scholarly journals Lessons learned from a fatal case of tuberculous meningitis with a rapid decline in an infant

2022 ◽  
Vol 12 ◽  
pp. 1
Author(s):  
Heema Shah ◽  
Ashwini Joshi ◽  
Emilee Dobish ◽  
Anna Kalathil Thomas
Keyword(s):  
Tuberculous Meningitis ◽  
Endemic Area ◽  
Clinical Presentation ◽  
Fatal Case ◽  
Delayed Diagnosis ◽  
Subsequent Treatment ◽  
Lessons Learned ◽  
Rapid Decline ◽  
Imaging Features ◽  
Diagnostic Pitfalls

Tuberculous meningitis is a highly lethal, often underrecognized disease with characteristic clinical and imaging features which can be cured if the diagnosis and subsequent treatment are begun at early stages. Frequently, there is a delayed diagnosis of this condition due to unfamiliarity of clinicians in non-endemic areas about its presentation and diagnostic workup. This article presents a case of rapid decline and fatality due to tuberculous meningitis in an 11-month-old child from a non-TB-endemic area and describes the characteristic clinical presentation, imaging findings, and diagnostic pitfalls associated with this condition.

scholarly journals A case of endocarditis mimicking Crimean-Congo haemorrhagic fever

2016 ◽  
Vol 47 (1) ◽  
pp. 71-72
Author(s):  
Esra Tanyel ◽  
Mustafa Sunbul ◽  
Tom Fletcher ◽  
Hakan Leblebicioglu
Keyword(s):  
Endemic Area ◽  
Clinical Presentation ◽  
Delayed Diagnosis ◽  
Hemorrhagic Fever ◽  
Diagnostic Techniques ◽  
Viral Hemorrhagic Fever ◽  
Threatening Condition ◽  
Life Threatening ◽  
Crimean Congo Haemorrhagic Fever ◽  
Variable Clinical Presentation

Infective endocarditis (IE) is life-threatening condition with a highly variable clinical presentation. We report a case of acute IE with delayed diagnosis which resulted due to an initial misdiagnosis of Crimean Congo Hemorrhagic Fever (CCHF) in an endemic area. A case was due to Staphylococcus aureus and requiring valve replacement. They serve to emphasize the importance of careful history taking, physical examination and a broad range of different diagnostic techniques in the context of suspected viral hemorrhagic fever.

scholarly journals The Imaging Spectrum of Synovial Sarcomas: A Pictorial Review From a Single-Centre Tertiary Referral Institution

2020 ◽  
pp. 084653711989928
Author(s):  
David Jueyu Wang ◽  
Leena Alwafi ◽  
Stephany Lynn Pritchett ◽  
Bret Michael Wehrli ◽  
Alison Rosemary Isobel Spouge
Keyword(s):  
Clinical Presentation ◽  
Delayed Diagnosis ◽  
Young Patients ◽  
Soft Tissue Tumors ◽  
The Body ◽  
Imaging Features ◽  
Pictorial Review ◽  
Synovial Sarcomas ◽  
Malignant Soft Tissue

Synovial sarcomas are malignant soft-tissue tumors that typically affect young patients. They can arise from nearly anywhere in the body, most commonly the extremities, head and neck, and thorax. The imaging features are highly variable and depend on the anatomic origin. Most lesions present as large aggressive heterogeneous masses containing hemorrhagic and cystic foci, often with calcification. However, up to one-third of lesions have commonly benign features and can appear homogeneously solid or cystic. Especially in these cases, their innocuous imaging and clinical presentation can lead to delayed diagnosis. Therefore, knowledge of the imaging spectrum is crucial to ensuring adequate follow-up or timely pathologic sampling. We reviewed 30 pathologically proven cases in various anatomic sites from our institution to illustrate these characteristics.

scholarly journals Delayed diagnosis of Peutz–Jeghers syndrome due to pathological information loss or mistake in family/personal history

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Yu-Liang Jiang ◽  
Xiao-Dong Xu ◽  
Bai-Rong Li ◽  
En-Da Yu ◽  
Zi-Ye Zhao ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Novel Mutation ◽  
Delayed Diagnosis ◽  
Personal History ◽  
Pathological Examination ◽  
The Novel ◽  
Novel Mutations ◽  
The Family ◽  
Genetic Level ◽  
Peutz Jeghers Syndrome

