CONGENITAL NEUROMUSCULAR DISEASE WITH UNIFORM TYPE-1 FIBERS SIMULTANEOUSLY PRESENTING GLUTEAL MUSCLES CONTRACTURE AND BRAIN ATROPHY: A CASE REPORT

2010 ◽  
Vol 13 (04) ◽  
pp. 203-207
Author(s):  
Xihua Li ◽  
Jing Zhang ◽  
Xuee Cui ◽  
Lei Zhao ◽  
Pinquan Shen ◽  
...  
Keyword(s):  
Case Report ◽  
Brain Atrophy ◽  
Neuromuscular Disease ◽  
Brain Mri ◽  
Gluteal Muscle ◽  
Muscle Contracture ◽  
First Case ◽  
Gluteal Muscle Contracture ◽  
Congenital Neuromuscular Disease

We report the clinical presentation and pathological findings of congenital neuromuscular disease with uniform type-1 fibers presenting on an 11-year-old girl with the clinical diagnosis of unilateral (right-side) gluteal contracture and brain atrophy. CT image showed that right gluteus maximus muscle was atrophic. Brain MRI showed mild bilateral ventricular dilation and widening of the lateral fissure. A biopsy of quadriceps muscle revealed only uniformity of type-1 fibers with the absence of cores, and mild decrease of activity on oxidative enzyme staining. Although the exact cause of congenital gluteal muscle contracture is still not clear, we presume that the congenital gluteal muscle contracture may be caused by the neuromuscular disease with uniform type-1 fibers and this is the first case report of neuromuscular disease with uniform type-1 fibers complicated with brain atrophy in China.

Brain atrophy in congenital neuromuscular disease with uniform type 1 fibers

1997 ◽  
Vol 16 (1) ◽  
pp. 56-58 ◽  
Author(s):  
Eun-Young Jung ◽  
Haruo Hattori ◽  
Yoshihisa Higuchi ◽  
Izuru Mitsuyoshi ◽  
Toyoko Kanda
Keyword(s):  
Brain Atrophy ◽  
Neuromuscular Disease ◽  
Congenital Neuromuscular Disease

New Minimally Invasive Option for the Treatment of Gluteal Muscle Contracture

Orthopedics ◽  
2012 ◽  
Vol 35 (12) ◽  
pp. e1692-e1698 ◽  
Author(s):  
Bin Ye ◽  
Panyu Zhou ◽  
Yan Xia ◽  
Youyan Chen ◽  
Jun Yu ◽  
...  
Keyword(s):  
Minimally Invasive ◽  
Gluteal Muscle ◽  
Muscle Contracture ◽  
Gluteal Muscle Contracture

scholarly journals A Case of Congenital Neuromuscular Disease with Uniform Type 1 Fiber

2004 ◽  
Vol 45 (1) ◽  
pp. 150 ◽  
Author(s):  
Sang Jun Na ◽  
Seong Woong Kang ◽  
Kee Oog Lee ◽  
Kyung Yul Lee ◽  
Tai Seung Kim ◽  
...  
Keyword(s):  
Neuromuscular Disease ◽  
Congenital Neuromuscular Disease

scholarly journals Roles of TGF-β/Smad signaling pathway in pathogenesis and development of gluteal muscle contracture

2014 ◽  
Vol 56 (1) ◽  
pp. 9-17 ◽  
Author(s):  
Xintao Zhang ◽  
Yukun Ma ◽  
Tian You ◽  
Xiaopeng Tian ◽  
Honglei Zhang ◽  
...  
Keyword(s):  
Signaling Pathway ◽  
Gluteal Muscle ◽  
Muscle Contracture ◽  
Smad Signaling ◽  
Gluteal Muscle Contracture ◽  
Smad Signaling Pathway

Posterior Reversible Encephalopathy Syndrome Following Diabetic Ketoacidosis: A Case Report

