scholarly journals A Case Presentation of a Diagnostic Dilemma. An Atypical Presentation of a Rare Disease, Cardiac Sarcoidosis

2016 ◽  
Vol 25 ◽  
pp. S208-S209
Author(s):  
E. Nehme ◽  
J. Riskallah ◽  
D. Burgess ◽  
A. Kanthan
Keyword(s):  
Rare Disease ◽  
Cardiac Sarcoidosis ◽  
Atypical Presentation ◽  
Diagnostic Dilemma ◽  
Case Presentation

scholarly journals Uncommon manifestations of a rare disease: a case of autoimmune GFAP astrocytopathy

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Hong Di ◽  
Yue Yin ◽  
Ruxuan Chen ◽  
Yun Zhang ◽  
Jun Ni ◽  
...  
Keyword(s):  
Rare Disease ◽  
Hormone Secretion ◽  
White Matter Lesions ◽  
Signs And Symptoms ◽  
Careful Examination ◽  
Case Presentation ◽  
Inappropriate Antidiuretic Hormone Secretion ◽  
Contrast Enhanced ◽  
The Central Nervous System ◽  
Magnetic Resonance Imaging Mri

Abstract Background Manifestations of intractable hyponatremia and hypokalemia in autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy have been rarely reported. Case presentation A 75-year-old male patient presented as the case of syndrome of inappropriate antidiuretic hormone secretion (SIADH) and intractable hypokalemia, showed fever, fatigue, and mental disorders. Signs and symptoms of meningoencephalitis, ataxia, and cognitive abnormalities. Magnetic resonance imaging (MRI) revealed multiple white matter lesions of the central nervous system. He had GFAP-IgG in the cerebrospinal fluid (CSF). After treatment with corticosteroids, his symptoms were alleviated gradually, and the level of electrolytes was normal. However, head contrast-enhanced MRI + susceptibility-weighted imaging (SWI) showed a wide afflicted region, and the serum GFAP-IgG turned positive. Considering the relapse of the disease, ha was treated with immunoglobulin and mycophenolate mofetil (MMF) to stabilize his condition. Conclusion This case showed a rare disease with uncommon manifestations, suggesting that careful examination and timely diagnosis are essential for disease management and satisfactory prognosis.

scholarly journals Episodic headache with spontaneous hypothermia reveal Shapiro’s syndrome variant with effectiveness of clonidine therapy

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Mickael Aubignat ◽  
Melissa Tir ◽  
Pierre Krystkowiak ◽  
Daniela Andriuta
Keyword(s):  
Parkinson’S Disease ◽  
Rare Disease ◽  
Rare Case ◽  
Motor Fluctuation ◽  
International Classification ◽  
Headache Disorders ◽  
Case Presentation ◽  
Episodic Headache ◽  
Triggering Factor

Abstract Background Episodic headache with spontaneous hypothermia constitute an uncommon association and is not well recognized in the International Classification of Headache Disorders (ICHD-3). Spontaneous periodic hypothermia, also called Shapiro’s syndrome, is a rare disease characterized by hypothermia attacks associated or not with hyperhidrosis without any triggering factor. Case presentation We report a rare case of Shapiro’s syndrome variantrevealed by episodes of headache with spontaneous hypothermia witheffectiveness of clonidine therapy in a 76-year-old Parkinson’s disease woman. Conclusions In the literature, apart from Shapiro’s syndrome, headache withhypothermia seem to occur very rarely. In our case,these symptoms may be considered as a very rare non-motor fluctuation ofParkinson’s disease.

A diagnostic dilemma: endodontic lesion or odontogenic keratocyst? A case presentation

2008 ◽  
Vol 41 (9) ◽  
pp. 800-806 ◽  
Author(s):  
R. Pace ◽  
F. Cairo ◽  
V. Giuliani ◽  
L. P. Prato ◽  
G. Pagavino
Keyword(s):  
Odontogenic Keratocyst ◽  
Diagnostic Dilemma ◽  
Case Presentation

scholarly journals Human pulmonary dirofilariasis: atypical presentation of a rare disease

2006 ◽  
Vol 39 (1) ◽  
pp. 94-95 ◽  
Author(s):  
Ricardo Jorge Vital ◽  
Leandro Accardo de Mattos ◽  
Gustavo Souza Portes Meirelles
Keyword(s):  
Rare Disease ◽  
Atypical Presentation ◽  
Pulmonary Dirofilariasis

A Case Report on the Surgical Management of Subhepatic Perforated Appendicitis: A Rare Presentation

2020 ◽  
Author(s):  
Mumin Hakim ◽  
Rania Mostafa ◽  
Mohammed Al Shehri ◽  
Sherif Sharawy
Keyword(s):  
Case Report ◽  
Acute Appendicitis ◽  
Female Patient ◽  
Surgical Management ◽  
Perforated Appendicitis ◽  
Exploratory Laparotomy ◽  
Atypical Presentation ◽  
Review Of Literature ◽  
Rare Presentation ◽  
Case Presentation

