scholarly journals Osteoarticular manifestations as initial symptoms of WD with novel compound heterozygote mutations in the ATP7B gene: a case report

2021 ◽  
Vol 10 (4) ◽  
pp. 1026-1033
Author(s):  
Jia Li ◽  
Qing Lu ◽  
Jianyu Yu ◽  
Min Ji ◽  
Liangjing Lu
Keyword(s):  
Case Report ◽  
Compound Heterozygote ◽  
Atp7b Gene ◽  
Initial Symptoms

scholarly journals O06 Inflammatory arthritis triggered by COVID-19

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Ghazal Ansari ◽  
Frances A Borg ◽  
Gouri Koduri
Keyword(s):  
Case Report ◽  
Sore Throat ◽  
Inflammatory Arthritis ◽  
Morning Stiffness ◽  
Good Prognosis ◽  
Knee Joints ◽  
Mediastinal Lymphadenopathy ◽  
Severe Illness ◽  
Initial Symptoms ◽  
Systemic Examination

Abstract Case report - Introduction COVID-19 is an infectious disease caused by a newly discovered β-coronavirus, named Severe Acute Respiratory Syndrome-Coronavirus-2 (SARS-CoV-2), resulted in a recent pandemic of COVID-19. As a novel pathogen, the nature and degree of risk of COVID-19 to individuals with rheumatic diseases were unknown, as was its ability to induce musculoskeletal and autoimmune disease. Concerns were related to the chronic autoimmune or inflammatory disease and immune suppressive medications to treat it. The consequences of this infection are currently not fully understood, including the autoimmune sequelae.  Here we present two cases of inflammatory arthritis with a temporal link to COVID-19.  Case report - Case description: Case 1 A 37-year-old Caucasian male was referred to Rheumatology with severe joint pains. He developed flu-like symptoms in early April 2020, with myalgia, fever, sore throat, anosmia, and fatigue. SARS-CoV-2 PCR swab was positive. He recovered from these initial symptoms, however 4 weeks later, he developed pain and swelling in his hands, feet, ankles, and knee joints with early morning stiffness. On examination, there was marked synovitis of hands, wrists, knees, and ankle joints. Systemic examination was otherwise normal. Case 2 A 70-year-old lady developed sore throat and cough started in late March 2020. 3 weeks later, she became generally unwell with lethargy and fatigue. Her cough gradually improved, but she continued to experience breathlessness on minimal exertion. In early May 2020, she developed excruciating pain in her hands, wrists, and right knee joints with morning stiffness.  On examination she had synovitis in the wrists, small joints of the hands and right knee. Systemic examination otherwise was unremarkable. Given the severe inflammatory arthritis, both patients were commenced on oral prednisolone with remarkable improvement 4 weeks later. Case report - Discussion We present 2 cases of acute inflammatory arthritis, which were suspected to have been triggered by COVID-19 viral infection without any musculoskeletal complications with good prognosis. COVID-19 is a new disease and our understanding of it is continuing to grow. The initial concern was that COVID-19 -19 infection may lead to severe illness in immunocompromised patients, including those and with rheumatic conditions. However, this was not seen in large numbers. To our knowledge, COVID-19-related inflammatory arthritis has not previously been reported in the literature. Our current understanding of the COVID-19 pathogenic mechanisms is limited. However, it is likely that the disease may evolve in overlapping phases. Case report - Key learning points In both cases, it was suggested that COVID-19 19 may be a triggering factor for inflammatory arthritis with good prognosis and settled with steroid therapy.  It was suggested that arthritis may occur in patients with COVID-19, in previously fit and well patients without any underlying co-morbidities and autoimmune rheumatic disease and warrants urgent Rheumatology review. However, all COVID-19 suspected cases should be investigated on an individual basis to exclude other diagnosis to avoid missing other common reversible illnesses. O06 Table 1:Investigations at Baseline and 4 weeks Case 1   Case 2  Baseline4 weeks Baseline4 weeks CRP (<5) mg/L18227694ESR (2-28mm/hour)3 90 Hb (130-180 g/L)14315293114Wbc (4.0-11.0)109/L8.05.311.812.1Neutrophil (1.7-7.5)109/L5.793.289.2910.20Lymphocyte (1.0-4.5) 109/L1.391.381.241.14CK (<200) U/L90 22 ANANegative Negative ENA 0.2 0.3 ANCANegative ND  RF (0-14) U/mL<10 428 CCP (0.4-6.9) U/mL0.8 51 ImmunoglobulinsNormal  IgG,17.9 ComplementsND Normal CXR Bil Hilar enlargement Diffuse widespread air space opacities CT Chest Significant mediastinal Lymphadenopathy with no specific features Multifocal GGO, patchy consolidation, likely recovery stage of COVID-19   

