BILATERAL INGUINAL LYMPHADENOPATHY AS THE EXTRAPULMONARY PRESENTATION OF PULMONARY SARCOIDOSIS: A RARE CLINICAL PRESENTATION

Sarcoidosis is a systemic granulomatous disease of unknown etiology and pathogenesis with a heterogeneous clinical presentation. In the appropriate clinical and radiological context and with the exclusion of other diagnoses, the disease is characterized by the pathological presence of non-caseating epithelioid cell granulomas. Sarcoidosis is postulated to be a multifactorial disease caused by chronic antigenic stimulation. The immunopathogenesis of sarcoidosis encompasses a complex interaction between the host, genetic factors and postulated environmental and infectious triggers, which result in granuloma development.The exact pathogenesis of the disease has yet to be elucidated, but some of the inflammatory pathways that play a key role in disease progression and outcomes are becoming apparent, and these may form the logical basis for selecting potential biomarkers.Biomarkers are biological molecules that are altered pathologically. To date, there exists no single reliable biomarker for the evaluation of sarcoidosis, either diagnostically or prognostically but new candidates are emerging. A diagnosis of sarcoidosis ideally requires a biopsy confirming non-caseating granulomas, but the likelihood of progression that requires intervention remains unpredictable. These challenging aspects could be potentially resolved by incorporating biomarkers into clinical practice for both diagnosis and monitoring disease activity.This review outlines the current knowledge on sarcoidosis with an emphasis on pulmonary sarcoidosis, and delineates the understanding surrounding the implication of biomarkers for the clinical evaluation of sarcoidosis.

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Cardiac Sarcoidosis as an Uncommon Etiology for Posterior Circulation Stroke Presenting with Alexia without Agraphia

Case Reports in Neurological Medicine ◽

10.1155/2018/3418465 ◽

2018 ◽

Vol 2018 ◽

pp. 1-3

Author(s):

Mohankumar Kurukumbi ◽

Lauren Gardiner ◽

Shevani Sahai ◽

John W. Cochran

Keyword(s):

Case Report ◽

Early Diagnosis ◽

Cardiac Involvement ◽

Clinical Presentation ◽

Cardiac Sarcoidosis ◽

Systemic Disease ◽

Pulmonary Sarcoidosis ◽

Posterior Circulation ◽

Presenting Symptoms ◽

Memory And Recall

Sarcoidosis is a systemic disease with cardiac involvement occurring in 20-50% of cases. Cardiogenic stroke caused by cardiac sarcoidosis, especially PCA infarction, is a rare clinical presentation that necessitates timely diagnosis and may warrant treatment prophylaxis against CVA. In this case report, we describe a 54-year-old Caucasian male presenting with left PCA stroke in the setting of cardiac and pulmonary sarcoidosis, and hypertension. His presenting symptoms included right partial hemianopia, difficulty with naming, memory, and recall, and alexia without agraphia. Cardiogenic stroke is an uncommon manifestation of cardiac sarcoidosis, and given the disabling nature of these sequelae, the importance of early diagnosis and prevention with anticoagulation is crucial to prevent morbidity and mortality.

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Unusual Presentation of a Colonic Sarcoidosis

Case Reports in Medicine ◽

10.1155/2012/169760 ◽

2012 ◽

Vol 2012 ◽

pp. 1-4 ◽

Cited By ~ 2

Author(s):

Sami Daldoul ◽

Wissem Triki ◽

Kaouther El Jeri ◽

Abdeljelil Zaouche

Keyword(s):

