scholarly journals Cerebellar Dysplastic Gangliocytoma: Case Report

2020 ◽  
Vol 39 (03) ◽  
pp. 232-234
Author(s):  
Paulo Moacir Mesquita Filho ◽  
Katriane Susin ◽  
Luiza Rech Köhler ◽  
Leticia Bassani Devens ◽  
Daniela Schwingel ◽  
...  
Keyword(s):  
Case Report ◽  
Unknown Origin ◽  
Cerebellar Tumor ◽  
Rare Type ◽  
Dysplastic Gangliocytoma ◽  
Neurological Signs

AbstractLhermitte-Duclos disease (LDD), or cerebellar dysplastic gangliocytoma, is a rare type of cerebellar tumor, from unknown origin. Patients can be asymptomatic for several years, but there are usually imprecise neurological signs for long periods.

Arterite de Takayasu em Gestante: Relato de Caso / Takayasu Arteritis in Pregnancy: Case Report

1970 ◽  
Vol 5 (4) ◽  
pp. 61-66
Author(s):  
Patrícia Resende Penido ◽  
Rhanna Junqueira Westin de Carvalho ◽  
Roger Willian Moraes Mendes
Keyword(s):  
Case Report ◽  
Takayasu Arteritis ◽  
Imaging Techniques ◽  
Unknown Origin ◽  
Pregnant Patient ◽  
Immunosuppressive Drugs ◽  
Clinical Treatment ◽  
Satisfactory Outcome

RESUMOIntrodução: A Arterite de Takayasu (AT) consiste em uma vasculopatia de origem indefinida, sendo de caráter crônico, que afeta a aorta e seus ramos principais. Em gestantes é uma condição complexa, em que o tratamento clínico é realizado com restrições. A utilização de corticoides tem sido favorável no controle inflamatório, principalmente naqueles casos em que antes da gravidez se fazia uso de imunossupressores. Casuística: Foi relatado um caso de uma gestante portadora de AT, através da análise de prontuário e de exames complementares, sendo realizado o pré-natal pelas equipes de Obstetrícia e Reumatologia, onde foi realizado tratamento clínico com corticoides, mostrando uma evolução satisfatória, ocorrendo apenas uma hospitalização que foi seguida de uma cesárea na trigésima sexta semana de gravidez, com recém nato saudável de 3.810g. Discussão: A AT pode estar associada a várias etiologias, sendo a gênese pouco conhecida. O diagnóstico na maioria das vezes é demorado, pela dificuldade da suspeita clínica, além de demandar o uso de técnicas de imagem mais sofisticadas. A gestação associada é fenômeno raro, já que as portadoras são orientadas a evitarem a gravidez. O controle clínico permitiu uma gestação sem grandes complicações e serviu como meio para levar a gestação até praticamente o fim do terceiro trimestre. Conclusão: Deve-se ressaltar o papel do acompanhamento clínico, especialmente com esta pan-arterite, mostrando os medicamentos que podem ser utilizados nesse grupo, especialmente quando se usava imunossupressores antes da gravidez. Palavras chave: Arterite de Takayasu, Gravidez, Vasculite. ABSTRACT:Introduction: Takayasu's arteritis (TA) consists of a vascular disease of unknown origin and chronic nature, which affects the aorta and its main branches. In pregnant women it is a complex condition, in which the clinical treatment is performed with restrictions. The use of corticosteroids has been favorable to control inflammation, especially in those cases when immunosuppressant had been used before pregnancy. Case Report: A case of a pregnant patient with TA has been reported through the analysis of medical records and laboratory tests. The Obstetrics and Rheumatology staff performed the prenatal care, and clinical treatment with corticosteroids was done showing a satisfactory outcome. There was only one hospitalization of the patient, which was followed by a cesarean in the thirty sixth week of pregnancy.  The newborn was a healthy one, weighing 3.810g. Discussion: TA may be associated with several etiologies, and the genesis is little known. The diagnosis most often takes time due to the difficulty of clinical suspicion, and requires the use of more sophisticated imaging techniques. The pregnancy is rare phenomenon, since the carriers are advised to avoid pregnancy. The clinical management allowed a pregnancy without major complications and served as a means to carry the pregnancy to almost the end of the third quarter. Conclusion: The role of the clinical follow-up should be noticed especially with this pan-arteritis, showing the drugs that can be used in this group, especially when there is use of immunosuppressive drugs before pregnancy. Keywords: Takayasu Arteritis, Pregnancy, Vasculitis.