scholarly journals PAINLESS AORTIC DISSECTION WITH INITIAL SYMPTOMS OF PARAPLEGIA AND ACUTE RENAL FAILURE: A CASE REPORT

Heart ◽  
2012 ◽  
Vol 98 (Suppl 2) ◽  
pp. E267-E268
Author(s):  
Zheng Ziyu ◽  
Ye Zi ◽  
Ye Jialin ◽  
Wang Weiping ◽  
Zhan Hong
Keyword(s):  
Renal Failure ◽  
Acute Renal Failure ◽  
Case Report ◽  
Aortic Dissection ◽  
Initial Symptoms

scholarly journals Progressive cardiac involvement in a compound heterozygote Fabry patient: a case report

2018 ◽  
Vol 2 (4) ◽  
Author(s):  
Eliza Jeanette McConnell ◽  
James Every ◽  
Michel Tchan ◽  
Rebecca Kozor
Keyword(s):  
Case Report ◽  
Cardiac Involvement ◽  
Compound Heterozygote ◽  
Fabry Patient

scholarly journals Total resection of a giant retroperitoneal and mediastinal ganglioneuroma—case report and systematic review of the literature

2020 ◽  
Vol 18 (1) ◽  
Author(s):  
Patrick Kirchweger ◽  
Helwig Valentin Wundsam ◽  
Ines Fischer ◽  
Christiane Sophie Rösch ◽  
Gernot Böhm ◽  
...  
Keyword(s):  
Case Report ◽  
Abdominal Cavity ◽  
Positive Family History ◽  
Malignant Degeneration ◽  
Benign Tumors ◽  
Surgical Removal ◽  
Histopathological Analysis ◽  
Review Of The Literature ◽  
Total Resection ◽  
Initial Symptoms

Abstract Background Ganglioneuromas (GNs) are extremely rare, slowly growing, benign tumors that can arise from Schwann cells, ganglion cells, and neuronal or fibrous tissues. Due to their origin from the sympathetic neural crest, they show neuroendocrine potential; however, most are reported to be hormonally inactive. Nevertheless, complete surgical removal is recommended for symptom control or for the prevention of potential malignant degeneration. Case Report A 30-year-old female was referred to our oncologic center due to a giant retroperitoneal and mediastinal mass detected in computed tomography (CT) scans. The initial symptoms were transient nausea, diarrhea, and crampy abdominal pain. There was a positive family history including 5 first- and second-degree relatives. Presurgical biopsy revealed a benign ganglioneuroma. Total resection (TR) of a 35 × 25 × 25 cm, 2550-g tumor was obtained successfully via laparotomy combined with thoracotomy and partial incision of the diaphragm. Histopathological analysis confirmed the diagnosis. Surgically challenging aspects were the bilateral tumor invasion from the retroperitoneum into the mediastinum through the aortic hiatus with the need of a bilateral 2-cavity procedure, as well as the tumor-related displacement of the abdominal aorta, the mesenteric vessels, and the inferior vena cava. Due to their anatomic course through the tumor mass, the lumbar aortic vessels needed to be partially resected. Postoperative functioning was excellent without any sign of neurologic deficit. Conclusion Here, we present the largest case of a TR of a GN with retroperitoneal and mediastinal expansion. On review of the literature, this is the largest reported GN resected and was performed safely. Additionally, we present the first systematic literature review for large GN (> 10 cm) as well as for resected tumors growing from the abdominal cavity into the thoracic cavity.

scholarly journals Are Mutations in the DHRS9 Gene Causally Linked to Epilepsy? A Case Report

Medicina ◽  
2020 ◽  
Vol 56 (8) ◽  
pp. 387
Author(s):  
Francesco Calì ◽  
Maurizio Elia ◽  
Mirella Vinci ◽  
Luigi Vetri ◽  
Edvige Correnti ◽  
...  
Keyword(s):  
Case Report ◽  
Protein Function ◽  
Early Onset ◽  
Neuronal Excitability ◽  
Compound Heterozygote ◽  
Aminobutyric Acid ◽  
Missense Mutations ◽  
Gamma Aminobutyric Acid ◽  
Whole Exome ◽  
Positive Modulator

The DHRS9 gene is involved in several pathways including the synthesis of allopregnanolone from progesterone. Allopregnanolone is a positive modulator of gamma aminobutyric acid (GABA) action and plays a role in the control of neuronal excitability and seizures. Whole-exome sequencing performed on a girl with an early onset epilepsy revealed that she was a compound heterozygote for two novel missense mutations of the DHRS9 gene likely to disrupt protein function. No previous studies have reported the implication of this gene in epilepsy. We discuss a new potential pathogenic mechanism underlying epilepsy in a child, due to a defective progesterone pathway.

