scholarly journals Achilles Tendon Xanthoma and Cholestanol Revealing Cerebrotendinous Xanthomatosis: A New Case Report

2021 ◽  
Vol 2021 ◽  
pp. 1-4
Author(s):  
Mohamed Ahmed Ghassem ◽  
Aziza Mounach ◽  
Julien H Djossou ◽  
Hamza Toufik ◽  
Najlae El Ouardi ◽  
...  
Keyword(s):  
Case Report ◽  
Achilles Tendon ◽  
Histological Study ◽  
Brain Mri ◽  
Cerebellar Atrophy ◽  
Cerebrotendinous Xanthomatosis ◽  
Posterior Aspect ◽  
Lipid Storage Disease ◽  
First Case ◽  
Tendon Xanthoma

Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disease rarely reported in Africa. Therefore, we report a Moroccan first case report of CTX. A 20-year-old woman was presented in our department for bilateral swelling of the posterior aspect of ankles and the anterior aspect knees with gait disturbances evolving since the age of 7. The patient was the first child of consanguineous marriage. She had bilateral cataracts and developmental delay. Laboratory findings revealed that the plasma cholestanol level was remarkably elevated, and plasma and urine bile alcohol levels were elevated. MRI of ankles showed a bilateral diffuse thickening of the Achilles tendon with hypointense in T1 and heterogeneous hypersignal in T2 with spots in hypersignal in T1 and T2. Brain MRI revealed bilateral and symmetrical T2 hypersignal of dentate nuclei, without white matter signal alterations or cerebral or cerebellar atrophy. A biopsy obtained of the Achilles swelling with a histological study showed an aspect of tendon xanthoma. Hence, the diagnosis of CTX was made. MRI, especially brain MRI, plays an important role in the diagnosis of CTX.

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.

scholarly journals Association of Posterior Reversible Encephalopathy Syndrome and Transient Apical Ballooning Syndrome (Takotsubo): First Case Report of a Man and Review of the Literature

2017 ◽  
Vol 9 (2) ◽  
pp. 173-178 ◽  
Author(s):  
Stephan Grimaldi ◽  
Emilie Doche ◽  
Caroline Rey ◽  
Nadia Laksiri ◽  
Salah Boussen ◽  
...  
Keyword(s):  
Case Report ◽  
Posterior Reversible Encephalopathy Syndrome ◽  
Brain Mri ◽  
Left Ventricular ◽  
Left Ventricular Ejection ◽  
Apical Ballooning Syndrome ◽  
Ventricular Ejection Fraction ◽  
Posterior Reversible Encephalopathy ◽  
First Case ◽  
Reversible Encephalopathy

Introduction: An association of posterior reversible encephalopathy syndrome (PRES) and takotsubo is rare. We present the first case of a male patient. Case Report: A 69-year-old man presented to the hospital in a persistent comatose state following a generalized tonic-clonic seizure with high blood pressure. The electrocardiogram revealed transient left bundle branch block. Troponin and BNP were elevated. Cardiac ultrasound showed large apical akinesia with altered left ventricular ejection fraction, and the left ventriculogram showed characteristic regional wall motion abnormalities involving the mid and apical segments. Brain MRI showed bilateral, cortical, and subcortical vasogenic edema predominant in the posterior right hemisphere. The lumbar puncture and cerebral angiography were normal. Paraclinical abnormalities were reversible within 2 weeks with a clinical recovery in 3 months, confirming the takotsubo and the PRES diagnoses. Discussion: Several theories hypothesize the underlying pathophysiology of takotsubo or PRES. Circulating catecholamines are up to 3 times higher in patients with takotsubo causing impaired microcirculation and apical hypokinesia. An association of both takotsubo and asthma crisis and PRES and asthma crisis underlines the role of catecholamines in the occurrence of these disorders. Conclusion: Early recognition of this rare association, in which heart and neurological damage may require rapid intensive care support, is needed.

Spine eburnation in a metastatic lung cancer patient treated with immunotherapy and radiotherapy. The first case report of bystander effect on bone

2021 ◽  
pp. 107815522110273
Author(s):  
Silvana Parisi ◽  
Ilenia Napoli ◽  
Sara Lillo ◽  
Alberto Cacciola ◽  
Gianluca Ferini ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Case Report ◽  
Brain Metastasis ◽  
Bystander Effect ◽  
Checkpoint Inhibitors ◽  
Primary Tumour ◽  
Brain Mri ◽  
First Case ◽  
Pet Ct ◽  
Single Brain Metastasis

Introduction Metastatic non-small cell lung cancer (NSCLC) is nowadays treated with a multimodal therapeutic approach including immunotherapy, targeted therapy and radiotherapy. Radiation therapy, in addition to immune checkpoint inhibitors, gives rise to a particular radiobiological effect known as “bystander effect” consisting of the radiation-induced damage in nearby unirradiated cells. Case report We report a case of a 79-year-old female patient with stage IV NSCLC treated with concomitant immuno-radiotherapy who showed a bystander effect on bone. Management and outcome: Primary tumour biopsy revealed an adenocarcinoma with a PDL1 expression >50%, while staging exams showed a right pulmonary lesion with a partial involvement of the contiguous rib and a single brain metastasis. The patient refused chemotherapy, so that Pembrolizumab 2 mg/Kg was administered every 3 weeks. After two administrations, the single brain metastasis was treated using stereotactic radiosurgery while the site of primitive lung cancer received an 8 Gy-single fraction 3 D-conformal radiotherapy. Three months after irradiation a chest CT showed a radiological remission of about 10% of the GTV and a partial eburnation of the vertebra located nearby the target volume. The CT images of a PET/CT at six months showed a complete vertebral eburnation. At the last follow-up, the patient was free of disease (brain MRI, spinal MRI and PET/CT). Discussion The present case alerts for unusual side effects provoked by bystander phenomenon in patients treated with a combination of immunotherapy and irradiation. Immune activation exacerbates the bystander effect causing normal tissues toxicities beyond what immunotherapies are causing by themselves.

