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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. [ABSTRACT FROM AUTHOR]

Atypical choroid plexus papilloma is classified as WHO (World Health Organization) Grade II subtype of choroid plexus tumor, and it has intermediate pathological features, prognosis, and clinical outcome rates between choroid plexus papilloma and choroid plexus carcinoma. These tumors are more common in children compared with adults and are usually located in the lateral ventricles. We present a case of an adult with atypical choroid plexus papilloma located in the infratentorial region. A 41-year-old woman underwent evaluation for headache and dull aching neck pain. Magnetic resonance imaging (MRI) of the brain revealed a well-defined intraventricular mass lesion in the fourth ventricle and foramen of Luschka. She underwent craniotomy and gross total excision of the lesion. Histopathological and immunohistochemical findings confirmed the diagnosis of atypical choroid plexus papilloma (WHO Grade II). We discuss the various treatment options for this condition and review the relevant literature. [ABSTRACT FROM AUTHOR]

Hepatoid adenocarcinoma (HAC) is a unique type of extrahepatic adenocarcinoma that histologically mimics the appearance of hepatocellular carcinoma (HCC). Hepatoid adenocarcinoma of the stomach has a poor prognosis with increased potential for liver metastasis. HCC and HAC share clinicopathological and immunohistochemical features. The diagnosis of metastatic hepatoid adenocarcinoma to the liver is challenging. It is often misdiagnosed as hepatocellular carcinoma. The diagnostic dilemma is more when the primary tumour is unknown and the first diagnosis is to be established on liver biopsy. Herein, we present the case of a 68-year-old male patient who presented with dysphagia and abdominal discomfort for a three-month duration. Imaging studies showed multiple hypodense lesions in both lobes of the liver. Serum AFP level was markedly elevated to a level of 83,000 ng/ml). A liver biopsy showed atypical polygonal cells in the trabecular pattern. The atypical cells were CK7 negative, CK 20 negative, Hep Par-1 positive and AFP positive. Features were suggestive of hepatocellular carcinoma. Endoscopy showed ulceroproliferative growth in the distal body and antrum of the stomach, a biopsy of which showed atypical cells of similar morphology. The cells were showing focal positivity for CK7, CK20, Hep Par-1 and AFP. On further evaluation, tumour cells in both locations showed positivity for SALL 4. Correlating clinical features, radiology, serum marker values and IHC profile, diagnosis of hepatoid adenocarcinoma of the stomach with liver metastasis was given. [ABSTRACT FROM AUTHOR]

Background: Central nervous system (CNS) vasculitis is an uncommon disease, which is a diagnostic and therapeutic challenge for physicians. Large and medium vessel vasculitis is relatively easy to diagnose by angiogram compared to small vessel vasculitis, where angiograms are often normal; imaging features described till date are sensitive but not specific.Purpose: Here, we describe distinct magnetic resonance (MR) imaging features of CNS small vessel vasculitis.Materials and Methods: Five histologically proven small vessel vasculitis cases were retrospectively reviewed from medical records between January 2008 to July 2012. Angiogram (magnetic resonance angiography in all and digital subtraction angiography in three patients) were normal, ruling out associated large and medium vessel vasculitis. The MR imaging findings were analyzed for T2/fluid-attenuated inversion recovery (FLAIR) hyperintensities and blooming on susceptibility weighted imaging (SWI).Results: Five patients (3 males) with a mean age of 34.2 years (range: 18 to 62 years) were included for analysis. Three patients with lymphocytic vasculitis had 43 discrete T2/FLAIR hyperintense lesions in brain parenchyma. All the brain lesions revealed central areas of SWI blooming in linear and/or lace-like pattern, surrounded by FLAIR hyperintensity. Corresponding T1-weighted contrast-enhanced images revealed subtle linear and lace-like enhancement. Coarse granular pattern of SWI blooming was seen in the patient with tuberculous vasculitis and no parenchymal abnormalities were seen in the patient with hypertrophic pachymeningitis.Conclusions: The linear SWI blooming along the course of small cerebral vessels and lace-like enhancement pattern in spin echo post-contrast T1-weighted sequences are suggestive MR imaging features for lymphocytic CNS small vessel vasculitis. [ABSTRACT FROM AUTHOR]

Thymic changes such as hyperplasia and thymoma are infrequent in MuSK-positive myasthenia gravis (MuSK-MG), unlike in AChR-positive myasthenia. Sir, Myasthenia gravis (MG) is a neuromuscular disease of autoimmune origin characterized by autoantibodies to various components of the neuromuscular junction. Routinely testing for titin in AChR-negative myasthenia patients may improve our understanding of the interaction between titin and non-AChR antibodies. [Extracted from the article]

Gangliogliomas are well differentiated, usually low grade, neuroepithelial tumors that comprise of neoplastic ganglion cells in combination with neoplastic glial cells. Occasionally, glial cells may show anaplastic features and are then labeled as anaplastic gangliogliomas. Most of the reported gangliogliomas are supratentorial tumors, predominantly in the temporal lobe. Brainstem location has been reported infrequently. As with cortically based gangliogliomas, though the primary treatment is resection, this is often not possible due to the eloquence of surrounding involved parenchyma. Here, we report a case of brainstem tumor in an 8-month-old child that was substantially resected and was histopathologically Grade 1 ganglioglioma. As per review of English literature, there has been no case of brainstem ganglioglioma reported in an infant (less than 1 year age). We discuss the surgical difficulties in the radical excision of such benign tumors and review literature on pediatric brainstem gangliogliomas. [ABSTRACT FROM AUTHOR]

Rosette forming glioneuronal tumor (RGNT) is a recently recognized and extremely rare glioneuronal tumor occurring in the fourth ventricle. It is crucial for the cytopathologist to be aware of this entity as it can be easily mistaken for more common neoplasms occurring at this site. We present here the cytology of such a rare case of RGNT that was misdiagnosed as ependymoma. The varying cytological features of this entity, as well as the common diagnostic diffi culties encountered in cytology, are highlighted in this report. [ABSTRACT FROM AUTHOR]

The article presents a case study of a 33-year-old male who suffered from fever and malaise of one month duration. It discusses results of his physical examination, cardiac examination and echocardiogram. This study reports a successful mechanical recanalization of middle cerebral artery (MCA) occlusion by vegetation using solitaire device with pathological demonstration of gram-positive cocci in the vegetation.