scholarly journals Mitochondrial myopathy and myoclonic epilepsy

1990 ◽  
Vol 48 (1) ◽  
pp. 32-43 ◽  
Author(s):  
Walter O. Arruda ◽  
Luiz F. B. Torres ◽  
Anne lombes ◽  
Salvatore Dimauro ◽  
Belkiss A. Cardoso ◽  
...  
Keyword(s):  
Mitochondrial Myopathy ◽  
Biochemical Analysis ◽  
Sensory Neuropathy ◽  
Myoclonic Epilepsy ◽  
Temporal Region ◽  
Mitochondrial Encephalomyopathies ◽  
Ragged Red Fibers ◽  
Ischemic Infarct ◽  
Abnormal Mitochondria ◽  
The Right

The authors describe a family (mother, son and two daughters) with mitochondrial myopathy. The mother was asymptomatic. Two daughters had lactic acidosis and myoclonic epilepsy, mild dementia, ataxia, weakness and sensory neuropathy. The son suffered one acute hemiplegic episode due to an ischemic infarct in the right temporal region. All the patients studied had hypertension. EEG disclosed photomyoclonic response in the proband patient. Muscle biopsy disclosed ragged-red fibers and abnormal mitochondria by electron microscopy. Biochemical analysis showed a defect of cytochrome C oxidase in mitochondria isolated from skeletal muscle. Several clinical and genetic aspects of the mitochondrial encephalomyopathies are discussed.

Ganglionopathies Associated with MERRF Syndrome: An Original Report

2020 ◽  
Vol 7 (4) ◽  
pp. 419-423
Author(s):  
Maud Michaud ◽  
Tanya Stojkovic ◽  
Thierry Maisonobe ◽  
Anthony Behin ◽  
Benoit Rucheton ◽  
...  
Keyword(s):  
Nerve Conduction ◽  
Mitochondrial Diseases ◽  
Sensory Neuropathy ◽  
Nerve Conduction Studies ◽  
Myoclonic Epilepsy ◽  
Sensory Abnormalities ◽  
Ragged Red Fibers ◽  
Original Report ◽  
Merrf Syndrome

Neuropathies in Myoclonic Epilepsy with Ragged Red Fibers (MERRF) syndrome are frequent but ganglionopathies have never been reported. We retrospectively identified 24 patients with MERRF mutations in the neuromuscular center Nord/Est/Ile de France (Pitié-Salpêtrière, Paris, France). Seventeen nerve conduction studies (NCS) were available. Five patients had MERRF syndrome and ganglionopathy, a pure sensory neuropathy. All of them displayed ataxia and mild clinical sensory abnormalities. Ganglionopathies have been reported in mitochondrial diseases but never in MERRF syndrome. We suggest that patients presenting with ganglionopathy, especially if associated with myopathy, lipomatosis or epilepsy, should be screened for MERRF mutations.

Ultrastructural Change in Muscle Biopsy From a Case of Progressive Ophthalmoplegia

1976 ◽  
Vol 34 ◽  
pp. 240-241
Author(s):  
R. F. Dodson ◽  
B. M. Patten ◽  
L. W-F. Chu
Keyword(s):  
Muscle Biopsy ◽  
Mitochondrial Myopathy ◽  
Ultrastructural Change ◽  
Progressive External Ophthalmoplegia ◽  
Biceps Muscle ◽  
Open Biopsy ◽  
Giant Mitochondria ◽  
Ragged Red Fibers ◽  
Abnormal Mitochondria ◽  
Muscle Biopsies

Progressive external ophthalmoplegia is a disease which is classifiable as a “mitochondrial myopathy” (1). Mitochondrial changes have been reported as giant mitochondria with swirls of cristae, giant mitochondria with paracrystalline structures, and in extreme instances, abnormal mitochondria were reported to be replaced by dense rectangular inclusions and occasionally showed complete transition to crystalline structures (2). Presently we are reporting ultra structural findings from muscle biopsies obtained from a 51 year old man who had been clinically and histochemically diagnosed as having chronic external ophthalmoplegia. Histochemical findings indicate the presence of abnormal mitochondria as a component of the “ragged-red fibers” (3).Specimens from open biopsy of biceps muscle were dissected in a 1 cm long muscle clamp and immediately placed in a 3% glutaraldehyde in 0.1M phosphate buffered fixative.