Preoperative Diagnosis ◽

Clinical Presentation ◽

Giant Cells ◽

Right Hemicolectomy ◽

Pulmonary Sarcoidosis ◽

The Body ◽

Resected Specimen ◽

Ascending Colon ◽

Radiologic Findings ◽

Rare Location

Sarcoidosis is a multisystemic disorder of unknown cause that affects almost every tissue in the body. Colon is an extremely rare location of this disease. Clinical presentation, endoscopic appearances, and radiologic findings are not specific and may mimic much other affection. We report the case of a 64-year-old woman with inactive pulmonary sarcoidosis who presented alternating constipation and diarrhea. Colonoscopy revealed a stenotic tumor in the ascending colon. Histology failed to determine the nature of the lesion. Radiologic findings are those of a long stenotic tumor of the ascending colon associated with a multiple satellite lymphadenopathy. Endoscopic and radiologic descriptions are highly suggestive of a malignancy. The patient underwent a laparotomy, and a right hemicolectomy was performed. Examination of the resected specimen showed follicular structure with central epitheloid and giant cells and surrounding fibroblasts. These findings made the diagnosis of colonic sarcoidosis. The nonspecificity of the endoscopic and radiological signs of gastrointestinal sarcoidosis and the extreme rarity of colonic location make the preoperative diagnosis unlikely. The diagnosis will be then made only on histological examination of surgical specimens. We describe, through this observation, the results of paraclinical investigations that can suggest diagnosis and perhaps avoid surgery.

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Recurrence of sarcoidosis after lung transplantation presenting as neurosarcoidosis

Neurology Clinical Practice ◽

10.1212/cpj.0000000000000980 ◽

2020 ◽

pp. 10.1212/CPJ.0000000000000980

Author(s):

Robert Case ◽

Ramon Valentin ◽

Aaron Carlson ◽

Diana Gomez ◽

Hassan Alnauimat ◽

...

Keyword(s):

Lung Transplantation ◽

Clinical Presentation ◽

Subsequent Development ◽

Pulmonary Sarcoidosis ◽

Steroid Treatment ◽

Acute Encephalopathy ◽

Mri Imaging ◽

Mri Findings ◽

Treatment Support ◽

Is Development

Recurrence of pulmonary sarcoidosis after transplantation of the lung is known to occur and has not been shown to lead to negative outcomes. However, recurrence in a new primary organ is incredibly rare and not an established pattern of clinical presentation. Neurosarcoidosis can present in a variety of ways, one of which is development of acute encephalopathy and diffuse leptomeningeal enhancement on MRI imaging. In the case we present, the MRI findings, the improvement of symptoms and imaging abnormalities with steroid treatment support a diagnosis of probable neurosarcoidosis. Since a minority of patients who undergo lung transplantation have sarcoidosis, it is possible that subsequent development of neurosarcoidosis may be under recognized.

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Overlap Syndromes in Sarcoidosis: Clinical Features and Outcomes

Seminars in Respiratory and Critical Care Medicine ◽

10.1055/s-0040-1713008 ◽

2020 ◽

Vol 41 (05) ◽

pp. 607-617

Author(s):

W. Ennis James

Keyword(s):

Clinical Features ◽

Clinical Presentation ◽

Delayed Diagnosis ◽

Diagnostic Errors ◽

Granulomatous Inflammation ◽

Pulmonary Sarcoidosis ◽

Clinical Findings ◽

Diagnostic Biomarker ◽

Overlap Syndromes ◽

Disease Outcomes

AbstractSarcoidosis is a multisystem inflammatory disease characterized by noncaseating granulomatous inflammation. While pulmonary sarcoidosis is most common, extrapulmonary involvement occurs in 50 to 74% of patients and can be the presenting abnormality in some patients. The diagnosis of sarcoidosis is based on a compatible clinical presentation in combination with granulomas on histology and exclusion of other causes. However, the absence of a diagnostic biomarker for sarcoidosis, in addition to the overlap of granulomatous inflammation and nonspecific clinical findings with other diseases, often results in a delayed diagnosis. Sarcoidosis overlap syndromes are typically described when sarcoidosis is diagnosed in the presence of another disease (concurrently or sequentially) with shared clinical and histologic features, or when sarcoidosis presents with clinical features typically observed in, but not diagnostic of, other diseases. Awareness of overlap syndromes is important for clinicians to avoid diagnostic errors and evaluate for concomitant diagnoses that may impact the management and outcome of sarcoidosis. This article is intended to provide an overview of these presentations and the most commonly associated diseases, with attention to their prevalence, clinical features, and reciprocal impacts on disease outcomes.

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298 Neurosarcoidosis – review of 91 patients from three UK neuroscience centres

Journal of Neurology Neurosurgery & Psychiatry ◽

10.1136/jnnp-2018-abn.162 ◽

2018 ◽

Vol 89 (10) ◽

pp. A47.3-A47

Author(s):

Farwana Reem ◽

Murley Alex ◽

Ankrah Lauren ◽

Whittam Dan ◽

Hayton Tom ◽

...