Feasibility of RNA studies on illegitimate transcription for molecular characterization of splicing mutations in the ATP7B gene: A case report

2012 ◽  
Vol 26 (2) ◽  
pp. 63-65 ◽  
Author(s):  
Antonietta Zappu ◽  
Maria Barbara Lepori ◽  
Simona Incollu ◽  
Valentina Dessì ◽  
Maria Cristina Noli ◽  
...  
Keyword(s):  
Case Report ◽  
Molecular Characterization ◽  
Atp7b Gene ◽  
Splicing Mutations ◽  
Illegitimate Transcription

scholarly journals Latent Schizencephaly With Psychotic Phenotype or Schizophrenia With Schizencephaly? A Case Report and Review of the Literature

2018 ◽  
Vol 50 (1) ◽  
pp. 13-19 ◽  
Author(s):  
Filip Tylš ◽  
Martin Brunovský ◽  
Kateřina Šulcová ◽  
Barbora Kohútová ◽  
Zuzana Ryznarová ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Case Report ◽  
Magnetic Resonance ◽  
Negative Symptoms ◽  
First Episode ◽  
Resonance Imaging ◽  
Predisposing Factor ◽  
Perinatal Pathology ◽  
Initial Symptoms ◽  
Rhythmic Delta Activity

Objectives. Although schizencephaly belongs to the class of neurodevelopmental disorders, which are a well-known predisposing factor for psychosis, there is a lack of relevant studies and diagnostic guidelines on this relationship. Method. A case report of first-episode psychosis with persistent negative symptoms associated with schizencephaly is described and compared with 7 other cases found in the literature. Results. We found perinatal pathology, cognitive deficit, and EEG abnormality in a patient with atypical initial symptoms of psychosis such as olfactory hallucinations. Abnormal EEG findings (left frontal spikes and frontal intermittent rhythmic delta activity) called for magnetic resonance imaging, which revealed left parieto-occipital closed-lip schizencephaly. The patient exhibited a partial response to low-dose amisulpride treatment. Conclusion. We conclude that schizencephaly in our patient was at first asymptomatic and later developed into clinically manifest schizophrenia-like disorder. Both magnetic resonance imaging and EEG were essential tools for establishing this diagnosis.

scholarly journals Atypical Presentation of Glioblastoma Multiforme

2018 ◽  
Author(s):  
Wissam Al-Janabi ◽  
Renee Krabs ◽  
Ximena Arcila-Londono ◽  
Iram Zaman ◽  
Bashiruddin K Hamad
Keyword(s):  
Case Report ◽  
Glioblastoma Multiforme ◽  
Intracranial Pressure ◽  
Brain Mri ◽  
Stage Iv ◽  
Signs And Symptoms ◽  
Careful Analysis ◽  
World Health ◽  
Atypical Presentation ◽  
Initial Symptoms

Background: Glioblastoma multiforme (GBM) is a highly malignant glial tumour classified by the World Health Organization (WHO) as a stage IV astrocytoma. It varies in shape and size and can be cystic, vascular and necrotic. It often appears as a ring-enhancing lesion on magnetic resonance imaging (MRI). The most common symptoms of GBM, such as headache, vomiting and seizures, are due to increased intracranial pressure. The objective of this case report is to describe an atypical presentation of GBM. Case Report: A 53-year-old woman of Italian origin presented with a 2-week history of lack of coordination in her hands and some difficulty in speech. Electromyography for assessment of her arms and cranial bulbar function was normal. However, 2 days later, the patient presented to the emergency department with progressive weakness in her left arm and leg as well as difficulty in speech. Mild left facial asymmetry was noted. A brain MRI revealed a right frontal mass. Stereotactic surgical resection was performed 2 days later, and biopsy confirmed the diagnosis of GBM. Although headache and other features of raised intracranial pressure are the most common initial symptoms of GBM, any atypical neurological or psychiatric presentation in an adult patient should raise suspicion for this tumour. Conclusion: Careful analysis of an adult with atypical signs and symptoms along with thorough review of radiological tests will facilitate early diagnosis of dangerous tumours such as GBM.

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