scholarly journals Multiple Cavernous Malformations: A Case Report

2020 ◽  
Vol 3 (1) ◽  
pp. 5-13
Author(s):  
Fernando Gutiérrez Rincón Oscar ◽  
◽  
Moreno García Santiago ◽  
José Hoyos Bedoya Maria ◽  
Juliana Builes Cerón Sarah ◽  
...  
Keyword(s):  
Case Report ◽  
Medical Management ◽  
Clinical Case ◽  
Autosomal Dominant ◽  
Clinical Presentation ◽  
Clinical Manifestations ◽  
Epileptic Seizures ◽  
Cavernous Malformations ◽  
Arteries And Veins ◽  
Main Clinical Manifestation

Cavernous malformations are alterations in the conformation of arteries and veins that can be found both intracranial and intraspinal; however, the variables are very important for the diagnosis and treatment of patients. The main clinical manifestation is epileptic seizures in cases of bleeding, but in many cases they are asymptomatic in the course of life and are found as findings related to neuroimaging studies for other reasons. It is more common to find unique lesions, but in cases of multiple lesions it is likely to find an autosomal dominant hereditary factor, which makes the person more likely to convulse due to sporadic bleeding. Medical management focuses on the clinical presentation and management of epileptic seizures, while surgical management takes into account the size, location and bleeding. Below is a clinical case that represents one of the different clinical manifestations and the approach that was given in said patient.

Cowden syndrome

2020 ◽  
Vol 18 (6) ◽  
pp. 76-84
Author(s):  
D.A. Polunina ◽  
◽  
M.E. Bagaeva ◽  
I.F. Tin ◽  
E.V. Pavlovskaya ◽  
...  
Keyword(s):  
Case Report ◽  
Lipid Metabolism ◽  
Genetic Disease ◽  
Clinical Case ◽  
Autosomal Dominant ◽  
Clinical Signs ◽  
Clinical Manifestations ◽  
Cowden Syndrome ◽  
Insufficient Evidence ◽  
Dominant Inheritance

Cowden syndrome is a rare genetic disease with the autosomal dominant inheritance, characterised by a combination of macrocephaly with multiple hamartomas and impaired lipid metabolism. The article presents a clinical case report of this disease in a 8-year-old boy with two genetically confirmed mutations in the genes PTEN and SHDB responsible for the development of Cowden syndrome. At present, there is insufficient evidence about the influence of combined pathogenic mutations in both genes and, consequently, about the possible outcomes and clinical manifestations of the disease. Taking into account the rarity of this pathology, multisystem organ involvement and also the absence of characteristic clinical signs in childhood, a description of this clinical case might be of interest in order to raise the awareness for Cowden syndrome. Key words: Cowden syndrome, hamartomas, PTEN, SDH, succinate dehydrogenase, hypoglycaemia, dyslipidemia

scholarly journals Clinical Presentation of Epileptic Seizures in a Child with a Final Diagnosis of Atrial Fibrillation: A Pediatric Case Report

2016 ◽  
Vol 38 (3) ◽  
pp. 125-126
Author(s):  
Ayse Kacar Bayram ◽  
Ozge Pamukcu ◽  
Sefer Kumandas ◽  
Zubeyde Gunduz ◽  
Mehmet Canpolat ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Case Report ◽  
Clinical Presentation ◽  
Epileptic Seizures ◽  
Final Diagnosis ◽  
Pediatric Case

scholarly journals Case report of von willebrand disease after tonsillotomy and adenotomy in a child

2021 ◽  
Vol 20 (1) ◽  
pp. 89-92
Author(s):  
S. S. Makhmudov ◽  
◽  
A. A. Ochilzoda ◽  
F. P. Dzhamolov ◽  
A. Z. Mutalibov ◽  
...  
Keyword(s):  
Case Report ◽  
Clinical Practice ◽  
Surgical Treatment ◽  
Clinical Case ◽  
Clinical Manifestations ◽  
Von Willebrand Disease ◽  
Rare Occurrence ◽  
Von Willebrand

The authors present a clinical case of von Willebrand disease detected after tonsillotomy and adenotomy in a child. The peculiarity of this observation lies in the rare occurrence of von Willebrand disease in clinical practice, as well as the manifestation of the clinical manifestations of this pathology against the background of surgical treatment in a child.

scholarly journals MESENCHYMAL TUMORS OF THE COLON AND RECTUM: DIAGNOSIS, TREATMENT, PROGNOSIS (case report and review)