Abstract Objective To report Peutz–Jeghers syndrome (PJS) cases with non-definitive clues in the family or personal history and finally diagnosed through pathological examination and STK11 gene mutation test. Clinical presentation and intervention PJS was suspected in 3 families with tortuous medical courses. Two of them had relatives departed due to polyposis or colon cancer without pathological results, and the other one had been diagnosed as hyperplastic polyposis before. Diagnosis of PJS was confirmed by endoscopy and repeated pathological examinations, and the STK11 mutation test finally confirmed the diagnosis at genetic level, during which 3 novel mutation were detected (536C > A, 373_374insA, 454_455insGGAGAAGCGTTTCCCAGTGTGCC). Conclusion Early diagnosis of PJS is important and may be based on a family history with selective features among family members, and the pathological information is the key. The novel mutations also expand the STK11 variant spectrum.

Prionopathies and Prionlike Protein Aberrations in Neurodegenerative Diseases

Neurographics ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 127-148
Author(s):  
K.N. Anderson ◽  
W.B. Overcast ◽  
J.R. Brosch ◽  
B.D. Graner ◽  
M.C. Veronesi
Keyword(s):  
Neurodegenerative Diseases ◽  
Protein Misfolding ◽  
Clinical Presentation ◽  
Prion Diseases ◽  
Imaging Biomarkers ◽  
Amyloid Pet ◽  
Imaging Features ◽  
Jakob Disease ◽  
The Common ◽  
Neuro Imaging

Protein misfolding has been an area of intense research and is implicated in a number of neurodegenerative diseases. Key proteins in the brain lose their native ability to fold and instead assume abnormal conformations. Misfolded proteins cluster to form pathologic aggregates, which cause cellular dysfunction, neuronal death, and neurodegeneration. The prionopathies are best known among the neurodegenerative diseases for their ability to misfold, self-propagate, and infect other organisms. There is increasing evidence of a rationale for a prionlike mechanism of spread of other neurodegenerative diseases through a similar seeding mechanism. In this review, we detail the role of a key protein aberration known to the various prion diseases, including sporadic, variant, and iatrogenic Creutzfeldt-Jakob disease; variably protease-sensitive prionopathy; Gerstmann-Straussler-Scheinker disease; fatal familial insomnia; and kuru. We also discuss the clinical presentation, the available, and emerging imaging options for these diseases. In the second part of this review, we delineate how a prionlike seeding process may be driving the progression of other neurodegenerative diseases, including Parkinson disease, Alzheimer disease, and Huntington disease. A discussion of clinical presentation and imaging features of these example diseases follows to make a case for a common approach to developing imaging biomarkers and therapies of these diseases.Learning Objective: Upon completion of this article, one should be able to describe the various types of prion diseases, recognize and identify the common the neuro-imaging findings in prion diseases, describe seeding mechanism of prion disease, list the common amyloid PET tracers used for Alzheimer’s disease, and list common imaging biomarkers in neurodegenerative diseases.

scholarly journals Clinical and Imaging Features of a Congenital Midline Cervical Cleft in a Neonate: A Rare Anomaly

2015 ◽  
Vol 2015 ◽  
pp. 1-3 ◽  
Author(s):  
Rachelle Goldfisher ◽  
Pritish Bawa ◽  
Zachary Ibrahim ◽  
John Amodio
Keyword(s):  
Congenital Anomaly ◽  
Pediatric Surgery ◽  
Clinical Presentation ◽  
Imaging Features ◽  
Rare Congenital Anomaly ◽  
Rare Anomaly ◽  
Work Up ◽  
Midline Cervical Cleft

Congenital midline cervical cleft (CMCC) is a rare congenital anomaly. CMCC and its complications and treatment have been well described in ENT, dermatology, and pediatric surgery literature. However, to our knowledge, the imaging work-up has not been reported in the literature thus far. We present a case of CMCC in a neonate with description of clinical presentation and imaging features.