2021 ◽  
Author(s):  
Meng-Ko Tsai ◽  
Chao-Hung Lai ◽  
Tsung-Ju Chuang
Keyword(s):  
Case Report ◽  
Diabetic Ketoacidosis ◽  
Blood Sugar ◽  
Posterior Reversible Encephalopathy Syndrome ◽  
Brain Mri ◽  
Posterior Reversible Encephalopathy ◽  
First Case ◽  
Aged Woman ◽  
Adequate Hydration ◽  
Reversible Encephalopathy

Abstract Background Posterior reversible encephalopathy syndrome (PRES) following the development of diabetic ketoacidosis (DKA) is rare and usually occurs in children. This is the first case of DKA following PRES that we know of that occurred in an adult.Case report We encountered a middle-aged woman with a one-day history of nausea and vomiting who presented with DKA and seizure, along with hallucinations. On presentation, we performed physical examinations and blood biochemistry tests to ascertain the cause of these symptoms. We also performed magnetic resonance imaging (MRI) of her brain, which showed typical brain edema in the bilateral occipital and parietal regions, which indicated PRES. We treated the patient’s symptoms by administering adequate hydration and administering an infusion of insulin of 30 U after breakfast and 15 U after dinner to bring her blood sugar levels under control.The brain MRI we performed showed hyperintensity of the bilateral occipital and parietal cortexes on a fluid-attenuated inversion recovery T2 weighted image, after which the patient was diagnosed with PRES. The patient was discharged thirteen days after admission with stable blood sugar and blood pressure levels. Conclusions Physicians should keep this condition in mind as a possible complication of DKA and treat it quickly and efficiently in order to attain a good patient outcome.This is the first report of DKA-induced PRES in an adult, and physicians should keep this condition in mind as a possible complication of DKA, which is treatable and may have a good prognosis.

Human T-Lymphotropic Virus Type-1-Associated Myelopathy/Tropical Spastic Paraparesis: The First Case Report in Southeast Asia

2017 ◽  
Vol 33 (7) ◽  
pp. 629-631
Author(s):  
Sekh Thanprasertsuk ◽  
Suwapan Pleumkanitkul ◽  
Supaporn Wacharapluesadee ◽  
Teerada Ponpinit ◽  
Thiravat Hemachudha ◽  
...  
Keyword(s):  
Case Report ◽  
Southeast Asia ◽  
Virus Type ◽  
Spastic Paraparesis ◽  
Tropical Spastic Paraparesis ◽  
T Lymphotropic Virus ◽  
First Case

Safe Use of Carfilzomib in a Patient with Multiple Myeloma and Intermittent Type 1 Brugada ECG Pattern: A Case Report

2019 ◽  
Vol 143 (5) ◽  
pp. 481-485
Author(s):  
Eleonora Ghisoni ◽  
Laura Marandino ◽  
Pasquale Lombardi ◽  
Alessandro Bonzano ◽  
Paolo Becco ◽  
...  
Keyword(s):  
Risk Factors ◽  
Multiple Myeloma ◽  
Cardiac Arrest ◽  
Case Report ◽  
Cardiovascular Risk ◽  
Potential Treatment ◽  
Newly Diagnosed ◽  
First Case ◽  
Trigger Event

Cardiovascular adverse events (CVAEs) are of considerable importance in patients with multiple myeloma (MM), given the significant prevalence of coexisting cardiovascular risk factors and the potential treatment-induced toxicity. Brugada syndrome is a rare cardiological disease responsible for arrhythmia and potentially fatal cardiac arrest. Brugada phenocopies (BrP) are clinical entities which show an identical ECG patterns, but prompt resolution after treatment of the trigger event. A 65-year-old female newly diagnosed MM patient treated with a carfilzomib-based chemotherapy developed a type 1 Brugada ECG pattern during a hospitalization course for sepsis. As fever and the septic event resolved, further ECGs showed no abnormalities and carfilzomib-based treatment could be resumed with no further CVAEs. Though fever-induced BrP is a universally known phenomenon, to our knowledge this is the first case of BrP in a patient with MM during active treatment with carfilzomib.

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