Atypical Presentation Of Disease Research Articles

Stroke as an atypical initial presentation of giant cell arteritis

BackgroundGiant cell arteritis (GCA) is an immune mediated inflammatory disease of medium and large arteries which afflicts older people. The classical presentation features include: headache, visual disturbances, and jaw claudication. Patients diagnosed with GCA have also been observed to be at higher risk for the subsequent development of strokes.Case presentationWe describe a case of an 84-year old right-handed man who presented to hospital with dysarthria, dysphagia, right-sided facial drop, a history of generalized weakness and multiple falls. He was admitted to geriatric medicine with the working diagnosis of a posterior circulation stroke syndrome. He was also started on antibiotic treatment for a possible community-acquired pneumonia because of the presence of a low-grade fever and a chest radiograph showing ill-defined left lower lobe airspace disease. Initial lab results were remarkable for an erythrocyte sedimentation rate (ESR) of 112 mm/h and a C-reactive protein (CRP) level of 110 mg/L consistent with an active inflammatory state. Neurovascular imaging showed mild atherosclerotic changes of the aortic arch and proximal great vessels without significant stenosis. The patient was started on daily high-dose prednisone because of the possibility of a cerebral vasculitis. Bilateral biopsy of temporal arteries showed giant cell arteritis. The patient’s neurologic status and inflammatory markers significantly improved (ESR 52 mm/h, CRP 7.0 mg/L) and he was eventually discharged to a seniors home with services.ConclusionThe initial presentation of giant cell arteritis as a stroke syndrome, especially in the posterior circulation territory, is exceedingly rare. Other atypical presenting symptoms may include chronic cough and fever of unknown origin. The elevated ESR and CRP levels were clues to the diagnosis and clinical decision-making should be driven by a high index of suspicion since no single test (ESR, CRP, temporal artery biopsy) has perfect sensitivity. Elevated CRP may have a role in increasing stroke risk. This case report illustrates that in older people clinicians must consider atypical presentations of disease more often since timely diagnosis and initiation of treatment can result in optimal outcomes.

Encephalotrigeminal angiomatosis: an atypical presentation of a rare disease

Encephalotrigeminal angiomatosis also called as Sturge Weber Syndrome (SWS) is a sporadically occurring rare congenital neuro cutaneous disorder. Unilateral facial portwine stain along with contralateral focal seizures and ipsilateral leptomeningeal angiomatosis is considered as diagnostic of Sturge Weber Syndrome. Capillary malformation along the ophthalmic and maxillary divisions of the trigeminal nerve is common in this condition. MRI with contrast is the imaging modality of choice for the diagnosis. The current report describes a case of a 9-month-old infant with atypical presentation of Type 1 Encephalo-trigeminal angiomatosis with complications. The clinicopathological and radiographic features and differential diagnosis are discussed.

Erdheim-Chester disease: atypical presentation of a rare disease

We report the clinical case of an adult patient referred to our hospital because of trismus due to a tumour in the right infratemporal and pterygomaxillary fossa. He referred hyporexia,...

Atypical presentation of celiac disease in paediatric patients: Clinical rationale of the screening in individuals with chronic constipation

Background and objective: The prevalence of Celiac Disease (CD) within the general population is between 0.5% and 1% in most Countries. The frequency of CD in children is subject of little research. We aim to determine the prevalence of CD in paediatric patients presenting chronic constipation and to study the frequency of some related atypical symptoms.

Caroli's Disease as a Cause of Chronic Epigastric Abdominal Pain: Two Case Reports and a Brief Review of the Literature.

Caroli's disease is a very rare congenital malformation, currently included in cystic diseases of the biliary tract, and is characterized by ectasia and dilatation of the intrahepatic bile ducts. Two clinical entities can be distinguished, Caroli's disease in which congenital hepatic impairment is limited to cystic dilatation and Caroli's syndrome in which congenital hepatic fibrosis coexists. We present two cases of atypical presentations of Caroli's disease. Case one was a 76-year-old man who was referred to our hospital for chronic non-remitting epigastric pain prior to diagnosis. Magnetic resonance cholangiopancreatography (MRCP) was performed, which revealed findings consistent with Caroli’s disease. Laboratory investigation disclosed a raised α-fetoprotein. Left hepatectomy was performed due to suspected cholangiocarcinoma. Morphological findings were compatible with Caroli’s disease and no evidence of malignancy was found. Case two was a 47-year-old man who presented with chronic epigastric pain and generalized abdominal discomfort. MRCP revealed findings compatible with Caroli’s disease. The patient was discharged with ursodeoxycholic acid treatment and was later admitted twice due to inaugural episodes of cholangitis that were medically managed. Bisegmentectomies II and III were performed for suspected neoplasia after a gradual rise in α-fetoprotein and CA19-9 values were noted during follow-up. The surgical specimen confirmed Caroli’s disease and there was no evidence of malignancy. Postoperative periods for both patients were favorable, and they remain asymptomatic and well to date.