scholarly journals A Case Report of Cerebral Venous Sinus Thrombosis in Palestine: The Importance of Rapid Diagnosis and Treatment of CVST

2019 ◽  
Vol 4 (6) ◽  
Keyword(s):  
Case Report ◽  
Sinus Thrombosis ◽  
Brain Mri ◽  
Transverse Sinus ◽  
Cerebral Venous Sinus Thrombosis ◽  
Venous Sinus ◽  
Successful Outcome ◽  
Venous Sinus Thrombosis ◽  
Brain Ct ◽  
First Case

Cerebral venous sinus thrombosis (CVST) is an often under-diagnosed, life-threatening condition. We report the first case of CVST in Palestine of a 39-year-old female who presented with a history of loss of consciousness preceded by severe vertigo and headache. Brain CT scan without contrast was done, in which no abnormality was detected. Further Brain MRI and MRV studies with contrast showed thrombosis of left transverse sinus with extension to left sigmoid sinus and left jugular vein. The patient was anticoagulated and admitted to the ICU for regular monitoring and frequent brain CT scans to rule out hemorrhagic transformation. The patient made a full recovery. Lab and molecular studies were carried out as an outpatient to investigate the etiology of this presentation. The aim of this case report is to demonstrate the importance of early detection and treatment of CVST for a successful outcome.

scholarly journals A Rare Case of Bilateral Achilles Tendon Xanthomas in a Teenager, Successfully Treated with Tendon Sparing Technique

2021 ◽  
Vol 2021 ◽  
pp. 1-7
Author(s):  
G. A. P. K. Appuhamy ◽  
B. M. Munasinghe ◽  
L. M. Soysa ◽  
D. Nelson ◽  
P. G. P. Ranmini ◽  
...  
Keyword(s):  
Achilles Tendon ◽  
Familial Hypercholesterolemia ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
District General Hospital ◽  
Subtotal Resection ◽  
Resonance Imaging ◽  
Posterior Aspect ◽  
Case Presentation ◽  
Tendon Xanthoma

Background. Xanthoma of the Achilles tendon, even though being benign, is a surgically challenging orthopaedic condition. Causality is believed to be due to a pathological error in the metabolism of low-density lipoprotein and their resultant accumulation, as foam cells within the tendon. Tendon xanthomas are often found to accompany heterozygous familial hypercholesterolemia. Case Presentation. A 19-year-old girl presented to our institution (a District General Hospital), with soft tissue lumps over posterior aspect of the ankle on both sides for several years. She had noticed a rapid increase in size in recent 3 months and sought medical advice. During investigation, she was diagnosed having bilateral Achilles tendon xanthomas clinically, confirmed by ultrasound scan and magnetic resonance imaging, and familial hypercholesterolemia concomitantly. The former was managed with intralesion subtotal resection where the histology further confirmed the diagnosis. The patient was commenced on statins and followed up while assessing the functional outcome and recurrences up to 2 years, with favourable results. Conclusion. Subtotal resection of Achilles tendon xanthoma (tendon sparingly) offers cosmetically and functionally acceptable outcomes, with faster recovery and no recurrences over 2 years.

Neglected Stiff Equinocavus Foot Deformity Treated with Cole Osteotomy, Combined with External Ilizarov Hinged Frame Fixation, Soft-Tissue Release, and Achilles Tendon Lengthening: A Case Report

2021 ◽  
Vol 111 (3) ◽  
Author(s):  
Konstantinos Tilkeridis ◽  
Anthimos Keskinis ◽  
Konstantinos Paraskevopoulos ◽  
Georgios Papadopoulos ◽  
Christos Chatzipapas ◽  
...  
Keyword(s):  
Case Report ◽  
Soft Tissue ◽  
Achilles Tendon ◽  
Soft Tissue Release ◽  
Foot Deformities ◽  
Foot Deformity ◽  
Surgical Morbidity ◽  
Tendon Lengthening ◽  
First Case ◽  
Achilles Tendon Lengthening

Stiff equinocavus foot deformities are challenging clinical entities that may be treated with osteotomies and extensive soft-tissue release. The most common causes of such lesions are neglected trauma and Charcot-Marie-Tooth disease; other causes include burns, neurologic diseases, and compartment leg syndrome. Conventional treatments, including extensive soft-tissue release, osteotomies, and arthrodesis combined with or without internal splinting, may result in severe complications such as neurovascular or soft-tissue damage and shortening of the foot. The Ilizarov technique may be superior to the traditional approach, because it allows surgeons to apply gradual and titrated correction of individual components of complex deformities and results in minimal surgical morbidity without shortening of the foot. This is the first case report in the literature describing the simultaneous use of Cole osteotomy, combined with external Ilizarov hinged frame fixation, soft-tissue release, and Achilles tendon lengthening for the treatment of an extreme neglected stiff equinocavus foot deformity.

Aspergilloma clinically mimicking Achilles tendon xanthoma in a non-immunocompromised patient: A case report

2020 ◽  
Vol 26 (8) ◽  
pp. 943-945
Author(s):  
Young Hwan Park ◽  
Young Ha Kim ◽  
Jae Young Kim ◽  
Gi Won Choi ◽  
Hak Jun Kim
Keyword(s):  
Case Report ◽  
Achilles Tendon ◽  
Immunocompromised Patient ◽  
Tendon Xanthoma ◽  
Achilles Tendon Xanthoma

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.

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