scholarly journals Prolonged Survival in Patients with Metastatic HER2-Positive Inflammatory Breast Cancer: A Case Report and Review of the Literature

2021 ◽  
pp. 1071-1079
Author(s):  
Jennifer Y. Ge ◽  
Beth Overmoyer
Keyword(s):  
Breast Cancer ◽  
Case Report ◽  
Inflammatory Breast Cancer ◽  
Targeted Therapies ◽  
De Novo ◽  
Review Of The Literature ◽  
Her2 Positive ◽  
Rare Type ◽  
Favorable Prognosis ◽  
Poor Outcomes

Inflammatory breast cancer (IBC) is a rare type of breast cancer that is associated with poor outcomes compared with non-IBC. Overexpression of HER2 is enriched in IBC, and those with HER2-positive disease have a relatively favorable prognosis, with improved survival over the last two decades driven by the advent of novel targeted therapies. Here, we present two patients who have survived for over 10 years after being diagnosed with de novo metastatic HER2-positive IBC. We review the data for the treatments available for metastatic HER2-positive IBC and the evolving treatment recommendations for this disease.

scholarly journals Mood symptoms Associated with CADASIL Syndrome: A Case Report

CNS Spectrums ◽  
2021 ◽  
Vol 26 (2) ◽  
pp. 144-144
Author(s):  
Asad Shaikh ◽  
Joel Idowu
Keyword(s):  
Case Report ◽  
Clinical Symptoms ◽  
Psychiatric Symptoms ◽  
Small Vessel Disease ◽  
Altered Mental Status ◽  
Hereditary Disease ◽  
African American Female ◽  
Psychiatric Disturbance ◽  
Rare Type ◽  
Parietal Lobes

AbstractObjectiveTo discuss the psychiatric symptoms that are associated with CADASIL syndrome Abstract Cerebral:Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a rare type of hereditary disease involving the small cerebral vessels. The clinical symptoms are various and include recurrent ischemic strokes, migraine with aura, seizures with epilepsy, psychiatric problems such as mood disturbances, and progressive cognitive decline leading to dementia. This disease needs awareness amongst the psychiatrists even though it is discussed much more in neurology literature. Psychiatric symptoms are seen in 20–41% of patients with CADASIL syndrome (1, 2). Psychiatric symptoms are actually the initial presentation in 15% of the cases. (3) The psychiatric disturbance most reported are mood disturbances (9–41%) especially depression. Here a 42-year-old African American female was brought to the hospital emergency room after she was found wandering in the streets. Psychiatry was consulted for altered mental status. Upon evaluation by the psychiatric consult service she was only oriented to person, depressed, anxious and complaining of headaches. Initial CT scan showed marked small vessel disease and old lacunar infarcts in the basal ganglia and right corona radiata. Magnetic Resonance Imaging (MRI) of the brain showed acute infarcts in the right posterior frontal and right parietal lobes along with old infarcts. Her symptoms and findings on imaging were consistent with CADASIL syndrome. Once the diagnosis was confirmed and prior records were obtained patient was resumed on an antidepressant and anxiolytic.ConclusionThe purpose of this case report was to discuss psychiatric symptoms associated with CADASIL syndrome. Although there has been research showing a relationship between vascular disease and depression, a review of the literature suggests that there needs to be more research done to explore other psychiatric disturbances that may be seen with this syndrome. Psychiatric symptoms that are untreated can have the potential to further impact the quality of life therefore psychiatrists need to be aware of this syndrome in order to treat these patients promptly.References1 https://bmcmedicine.biomedcentral.com/articles/10.1186/s12916-017-0778-8 2 http://dx.doi.org/10.32474/OJNBD.2018.01.000101 3 https://pdfs.semanticscholar.org/47f6/5952ee3c5dcf2a61345f704914b17fa8dc0d.pdf

scholarly journals Primary small cell type of non-Hodgkin lymphoma of the colon: a case report

2020 ◽  
Vol 14 (1) ◽  
Author(s):  
Eyal Meir ◽  
Chovav Handler ◽  
Uri Kaplan ◽  
Doron Kopelman ◽  
Ossama A. Hatoum
Keyword(s):  
Case Report ◽  
Hodgkin Lymphoma ◽  
Small Cell ◽  
Primary Lymphoma ◽  
Cell Type ◽  
Rare Type ◽  
Case Presentation ◽  
Carcinoma Of The Colon ◽  
Non Hodgkin Lymphoma ◽  
High Level