A curious case of growth failure and hypercalcemia: Answers.

Sarcoidosis is a multisystem granulomatous disease of unknown etiology that rarely presents in childhood. Here, we report a case of pediatric sarcoidosis, presenting with renal failure and hypercalcemia. A previously well 14-year-old Caucasian boy was admitted to the Hospital for Sick Children, Canada, for hypertension and renal failure following work-up by his family physician for initial concerns of growth failure. On admission, his weight was 35 kg (<3rd percentile), his height was 148 cm (<<3rd percentile), and his blood pressure was 154/116 mmHg (>99th percentile for height). Laboratory findings showed elevated creatinine (218 umol/L), hypercalcemia (3.21 mmol/L), and normocytic anemia (hemoglobin 105 g/L). His further assessment showed a urinary concentrating defect with hypercalciuria (calcium/creatinine 1.76 mmol/mmol) and nephrocalcinosis on ultrasound. His eye examination showed uveitis with conjunctival biopsy remarkable for granulomas, which led to pursuit of a diagnosis of possible sarcoidosis. Angiotensin Angiotensin-converting enzyme was found to be high at 96 U/L, and he had a renal biopsy that was consistent with interstitial nephritis with granulomas. Treatment was started with prednisone leading to resolution of his hypercalcemia but persistence of his mild chronic kidney disease. This case represents an atypical presentation of a rare pediatric disease and highlights the spectrum of renal manifestations and treatment options in sarcoidosis.

An atypical presentation and diagnostic dilemma of sickle cell disease

A 5½ year old male child of a consanguineous couple presented with moderately high fever, hepatosplenomegaly and severe pain in the left upper quadrant of the abdomen for four days. On examination, the child was found severely anemic, ill-looking and mildly icteric but the abdomen was soft and non-tender. Radiological investigations and ultrasonography of the whole abdomen revealed the diagnosis of space occupying lesions which may be either due to splenic abscess/cyst or leukemia/lymphoma. However, blood film revealed the features of hereditary hemolytic anemia and later on hemoglobin electrophoresis initially commented as HbS–beta thalassemia but subsequent family screening of the patient turned out to a case of homozygous sickle cell anemia or sickle cell disease. To resolve such diagnostic dilemma, it is very much essential to analyze critically the history including family history, clinical and physical findings as well as investigational findings.

Anti-Glomerular Basement Membrane Disease.

Anti-glomerular basement membrane (anti-GBM) disease is a rare small vessel vasculitis that affects the capillary beds of the kidneys and lungs. It is an archetypic autoimmune disease, caused by the development of directly pathogenic autoantibodies targeting a well characterized autoantigen expressed in the basement membranes of these organs, although the inciting events that induce the autoimmune response are not fully understood. The recent confirmation of spatial and temporal clustering of cases suggests that environmental factors, including infection, may trigger disease in genetically susceptible individuals. The majority of patients develop widespread glomerular crescent formation, presenting with features of rapidly progressive GN, and 40%-60% will have concurrent alveolar hemorrhage. Treatment aims to rapidly remove pathogenic autoantibody, typically with the use of plasma exchange, along with steroids and cytotoxic therapy to prevent ongoing autoantibody production and tissue inflammation. Retrospective cohort studies suggest that when this combination of treatment is started early, the majority of patients will have good renal outcome, although presentation with oligoanuria, a high proportion of glomerular crescents, or kidney failure requiring dialysis augur badly for renal prognosis. Relapse and recurrent disease after kidney transplantation are both uncommon, although de novo anti-GBM disease after transplantation for Alport syndrome is a recognized phenomenon. Copresentation with other kidney diseases such as ANCA-associated vasculitis and membranous nephropathy seems to occur at a higher frequency than would be expected by chance alone, and in addition atypical presentations of anti-GBM disease are increasingly reported. These observations highlight the need for future work to further delineate the immunopathogenic mechanisms of anti-GBM disease, and how to better refine and improve treatments, particularly for patients presenting with adverse prognostic factors.