Keyword(s):

Clinical Presentation ◽

Pulmonary Sarcoidosis ◽

Brain Parenchyma ◽

Limb Weakness ◽

Pooled Data ◽

Retrospective Audit ◽

Clinical Presentations ◽

Radiological Changes ◽

The Brain ◽

Over 40 Years

BackgroundNeurosarcoidosis is a rare neuro-inflammatory disease with a wide variety of clinical presentations.MethodsRetrospective audit was conducted independently at Birmingham, Liverpool and Nottingham to identify patients with neurosarcoidosis and pooled data was analysed.Results88% of the 91 patients identified presented over 40 years of age. From the data available, 70% were White Caucasians, 21% Afro-Caribbeans and 8% were Asians. Optic neuritis (31%), limb weakness (30%), headaches (20%) and facial palsy (19%) were the most common clinical presentations with nearly a third of patients (27/91) having moderate or severe disability (modified Rankin scale ≥3) at onset. 27/58 (46.6%) of patients had raised serum ACE levels and 37/44 (84%) patients had raised CSF protein with 28/41 (68.3%) demonstrating CSF lymphocytosis (mean – 54, range 5 to 380 cells). 35/91 patients had radiological changes affecting the brain parenchyma with 23% showing leptomeningeal enhancement. 75% of the 36 patients with data available for CT chest showed evidence of pulmonary sarcoidosis. Steroids were administered in 84.9% (73/86) patients with 21 receiving steroid sparing drugs, mainly Azathioprine and Mycophenolate.ConclusionWe discuss the varied clinical presentation of neurosarcoidosis across three major UK neuroscience centres and attempt to risk stratify patients prior to immunomodulatory therapy.

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Jansky-Bielschowsky syndrome, a lysosomal disease: First diagnosed cash in Oman

Proceedings, annual meeting, Electron Microscopy Society of America ◽

10.1017/s0424820100123568 ◽

1992 ◽

Vol 50 (1) ◽

pp. 632-633

Author(s):

Line Buhl ◽

David Muirhead

Keyword(s):

Mental Retardation ◽

Clinical Picture ◽

Neurological Disorder ◽

Clinical Presentation ◽

Neuronal Ceroid Lipofuscinosis ◽

Infantile Form ◽

Lysosomal Disease ◽

Juvenile Form ◽

Progressive Encephalopathy ◽

Lysosomal Diseases

There are four lysosomal diseases of which the neuronal ceroid lipofuscinosis is the rarest. The clinical presentation and their characteric abnormal ultrastructure subdivide them into four types. These are known as the Infantile form (Santavuori-Haltia), Late infantile form (Jansky-Bielschowsky), Juvenile form (Batten-Spielmeyer-Voght) and the Adult form (Kuph's).An 8 year old Omani girl presented wth myclonic jerks since the age of 4 years, with progressive encephalopathy, mental retardation, ataxia and loss of vision. An ophthalmoscopy was performed followed by rectal suction biopsies (fig. 1). A previous sibling had died of an undiagnosed neurological disorder with a similar clinical picture.

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An Overview of Dementias

Perspectives on Swallowing and Swallowing Disorders (Dysphagia) ◽

10.1044/sasd21.3.75 ◽

2012 ◽

Vol 21 (3) ◽

pp. 75-84

Author(s):

Venkata Vijaya K. Dalai ◽

Jason E. Childress ◽

Paul E Schulz

Keyword(s):

Clinical Presentation ◽

Treatment Options ◽

Current Treatment ◽

Great Variability ◽

Health Concern ◽

Public Health Concern ◽

Life Threatening ◽

The Common ◽

Neurodegenerative Dementias ◽

Made In

Dementia is a major public health concern that afflicts an estimated 24.3 million people worldwide. Great strides are being made in order to better diagnose, prevent, and treat these disorders. Dementia is associated with multiple complications, some of which can be life-threatening, such as dysphagia. There is great variability between dementias in terms of when dysphagia and other swallowing disorders occur. In order to prepare the reader for the other articles in this publication discussing swallowing issues in depth, the authors of this article will provide a brief overview of the prevalence, risk factors, pathogenesis, clinical presentation, diagnosis, current treatment options, and implications for eating for the common forms of neurodegenerative dementias.

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