2020 ◽  
Vol 19 (3) ◽  
pp. 97-112
Author(s):  
O. A. Mainovskaya ◽  
M. A. Tarasov ◽  
E. M. Romanova ◽  
S. V. Chernyshov
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Clinical Case ◽  
Clinical Manifestations ◽  
Mesenchymal Tumor ◽  
Mesenchymal Tumors ◽  
Different Types ◽  
Colon And Rectum ◽  
Treatment Prognosis ◽  
Derivatives Of

Mesenchymal tumors of the colon and rectum are extremely rare and do not have specific clinical manifestations, their diagnosis and staging cause certain difficulties.Different types of mesenchymal tumors differ in prognosis and choice of the treatment. It explains the importance of differential diagnosis of these neoplasms among themselves and tumors-derivatives of other embryonic structures.The article describes the clinical case of a rare mesenchymal tumor and management of the patient.

scholarly journals A clinical presentation of drug-induced cardiotoxicity event in an oncohematology patient: A case report

2020 ◽  
Author(s):  
Ainur Bilmakhanbetova ◽  
Meruyert Beisenbay ◽  
Daulet Marat ◽  
Gulnur Zhakhina
Keyword(s):  
Case Report ◽  
Acute Leukemia ◽  
Inpatient Treatment ◽  
Clinical Case ◽  
Clinical Presentation ◽  
Underlying Disease ◽  
Clinical Death ◽  
Qtc Prolongation ◽  
Drug Induced ◽  
Selection Of

This case report deals with a clinical case of a patient who underwent inpatient treatment of the underlying disease acute leukemia. In the selection of treatment for complications, medications of various groups were prescribed. This therapy led to the clinical death of the patient, caused by drug-induced QT/QTc prolongation.

scholarly journals Childhood epileptic seizures imitating migraine and encephalitis

2012 ◽  
Vol 140 (9-10) ◽  
pp. 558-562
Author(s):  
Ruzica Kravljanac ◽  
Milena Djuric
Keyword(s):  
Antiepileptic Drugs ◽  
Clinical Presentation ◽  
Late Onset ◽  
Clinical Manifestations ◽  
Epileptic Seizures ◽  
Childhood Epilepsy ◽  
Visual Hallucinations ◽  
Seizure Recurrence ◽  
Acute Therapy ◽  
Epileptic Discharges

Introduction. Paroxismal events can resemble epileptic seizures, however, some epileptic seizures, especially benign occipital childhood epilepsies can imitate migraine, cycling vomiting or encephalitis. Objective. The aim of this study was evaluation of clinical and electroencephalographic (EEG) features and outcome in children with benign occipital childhood epilepsies. Methods. Investigation included 18 patients with benign occipital childhood epilepsies hospitalized in the period from 2007 to 2010. The diagnosis was based on clinical and EEG characteristics of seizures, while treatment included acute therapy for seizures and chronic antiepileptic drugs. Prognosis was analyzed in terms of neurological outcome and seizure recurrence rate. Results. Benign occipital childhood epilepsy with early onset was diagnosed in 15 children. Vegetative symptoms, mostly ictal vomiting (13), eye deviation and loss of consciousness (13) dominated in the clinical presentation. The most frequent EEG findings showed occipital epileptic discharges. Benign occipital childhood epilepsy with late onset was diagnosed in three cases. Seizures were manifested by visual hallucinations, headache and secondary generalized convulsions. All three patients were administered chronic antiepileptic drugs and had good outcome. Conclusion. In our patients, clinical manifestations of benign occipital epilepsies had some similarities with clinical features of migraine and encephalitis. It could explain misdiagnosis in some of them. Knowledge about main features and differences between each of these disorders is crucial for making appropriate diagnosis.

scholarly journals Case Report: Anti-NMDAR Encephalitis With Anti-MOG CNS Demyelination After Recurrent CNS Demyelination

2021 ◽  
Vol 12 ◽  
Author(s):  
Bing-Yan Ren ◽  
Yi Guo ◽  
Jing Han ◽  
Qian Wang ◽  
Zai-Wang Li
Keyword(s):  
Case Report ◽  
Brain Mri ◽  
Clinical Manifestations ◽  
Epileptic Seizures ◽  
Autoimmune Disorder ◽  
Pulse Therapy ◽  
Nmdar Encephalitis ◽  
Cns Demyelination ◽  
Magnetic Resonance Imaging Mri ◽  
The Right