Intravascular large B-cell lymphoma as a cause of terminal acute respiratory distress syndrome: atypical presentation of a rare disease.

Intravascular large B-cell lymphoma as a cause of terminal acute respiratory distress syndrome: atypical presentation of a rare disease.

Bibrachial plegia due to Lyme radiculopoliomyelitis-myelitis

Nervous system involvement occurs in up to 15% of patients with Lyme disease, most commonly manifested as cranial neuropathy, lymphocytic meningitis, and or radiculoneuritis. We describe a patient with subacute radiculopoliomyelitis-myelitis matching the selective involvement of the anterior horns and roots of the cervical spinal cord seen on MRI and on electrodiagnostic studies. We demonstrate positive CSF Lyme antibodies and document a near-complete recovery with antibiotics. This case highlights the importance of recognizing an atypical presentation of Lyme disease in the setting of initial radiculitis and or myelitis, particularly given the potential for favorable outcomes with appropriate treatment.

Atypical presentation of sickle cell disease

A 20 year old female presented with a history of frequent syncopal attack since her childhood. Each episode persisted 5-10 min without having any aggravating factor or prodrome. She had persistent generalized bodyache aggravating during the winter. She had jaundice and episodic abdominal pain. She received 1 unit of blood transfusion 4 months back and improved sympto-matically. Patient was mildly anemic, moderately icteric and had mild splenomegaly. Over these long periods of her illness she was thoroughly evaluated several times. Her biochemical and neurological evaluation revealed no abnormalities. But she was treated with anticonvulsant for long time empirically without significant improvement. Her CBC showed microcytic hypochromic anemia. She was negative for Wilson’s disease. Reticulocyte count was high. Coomb’s test was negative. Osmotic fragility test was positive. Hemoglobin electrophoresis revealed Hb-S 60%. Sickling test was found positive. Finally it was diagnosed as a case of HbS/?+.

Cerebral hydatid disease: Is it primary or secondary?

Hydatid disease is a serious medical problem in Mediterranean and particularly among sheep farming countries, caused by larval stages of dog tapeworms belonging to the genus Echinococcus . Hydatid cysts may affect every organ in the human body; however, multiple organ involvement (spleen, adrenal gland, heart, pericardium, intravascular growth of hydatids and brain) without affecting the two major filters in the body liver and the lung was very rare. In this case, myocardial hydatid cyst is considered as primary and involvement of other organs such as brain, spleen, adrenal glands, and vascular involvement are considered as secondary involvement due to the rupture of hydatid in heart. Rarity of this atypical presentation of hydatid disease leads to this case report.

Atypical presentation of Paget's disease with secondary osteomyelitis of mandible

Paget's disease (PD) is a chronic progressive disease of the bone characterized by abnormal bone resorption and deposition affecting either single bone (monostotic) or many bones (polyostotic). The precise etiology of the disease is unknown but it is likely that the disease is a result of a viral infection of the osteoclasts in a genetically susceptible host. It is inherited as an autosomal dominant trait with high penetrance. The patients affected are usually over forty years of age, and disease is often asymptomatic. The diagnosis is mainly based on biochemical markers of bone turnover and radiological examinations. Normal levels of calcium phosphates and markedly elevated serum alkaline phosphatase (SAP) is a constant feature of this disease. It is regarded as uncommon in Asians, Scandinavians, and black Africans. In India, Paget's disease is rare. Here, we report a rare case of PD with secondary osteomyelitis of mandible with biochemical, radiological, and dual X-ray absortiometry findings. The patient is currently undergoing treatment successfully using bisphosphonates (Alendronate), an anti-resorptive drug to decrease the morbidity associated with the disease.