scholarly journals LGG-05. MOLECULAR GUIDED THERAPY FOR A PEDIATRIC LOW GRADE GLIOMA: A CASE REPORT

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii367-iii367
Author(s):  
Jayne VonBergen ◽  
Beth Armstrong ◽  
Morgan Schmitt
Keyword(s):  
Targeted Therapy ◽  
Standard Treatment ◽  
Head Tilt ◽  
Study Patient ◽  
Low Grade ◽  
Temporal Region ◽  
Low Grade Gliomas ◽  
Leptomeningeal Involvement ◽  
The Right ◽  
Guided Therapy

Abstract Low grade gliomas are the most common type of central nervous system tumors among children. Despite the fact that they are not typically life threatening, low grade gliomas remain a significant clinical challenge. Case Study: Patient is a 4-year-old male who presented at 20 months of age with several weeks of ataxia, emesis, and head tilt. Imaging revealed a right temporal lobe lesion; he was subsequently taken to surgery, where a gross total resection was achieved. Imaging 9 months post resection revealed recurrent disease within the right temporal region with leptomeningeal involvement. Four months later imaging revealed progression of multifocal disease and new growth within the sella. At this time the patient started standard treatment, Carboplatin and Vincristine, per CCG 9952A. Persistent slow progression was observed despite receiving standard therapy. The patient developed a grade 3 reaction to carboplatin, worsening with each subsequent dose. At this time, he was referred to our Precision Genomics Neuro Oncology program for tumor molecular characterization. Somatic tumor testing revealed an ETV6-NTRK3 fusion, at which time standard treatment was stopped, and patient began targeted therapy, Larotrectinib. Imaging was preformed 2 months post start of targeted therapy and revealed interval decrease in size of previously enhancing nodular lesions; findings consistent with treatment response. Disease burden continues to decrease with therapy. This case illustrates a clear benefit of using molecular guided therapy in low grade gliomas.

scholarly journals Atypical Growth Pattern of an Intraparenchymal Meningioma

2016 ◽  
Vol 2016 ◽  
pp. 1-5
Author(s):  
Zhen Zeng ◽  
Tijiang Zhang ◽  
Yihua Zhou ◽  
Xiaoxi Chen
Keyword(s):  
Growth Pattern ◽  
Pineal Region ◽  
Pathological Examination ◽  
Intracranial Meningioma ◽  
Temporal Region ◽  
Right Cerebral Hemisphere ◽  
Dural Attachment ◽  
The Right ◽  
Chinese Male ◽  
Irregular Mass

Meningiomas are the most common primary nonneuroglial extra-axial neoplasms, which commonly present as spherical or oval masses with a dural attachment. Meningiomas without dural attachment are rare and, according to their locations, are classified into 5 varieties, including intraventricular, deep Sylvain fissure, pineal region, intraparenchymal, or subcortical meningiomas. To the best of our knowledge, intraparenchymal meningioma with cerebriform pattern has never been reported. In this paper, we report a 34-year-old Chinese male patient who presented with paroxysmal headaches and progressive loss of vision for 10 months and blindness for 2 weeks. A thorough physical examination revealed loss of bilateral direct and indirect light reflex. No other relevant medical history and neurologic deficits were noted. Computed tomography and magnetic resonance imaging scans showed an irregular mass with a unique cerebriform pattern and extensive peritumoral edema in the parietal-occipital-temporal region of the right cerebral hemisphere. The initial diagnosis was lymphoma. Intraoperatively, the tumor was completely buried in a sulcus in the parietal-occipital-temporal region without connecting to the dura. The histological diagnosis was intracranial meningioma based on pathological examination. Therefore, when an unusual cerebriform growth pattern of a tumor is encountered, an intraparenchymal meningioma should be considered as a differential diagnosis.

scholarly journals Estimation of activity of administered 18F-fluorodeoxyglucose by measurement of the dose equivalent rate on the right temporal region of the head

2016 ◽  
Vol 3 (1) ◽  
Author(s):  
Kenta Sakaguchi ◽  
Makoto Hosono ◽  
Tomomi Imamura ◽  
Naomi Takahara ◽  
Misa Hayashi ◽  
...  
Keyword(s):  
Temporal Region ◽  
Dose Equivalent ◽  
18F Fluorodeoxyglucose ◽  
Equivalent Rate ◽  
The Right
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