Abstract Background: Subhepatic appendicitis is an exceedingly rare presentation accounting for 0.01% of Acute appendicitis. It is of prime importance to be aware of various variants and thereby managing such challenging cases accordingly.Case presentation: We present a middle-aged female patient with subhepatic perforated appendicitis and peritonitis who underwent an exploratory laparotomy and appendectomy.Conclusions: Surgical management of such patients is challenging due to an atypical presentation. The surgical management of such patients is discussed with a brief review of literature.

scholarly journals Osteosarcoma: A Case Report

2007 ◽  
Vol 01 (01) ◽  
pp. 060-063 ◽  
Author(s):  
Esra Yeşilovaa ◽  
Faruk Akgünlü ◽  
Doğan Dolanmazc ◽  
Füsun Yaşar ◽  
Sevgi Şenere
Keyword(s):  
Case Report ◽  
Head And Neck ◽  
Rare Disease ◽  
Bone Tumor ◽  
Orofacial Pain ◽  
Management Plan ◽  
Malignant Bone Tumor ◽  
Case Presentation ◽  
Diagnosis And Prognosis ◽  
Oral Malignancies

ABSTRACTAlthough osteosarcoma of the head and neck is a relatively rare disease, it is a highly malignant bone tumor. Diagnosis of the tumor is important especially in early stages for improving prognosis. The patients with orofacial pain firstly prefer to go to dentists. Such kind of pain may be associated with an oral or maxillofacial cancer. The dentists must be careful for evaluating the clinical and radiologic clues. These clues determine the biopsy necessity, type and management plan. The aim of this case presentation is to emphasize the importance of dentists on diagnosis and prognosis of oral malignancies. (Eur J Dent 2007;1:60-63)

AN ATYPICAL PRESENTATION OF CARDIAC SARCOIDOSIS

2018 ◽  
Vol 71 (11) ◽  
pp. A2252
Author(s):  
Adam Horblitt ◽  
Anna Koulova ◽  
George Jolly ◽  
Tonusri Nag ◽  
Shashvat Gupta ◽  
...  
Keyword(s):  
Cardiac Sarcoidosis ◽  
Atypical Presentation

scholarly journals HELLP syndrome, a difficult diagnosis: a case report

2019 ◽  
Vol 8 (4) ◽  
pp. 1686
Author(s):  
Shweta Pradhan ◽  
Somen Bhattacharjee
Keyword(s):  
Case Report ◽  
Hellp Syndrome ◽  
Liver Enzymes ◽  
Severe Thrombocytopenia ◽  
Atypical Presentation ◽  
Third Trimester ◽  
Diagnostic Dilemma ◽  
Present Case Report ◽  
Elevated Liver Enzymes ◽  
Low Platelet Count

HELLP is an acronym that refers to a syndrome characterized by Haemolysis with a microangiopathic blood smear, Elevated Liver enzymes, and a Low Platelet count.  Recent studies suggested that some women will develop HELLP without the manifestations of classical symptoms. Authors present the case of a 22-year-old normotensive primigravida who went into severe thrombocytopenia and haemolysis leading to DIC, finally the diagnosis of normotensive HELLP syndrome was made. Present case report attempts to illustrate the diagnostic dilemma that a clinician faces in diagnosing an atypical presentation of HELLP syndrome. Management of jaundice during pregnancy especially in third trimester remains a dilemma for the obstetrician because of its varied aetiology, unpredictable prognosis and guarded perinatal outcome. Authors therefore recommend a rational stepwise approach toward the diagnosis of HELLP syndrome and its atypical presentation.

scholarly journals Eosinophilic fasciitis: an atypical presentation of a rare disease

2019 ◽  
Vol 65 (3) ◽  
pp. 326-329
Author(s):  
Catia Cabral ◽  
António Novais ◽  
David Araujo ◽  
Ana Mosca ◽  
Ana Lages ◽  
...  
Keyword(s):  
Rare Disease ◽  
Rare Case ◽  
Unknown Etiology ◽  
Eosinophilic Fasciitis ◽  
Atypical Presentation ◽  
Peripheral Eosinophilia ◽  
First Line ◽  
Erythrocyte Sedimentation ◽  
High Doses ◽  
High Erythrocyte Sedimentation Rate

SUMMARY Eosinophilic fasciitis, or Shulman's disease, is a rare disease of unknown etiology. It is characterized by peripheral eosinophilia, hypergammaglobulinemia, and high erythrocyte sedimentation rate. The diagnosis is confirmed by a deep biopsy of the skin. The first line of treatment is corticotherapy. We present a rare case of eosinophilic fasciitis in a 27-year-old woman with an atypical presentation with symmetrical peripheral edema and a Groove sign. The patient responded well to treatment with corticosteroids at high doses and, in this context, was associated with hydroxychloroquine and azathioprine. After two and a half years, peripheral eosinophilia had increased, and more of her skin had hardened. At that time, the therapy was modified to include corticoids, methotrexate, and penicillamine. It is of great importance to publicize these cases that allow us to gather experience and better treat our patients.

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