Abstract Introduction Primary lymphoma of the colon is exceedingly rare and comprises 0.2–1% of all colon tumors. The most common subtype of lymphoma in the colon is non-Hodgkin lymphoma. Symptoms are often nonspecific, and treatment varies between chemotherapy alone and a combination of surgery and chemotherapy. Case presentation We describe a case of a Ashkenazi Jew patient who presented in the typical way that carcinoma of the colon might present but turned out to have a very rare type of tumor in both its histology and its location. Conclusion There was apparent discordance between the relative bulkiness and gross appearance of the tumor with the unrevealing result of the biopsies, demanding a high level of suspicion as to the actual presence and possible type of such a tumor in the future.

STUDY OF CLINICAL CASES OF MYOCHE’S MYOPATHY AND DIFFERENTIAL DIAGNOSIS WITH OTHER TYPES OF ADVERSE MYOPATHIES

2021 ◽  
Author(s):  
K. Sarazhyna ◽  
Y. Solodovnikova ◽  
A. Son
Keyword(s):  
Case Report ◽  
Genetic Testing ◽  
Skeletal Muscles ◽  
Molecular Genetic ◽  
Clinical Signs ◽  
Lower Limbs ◽  
Molecular Genetic Testing ◽  
Membrane Repair ◽  
Rare Type ◽  
A Cell

Markesbery-Griggs myopathy, Miyoshi type (MM) is a rare type of myopathy, a form muscular dystrophy with the main involvement of the lower girdle and distal parts of the legs. Due to complexity of genetic testing, the diagnosis is mainly made on the neurological examination of the patient, which adds value to this case report. The childhood or adolescence onset of the disease is characterized initially by the calf muscles` wasting, accompanied by the severe elevation of the serum creatine kinase, as well as a slowly progressive ascending course. The disease refers to dysferlinopathies with various mutations in the DYSF gene. The dysferlin protein is localized in the plasma membrane and in the T-tubule system of skeletal muscles. Physiologically, skeletal muscles are constantly exposed to micromembrane lesions. Depending on the severity, these damages are restored using various complexes. One of the main reparative complexes is the dysferlin-dependent mechanism. Mutations can lead to a defect in the membrane repair, causing the influx of Ca 2+ into the cell, which leads to a cell`s destruction. There are three genetically identifiable types of Miyoshi myopathy: MMD1, MMD2, MMD3. The main clinical signs of the disease are the muscle weakness and atrophy, with predominant involvement of the distal parts of the lower limbs, especially in the gastrocnemius and plantar muscles. The MM causes tip toe walking disturbances and difficulties in climbing the stairs. Progression of the disease and further atrophy leads to the wasting of the lower girdle muscles, mainly gluteal ones. Peculiarity of these myopathies is the absence of cardiomyopathy, due to the immunity of cardiomyocytes to a deficiency of the protein dysferelin. Diagnosis is made on the basis of muscle biopsy and molecular genetic testing. The gold standard is immunoblotting or immunohistochemistry. One of treatment methods is the use of improperly folded dysferlin (treatment with a proteasome inhibitor MG-132) in fibroblasts with restoration of membrane sealing. The aim of this case report is to present an example of a possible clinical diagnosis of MM in a young man, in the absence of opportunities for molecular genetic testing.

scholarly journals Leptospirosis presenting as severe cardiogenic shock: A case report

2018 ◽  
Vol 19 (4) ◽  
pp. 351-353
Author(s):  
E Forbat ◽  
MJ Rouhani ◽  
C Pavitt ◽  
S Patel ◽  
R Handslip ◽  
...  
Keyword(s):  
Case Report ◽  
Cardiogenic Shock ◽  
Social History ◽  
Rare Case ◽  
Clinical Course ◽  
Unknown Origin ◽  
Case Presentation ◽  
Pyrexia Of Unknown Origin ◽  
Severe Cardiogenic Shock ◽  
Infectious Illness