Introduction: Anti-N-methyl-d-aspartate receptor (NMDAR) encephalitis, a serious neurological autoimmune disorder caused by autoantibodies with diverse clinical manifestations, may simultaneously onset with antimyelin oligodendrocyte glycoprotein (MOG) demyelination after recurrent central nervous system (CNS) demyelination.Case Report: We present a case of anti-NMDAR encephalitis combining with anti-MOG CNS demyelination following recurrent CNS demyelination. A 38-year-old man admitted to hospital developed epileptic seizures following recurrent episodes of cross-sensory disturbance and dizziness. Magnetic resonance imaging (MRI) showed a demyelinating lesion in the right brainstem initially. Despite a good response to methylprednisolone pulse therapy at the beginning, the patient still had relapses and progression after corticosteroid reduction or withdrawal. Then brain MRI discovered new serpentine lesions involving extensive cerebral cortex on his second relapse. Repeat autoantibodies test indicated cerebrospinal fluid (CSF) NMDAR antibodies coexisted with MOG-Abs simultaneously, suggesting the diagnosis of anti-NMDAR encephalitis with anti-MOG CNS demyelination.Results: After a definite diagnosis, the patient was treated with mycophenolate mofetil (MMF) and corticosteroid. He was discharged after his symptoms ameliorated. No neurological sequels remained, and there were no effects on his activities of daily living after 6 months of immunoregulatory therapy of MMF and corticosteroid.Conclusion: For individuals with recurrent CNS demyelination, especially combining with cortical encephalitis, repeated detection of autoantibodies against AE, and demyelination in CSF/serum can be helpful to enable a definite early diagnosis. For patients who suffer from anti-NMDAR encephalitis combining with anti-MOG CNS demyelination, second-line immunotherapy is recommended when first-line treatment such as steroids, intravenous immunoglobulin G (IVIG) and plasma exchange has been proven ineffective to prevent the relapse of disease.

scholarly journals Clinical presentation of a horse-derived biomaterial and its Biocompatibility: A Clinical Case Report

2009 ◽  
Vol 39 (Suppl) ◽  
pp. 287 ◽  
Author(s):  
Ki-Tae Koo ◽  
Jang-Yeol Park ◽  
Jun-Seok Park ◽  
Tae-Il Kim ◽  
Yang-Jo Seol ◽  
...  
Keyword(s):  
Case Report ◽  
Clinical Case ◽  
Clinical Presentation

scholarly journals Hemorrhagic thrombocytopathy with defective signal transduction CalDAG-GEFI

2021 ◽  
Vol 20 (3) ◽  
pp. 126-131
Author(s):  
A. O. Koposova ◽  
D. V. Fedorova ◽  
A. V. Pshonkin ◽  
A. V. Poletaev ◽  
E. A. Seregina ◽  
...  
Keyword(s):  
Signal Transduction ◽  
Case Report ◽  
Rare Disease ◽  
Clinical Case ◽  
Clinical Manifestations ◽  
The World ◽  
The Moment

Hemorrhagic thrombocytopathy with defective signal transduction CalDAG-GEFI is a rare disease associated with a mutation in the RASGRP2 gene. At the moment, this disease is described in 10 person in the world. We present clinical case report of this pathology of a 9-year-old child. We also offer a review of the available literature about pathogenetic features, clinical manifestations and prevalence of this rare disease. The patient’s parents gave their consent to the use of their child’s data, including photographs, for research purposes and in publications.

scholarly journals Imaging to intervention: a review of what the Interventionalist needs to Know about Hereditary Hemorrhagic Telangiectasia

2021 ◽  
Vol 4 (1) ◽  
Author(s):  
Stephanie Sobrepera ◽  
Eric Monroe ◽  
Joseph J. Gemmete ◽  
Danial Hallam ◽  
Jason W. Pinchot ◽  
...  
Keyword(s):  
Hereditary Hemorrhagic Telangiectasia ◽  
Multidisciplinary Approach ◽  
Autosomal Dominant ◽  
Clinical Manifestations ◽  
Massive Hemorrhage ◽  
Endovascular Management ◽  
Autosomal Dominant Disorder ◽  
Screening Guidelines ◽  
Organ Systems ◽  
Arteries And Veins

AbstractHereditary hemorrhagic telangiectasia (HHT) is a disorder that affects 1 in 5000–10,000 people worldwide and can result in devastating complications such as cerebral abscess, stroke, massive hemorrhage, and even death. HHT is an autosomal dominant disorder that leads to the formation of abnormal communication between the arteries and veins with a resultant spectrum of vascular anomalies. The disorder affects many organ systems and thus requires a dedicated multidisciplinary approach. Interventional radiologists are vital members of this team providing expertise not only in disease management, but in complex embolotherapy, helping to maintain the health of these patients. This article reviews clinical manifestations, screening guidelines, diagnostic criteria, and endovascular management of HHT.

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