Atypical Presentation of IgG4-Related Disease of the Eyelid

Atypical Presentation of IgG4-Related Disease of the Eyelid

Common and divergent neural correlates of anomia in amnestic and logopenic presentations of Alzheimer's disease

The majority of logopenic variant primary progressive aphasia (lv-PPA) cases harbour Alzheimer pathology, suggesting that lv-PPA constitutes an atypical presentation of Alzheimer's disease (AD). However, even if caused by Alzheimer pathology, the clinical manifestations of lv-PPA differ from those observed in the typical or amnestic AD presentation: in lv-PPA, aphasia is the main feature while amnestic AD is characterised by impaired episodic memory. Anomia or impaired naming, however, is present in both AD presentations. Whether these presentations share anatomical and mechanistic processes of anomia has not been fully investigated. Accordingly, we studied naming performance and its relationship with regions of brain atrophy in 23 amnestic AD and 22 lv-PPA cases with presumed underlying Alzheimer pathology. Both AD groups displayed some degree of anomia and impaired word comprehension but these were particularly severe in lv-PPA and accompanied by a range of linguistic deficits, comprising phonological substitutions, superordinate semantic paraphasias and abnormal single-word repetition. Analysis of cortical thickness revealed that anomia was correlated with thinning in left superior temporal gyrus in both groups. In amnestic AD, however, anomia was also associated with thinning in right inferior temporal regions. Single-word comprehension (SWC), by contrast, was associated with cortical thinning involving bilateral fusiform gyri in both groups. These findings suggest that anomia in both amnestic AD and lv-PPA results from the involvement at multiple steps of word processing, in particular, semantic and lexical retrieval; in addition lv-PPA patients display a more marked involvement of phonological processing.

Atypical Presentation of Celiac Disease

Case Presentation: A 60 year old women with a medical history of Hepatitic C Virus with sustained virologic response following treatment presents with a rash on her legs and lower back and pain/numbness in her feet. The pain in her feet was described as a burning pain with associated numbness which had resulted in multiple falls. The rash was characterized by pruritic grouped vesicles which appeared excoriated from scratching. She was prescribed triamcinolone cream for her rash and gabapentin to help alleviate her neuropathic pain, neither of which helped. She was then referred to neurology, who recommended electromyogram (EMG) as well as multiple serum studies. Results of EMG revealed electrophysiologic evidence of a length dependent sensorimotor polyneuropathy. Furthermore, serum studies were significant for a celiac panel with results below (table 1). Following these results, she was referred to gastroenterology for endoscopy with duodenal biopsies. Endoscopy showed denuded duodenal folds. Duodenal biopsies showed focal increased numbers of intraepithelial lymphocytes, confirming diagnosis of celiac disease. Discussion: Celiac disease is a common cause of malabsorption with an estimated incidence in the United States of 1 in 113. The disease has two components: Environmental exposure to gliadin and subsequent immune response. The gliadin component of gluten is found in foods such as wheat, barley and rye. Following exposure, there is an innate immune response in which intestinal epithelial cells are altered in the absence of CD4+ T cell activation. Production of anti-gliadin antibodies via adaptive immunity then results in further intestinal epithelial cell damage. Classically, patients with celiac disease present with abdominal pain and diarrhea. Patients who present with other symptoms are said to have atypical celiac disease. Of patients who present with atypical celiac disease with neurologic symptoms, ataxia is the most common. Improvement can be seen after starting gluten-free diet.2 Other atypical symptoms secondary to malabsorption include anemia, osteopenia, and infertility. Although history, physical exam, and serology are helpful in diagnosing celiac disease, confirmation should be done via endoscopy with duodenal biopsies. Biopsies reveal lymphocytic infiltration of intestinal epithelium with villous atrophy. If present, skin biopsies of dermatitis herpetiformis can take the place of duodenal biopsies for confirmation.Table 1: Celiac PanelFigure 1

Hypersensitivity Eosinophilic Myocarditis in a Patient Receiving Multiple Drug Therapy: Challenges in Diagnosis and Defining the Aetiology