Background Leptospirosis is a rare infectious illness caused by the Spirochaete Leptospira. It has a wide-varying spectrum of presentation. We present a rare case of severe cardiogenic shock secondary to leptospirosis, in the absence of its common clinical features. Case presentation A 36-year-old woman presented to our unit with severe cardiogenic shock and subsequent multi-organ failure. Her clinical course was characterised by ongoing pyrexia of unknown origin with concurrent cardiac failure. She was initially managed with broad-spectrum antibiotics and inotropes. Percutaneous cardiac biopsy excluded major causes of myocarditis. On day 21 after presentation, she was found to be IgM-positive for leptospirosis. Conclusions This is a rare case of severe cardiogenic shock secondary to leptospirosis infection. The case also highlights the importance of obtaining a thorough social history when assessing a patient with an unusual presentation, as clues can often be missed.

scholarly journals Tuberculous Pachymeningitis Presenting as a Diffused Dural Thickening in a Patient with Chronic Headache and Recurrent Neurological Abnormalities for More than a Decade: A Case Report and a Review of the Literature

2018 ◽  
Vol 2018 ◽  
pp. 1-5
Author(s):  
C. L. Fonseka ◽  
T. E. Kanakkahewa ◽  
S. D. A. L. Singhapura ◽  
J. S. Hewavithana ◽  
L. P. Kolambage ◽  
...  
Keyword(s):  
Case Report ◽  
Chronic Headache ◽  
Facial Nerve Palsy ◽  
Extrapulmonary Tuberculosis ◽  
Granulomatous Inflammation ◽  
Mantoux Test ◽  
Resonance Imaging ◽  
Neurological Signs ◽  
Neurological Abnormalities ◽  
Contrast Enhanced

Background. Tuberculous pachymeningitis is a rare form of extrapulmonary tuberculosis usually suspected from the detection of thickening of the dura in contrast-enhanced magnetic resonance imaging. Progressive nature of the disease can lead to chronic headache with focal neurological signs due to compression from the thickened dura. Case Report. We report a 40-year-old female who presented with chronic headache over a decade associated with recurrent neurological abnormalities including optic neuritis, hemisensory loss, migraine, facial nerve palsy, and recurrent vertigo. Although there was an initial perceived response to steroids, the patient had a subsequent progressive course. On investigations, she was found to have a diffused dural thickening on contrast MRI with a strongly positive Mantoux test with caseating necrotizing granulomatous inflammation on dural histology. With initiation of antituberculous medication with steroids, the patient markedly improved, and the medication for tuberculosis was continued for a year with good response. Conclusion. Primary tuberculous pachymeningitis should be suspected in a patient complaining of prolonged headache with focal neurological signs when MRI evidence of dural thickening is detected, and another focus of tuberculosis was not found. Prompt suspicion with image-guided dural biopsy for histology would help to confirm the diagnosis.

scholarly journals Posterior reversible encephalopathy syndrome: A case report

2015 ◽  
Vol 72 (8) ◽  
pp. 735-739
Author(s):  
Dejan Kostic ◽  
Biljana Brkic-Georgievski ◽  
Aleksandar Jovanovski ◽  
Smiljana Kostic ◽  
Drazen Ivetic ◽  
...  
Keyword(s):  
Case Report ◽  
White Matter ◽  
Posterior Reversible Encephalopathy Syndrome ◽  
Impaired Consciousness ◽  
Posterior Reversible Encephalopathy ◽  
Neurological Signs ◽  
Appropriate Treatment ◽  
History Of ◽  
Reversible Encephalopathy ◽  
The Brain

Posterior reversible encephalopathy syndrome (PRES) is characterized by the following symptoms: seizures, impaired consciousness and/or vision, vomiting, nausea, and focal neurological signs. Diagnostic imaging includes examination by magnetic resonance (MR) and computed tomography (CT), where brain edema is visualized bi-laterally and symmetrically, predominantly posteriorly, parietally, and occipitally. Case report. We presented a 73-year-old patient with the years-long medical history of hipertension and renal insufficiency, who developed PRES with the symptomatology of the rear cranium. CT and MR verified changes in the white matter involving all lobes on both sides of the brain. After a two-week treatment (antihypertensive, hypolipemic and rehydration therapy) clinical improvement with no complications occurred, with complete resolution of changes in the white matter observed on CT and MR. Conclusion. PRES is a reversible syndrome in which the symptoms withdraw after several days to several weeks if early diagnosis is made and appropriate treatment started without delay.

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