Accessory Soleus Muscle

2004 ◽  
Vol 94 (6) ◽  
pp. 587-589 ◽  
Author(s):  
Tuba Karagülle Kendi ◽  
Aziz Erakar ◽  
Olcay Oktay ◽  
H. Yusuf Yildiz ◽  
Yener Saglik
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Soft Tissue ◽  
Soleus Muscle ◽  
Clinical Presentation ◽  
Imaging Features ◽  
Resonance Imaging ◽  
Tissue Mass ◽  
Anatomical Variant ◽  
Muscle Magnetic Resonance Imaging

Accessory soleus muscle is an uncommon anatomical variant that may present as a soft-tissue mass in the posteromedial region of the ankle. It is congenital in origin but usually presents in the second or third decade of life. Although it is a rare entity, accessory soleus muscle should be included in the differential diagnosis of soft-tissue swelling of the ankle. Awareness of the clinical presentation and specific findings of computed tomography, magnetic resonance imaging, and electromyography help with diagnosis without surgical exploration. We describe a 30-year-old patient with accessory soleus muscle. Magnetic resonance imaging features of the case are described, and the literature is briefly reviewed. (J Am Podiatr Med Assoc 94(6): 587–589, 2004)

scholarly journals Non-traumatic Tension Gastrothorax: A Potential Mimicker of Tension Pneumothorax

2021 ◽  
Vol 15 (8) ◽  
pp. 1-7
Author(s):  
Jonathan D. Pierce ◽  
Neal R. Shah ◽  
Ata A. Rahnemai-Azar ◽  
Amit Gupta
Keyword(s):  
Clinical Presentation ◽  
Tension Pneumothorax ◽  
Accurate Diagnosis ◽  
Imaging Features ◽  
Elderly Female ◽  
Hemodynamic Compromise ◽  
Mediastinal Shift ◽  
Increased Risk ◽  
Life Threatening ◽  
Tension Gastrothorax

Tension gastrothorax is a rare, life-threatening clinical condition caused by intrathoracic herniation of the stomach through a diaphragmatic defect which becomes increasingly distended over time. If not recognized promptly, this can rapidly progress to respiratory distress, mediastinal shift, and hemodynamic compromise. Initial clinical presentation and imaging findings closely mirror those of tension pneumothorax, confounding diagnosis and potentially leading to unnecessary interventions with increased risk of morbidity and mortality. Here, we present a case of an elderly female who presented with a non-traumatic tension gastrothorax and a review of key imaging features and strategies to aid in recognition and accurate diagnosis of this emergent clinical entity.

scholarly journals Glial Fibrillary Acidic Protein Autoimmunity: A French Cohort Study

Neurology ◽  
2021 ◽  
pp. 10.1212/WNL.0000000000013087
Author(s):  
Alice Gravier Dumonceau ◽  
Roxana Ameli ◽  
Veronique Rogemond ◽  
Anne Ruiz ◽  
Bastien Joubert ◽  
...  
Keyword(s):  
T Cell ◽  
Clinical Presentation ◽  
Age At Onset ◽  
Acidic Protein ◽  
Imaging Features ◽  
Prodromal Symptoms ◽  
Cell Dysfunction ◽  
Good Outcome ◽  
T Cell Dysfunction ◽  
French Cohort

Objectives:To report the clinical, biological, imaging features, and the clinical course of a French cohort of patients with glial fibrillar acidic protein (GFAP) autoantibodies.Methods:We retrospectively included all patients tested positive for GFAP antibodies in the cerebrospinal fluid, by immunohistochemistry and confirmed by cell-based assay using cells expressing human GFAPα, since 2017, from two French referral centers.Results:We identified 46 patients with GFAP antibodies. Median age at onset was 43 years, and 65% were men. Infectious prodromal symptoms were found in 82%. Other auto-immune diseases were found in 22% of patients, and coexisting neural autoantibodies in 11%. Tumors were present in 24%, and T cell dysfunction in 23%. The most frequent presentation was subacute meningoencephalitis (85%) with cerebellar dysfunction in 57% of cases. Other clinical presentation included myelitis (30%), visual (35%) and peripheral nervous system involvement (24%). MRI showed perivascular radial enhancement in 32%, periventricular T2 hyperintensity in 41%, brainstem involvement in 31%, leptomeningeal enhancement in 26%, and reversible splenial lesions in 4 cases. 33/40 patients had a monophasic course, associated to a good outcome at last follow-up (Rankin Score≤2: 89%), despite a severe clinical presentation. Adult and pediatric features are similar. Thirty-two patients were treated with immunotherapy. 11/22 patients showed negative conversion of GFAP antibodies.Interpretation:GFAP auto-immunity is mainly associated with acute/subacute meningoencephalomyelitis with prodromal symptoms, for which tumors and T cell dysfunction are frequent triggers. The majority of patients followed a monophasic course with a good outcome.

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