natalizumab in Indian patients with multiple sclerosis.

BACKGROUND: Natalizumab (NTZ) is increasingly being used in Indian multiple sclerosis (MS) patients. There are no reports on its safety and efficacy, especially with respect to the occurrence of progressive multifocal leukoencephalopathy (PML). OBJECTIVES: To describe the patient characteristics, treatment outcomes, and adverse events, especially the occurrence of PML in NTZ-treated patients. METHODS: A multicentre ambispective study was conducted across 18 centres, from Jan 2012 to Dec 2021. Patients at and above the age of 18 years treated with NTZ were included. Descriptive and comparative statistics were applied to analyze data. RESULTS: During the study period of 9 years, 116 patients were treated with NTZ. Mean age of the cohort was 35.6 ± 9.7 years; 83/116 (71.6%) were females. Relapse rate for the entire cohort in the year before NTZ was 3.1 ± 1.51 while one year after was 0.20±0.57 (p = 0.001; CI 2.45 -3.35). EDSS of the entire cohort in the year before NTZ was 4.5 ± 1.94 and one year after was 3.8 ± 2.7 (p = 0.013; CI 0.16-1.36). At last follow up (38.3 ± 22.78 months) there were no cases of PML identified. CONCLUSIONS: Natalizumab is highly effective and safe in Indian MS patients, with no cases of PML identified at last follow up.

Myoneuropathic presentation of limb girdle muscular dystrophy R8 with a novel TRIM32 mutation.

TRIM 32-related Limb Girdle Muscular Dystrophy (LGMD R8/2H) is a rare genetic muscle disease reported in fewer than 100 patients worldwide. Here, we report a male patient with progressive proximo-distal lower limb weakness with onset in the third decade who had mixed myopathic and neurogenic pattern in electrophysiology and muscle biopsy. Clinical exome sequencing revealed a homozygous pathogenic single base pair insertion in exon 2 of the TRIM32 gene confirming the diagnosis of LGMD R8. This is a novel frameshift mutation and one of the very few cases of LGMD R8 reported from India.

Determinants of Suboptimal Outcome Following Thymectomy in Myasthenia Gravis.

BACKGROUND: Response to thymectomy in myasthenia gravis (MG) is influenced by various patient-, disease-, and therapy-related factors. METHODS: Retrospective analysis of 128 patients with MG who underwent maximal thymectomy over 15 years was done to identify the determinants of suboptimal clinical outcome. RESULTS: Among the 128 patients, 62 (48.4%) were females with a mean age of 38.97 (12.29) years. Thymomatous MG occurred in 66 (51.6%). Overall improvement from preoperative status was noted in 88 (68.8%) patients after mean follow-up of 51.68 (33.21) months. The presence of thymoma was the major predictor of suboptimal clinical outcome (P = 0.001), whereas age, gender, preoperative disease severity, and seropositive status did not attain significance. Patients with better outcome had received higher steroid dose preoperatively (P = 0.035). CONCLUSIONS: Suboptimal response after thymectomy occurred in one-third of MG patients, more commonly with thymomatous MG. Relationship of preoperative steroid therapy to remission merits evaluation.

Relapsing lumbosacral myeloradiculitis: An unusual presentation of MOG antibody disease.

Myelin oligodendrocyte glycoprotein antibody (MOG-Ab) seropositivity is being increasingly reported in diverse demyelinating syndromes with monophasic and relapsing presentations. Conus myelitis is described as a typical feature of MOG-Ab seropositivity. However, the association with lumbosacral radiculitis in this disease is not well-recognized. Here, we report a patient with relapsing MOG-Ab disease who presented clinically and radiologically with a relapsing lumbosacral myeloradiculopathy. This presentation raises the diagnostic possibilities of chronic infections, sarcoidosis, and neoplastic infiltration. This case illustrates the need to consider MOG-Ab disease as one of the differential diagnosis for a non-compressive lumbosacral myeloradiculopathy.

An unusual presentation of scleromyxedema as inflammatory myopathy.

Scleromyxedema is a rare cutaneous mucinosis with frequent extracutaneous manifestations. Myopathy in scleromyxedema is a poorly recognized syndrome among neurologists and can mimic idiopathic and connective tissue disease-associated inflammatory myopathy. Diagnosis is suspected by the characterization of the skin lesions and clinched by skin and muscle biopsies. Here, we report a patient with scleromyxedema and myopathy with the characteristic histopathological feature of mucin deposition in skin biopsy. Her muscle biopsy showed a picture consistent with scleromyxedema myopathy with vacuolar and inflammatory changes. The association with paraproteinemia, propensity to life-threatening central nervous system disease and good response to intravenous immunoglobulin necessitate the accurate diagnosis of this condition.

Tumefactive demyelinating lesions: a clinicopathological correlative study.

Tumefactive demyelinating (TDL) lesions are focal zones of demyelination in the central nervous system and they often mimic the neuroimaging features of an intraxial neoplasm. In this report we describe the clinical, neuroimaging and neuropathological features of six cases of TDL. Only in two patients the neuroimaging features in MRI (magnetic resonance imaging) scans were suggestive of TDL while in the other four cases a diagnosis of glioma was suggested. In order to establish a confirmatory diagnosis neuronavigation/stereotactic biopsy was undertaken and the diagnosis of TDL was established in all six cases at histopathology. Two out of six patients did not respond to the conventional corticosteroid therapy and they were treated with plasma exchange. It is being concluded that neuronavigation biopsy, though provide only a small amount of tissue, and is extremely useful in making the diagnosis of TDL.