Eosinophilic myocarditis (EM) is a rare and potentially fatal disease if left untreated. Because the disease can have a delayed presentation and can appear even after 2 years, its underlying causes often remain unknown. We report the case of a 63-year-old man with an atypical clinical presentation of hypersensitive EM and significant coronary artery disease, which was confirmed through coronary angiography. The patient was treated with hydrochlorothiazide (12.5 mg once daily for 2 years) and budesonide/formoterol (160/4.5 µg once daily for 2 years). Amoxicillin/clavulanic acid (1000/200 mg three times daily for 2 days) and azithromycin (500 mg once daily for 2 days) were used to treat pneumonia, while ibuprofen (600 mg three times daily for 2 days) was used to treat pericarditis. Extremely high levels of eosinophils led to clinical suspicion of non-acute coronary syndrome as the cause of chest pain and myocardial necrosis. In addition, early pulse doses of methylprednisolone (500 mg intravenously once daily) were administered. Complete clinical recovery and a fast decrease in eosinophils and troponin levels were observed after a few hours on the same day. No signs of recurrent myocarditis were noticed after 3 days of administering the same pulse doses of methylprednisolone, which was then replaced by oral methylprednisolone administered for the next 2 months (step-down regimen, starting from 64 mg/day). Despite causality assessment being difficult, prompt therapy must be given as soon as possible to prevent fatal outcomes. Delayed corticosteroid treatment, which is necessary regardless of the underlying cause, can result in heart failure and death.

Ebola Virus Replication and Disease Without Immunopathology in Mice Expressing Transgenes to Support Human Myeloid and Lymphoid Cell Engraftment.

The study of Ebola virus (EBOV) pathogenesis in vivo has been limited to nonhuman primate models or use of an adapted virus to cause disease in rodent models. Herein we describe wild-type EBOV (Makona variant) infection of mice engrafted with human hematopoietic CD34+ stem cells (Hu-NSG™-SGM3 mice; hereafter referred to as SGM3 HuMice). SGM3 HuMice support increased development of myeloid immune cells, which are primary EBOV targets. In SGM3 HuMice, EBOV replicated to high levels, and disease was observed following either intraperitoneal or intramuscular inoculation. Despite the high levels of viral antigen and inflammatory cell infiltration in the liver, the characteristic histopathology of Ebola virus disease was not observed, and this absence of severe immunopathology may have contributed to the recovery and survival of some of the animals. Future investigations into the underlying mechanisms of the atypical disease presentation in SGM3 HuMice will provide additional insights into the immunopathogenesis of severe EBOV disease.

Inaccurate or delayed diagnosis of hollow organ perforation by emergency physicians: using a qualitative approach to identify the causes.

Mistakes or delays in the diagnosis of hollow organ perforation may be detrimental to prognosis. Nonetheless, emergency physicians (EPs) are prone to misdiagnosing this condition in specific scenarios. The factors leading to errors in their cognitive processes, however, have received little attention. Using a qualitative approach, we conducted in-depth semi-structured interviews with EPs in the emergency departments (EDs) of three hospitals in Taiwan. We purposively selected participants to obtain a sample that can contribute essential information about the diagnostic process. Sampling continued until new information was no longer being gathered. All interviews were audio-recorded, transcribed verbatim, and then analyzed by two investigators according to grounded theory. Based on 23 cases from 20 EPs, four themes emerged from the analysis regarding the reasons for diagnostic errors: (1) atypical disease presentations (6/23; 26%), (2) cognitive process of the physicians (21/23; 91%), (3) systemic factors (14/23; 61%), and (4) composite factors (14/23; 61%). These findings provide valuable insight into the factors that contribute to diagnostic error in cases of abdominal hollow organ perforation. The results offer a basis on which to build a framework for teaching physicians how to avoid misdiagnosing hollow organ perforation in the future.

Atypical presentations of celiac disease

Abstract In this study we evaluated the association of celiac disease in 81 children with autoimmune disease and genetic syndromes over a two years periods (January 2014 to July 2016) in Pediatric Clinic in Constanta. Because the extraintestinal symptoms are an atypical presentation of celiac disease we determined in these children the presence of celiac disease antibodies: Anti-tissue Transglutaminase Antibody IgA and IgA total serum level as a screening method followeds in selective cases by Anti-tissue Transglutaminase Antibody IgG, anti-endomysial antibodies, deamidated gliadin antibodies IgA and IgG and intestinal biopsia. In our study 8 patients had been diagnosed with celiac disease with extraintestinal symptoms, of which 4 with type 1 diabetes, 1 patient with ataxia, 2 patients with dermatitis herpetiformis and 1 patient with Down syndrome that associate also autoimmune thyroiditis, alopecia areata, enamel hypoplasia.