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Atypical Presentations (atypical + presentation)

Distribution by Scientific Domains

Medical Sciences	96%

Distribution within Medical Sciences

Dermatology	22%
Infectious Disease & Microbiology	7%
9 Other Subdomains	49%

Selected Abstracts

Acinetobacter Endocarditis Presenting as a Large Right Atrial Mass: An Atypical Presentation

ECHOCARDIOGRAPHY, Issue 4 2010
Sherrita Bhagan-Bruno M.D.
This paper discusses a 26-year-old woman with end-stage renal disease on hemodialysis and Acinetobacter calcoaceticus-baumannii complex endocarditis. The patient had an indwelling right internal jugular catheter that was probably the nidus of infection. Transthoracic echocardiogram revealed an atypical presentation of the endocarditis as a large intracardiac mass, measuring in centimeters and occupying more than 50% of the right atrial cavity. The mass was attached to the lateral wall of the right atrium without valvular involvement. The patient was treated with prompt removal of the indwelling catheter, intravenous antibiotics, and surgical resection of the mass with an uneventful recovery. A literature search for cases of "Acinetobacter endocarditis" reveals this as the first case reported of Acinetobacter endocarditis presenting in this manner. (Echocardiography 2010;27:E39-E42) [source]

Unusual Left Atrial Appendage Mass: Atypical Presentation of Papillary Fibroelastoma

ECHOCARDIOGRAPHY, Issue 5 2008
Miroslawa Jablonski-Cohen M.D.
Papillary fibroelastomas are small, histologically benign neoplasms that are typically found on the valvular endocardium. We report a patient with a papillary fibroelastoma in an unusual location: the left atrial appendage. Although the mass was visualized both by computed tomography (CT) and transesophageal echocardiography, the diagnosis was histologically confirmed after surgical excision. [source]

Fabry Disease: An Atypical Presentation

PEDIATRIC DERMATOLOGY, Issue 4 2005
Sourab Choudhury D.O.
Patients typically have angiokeratomas distributed between the umbilicus and knees, painful crises of the hands and feet, and renal, ophthalmologic, and cardiac abnormalities. An 11-year-old boy presented with a 6-year history of widespread petechial-like lesions and painful crises of the hands and feet. On physical examination, he had numerous erythematous, nonblanching pinpoint macules and rare papules with an overlying crust. These lesions were widely distributed on his trunk, palms, and soles, while sparing the area between the umbilicus and knees. Histologic evaluation of one of these lesions found several dilated, blood-filled vessels in the upper dermis beneath a thinned epidermis. The patient also had markedly decreased , galactosidase A levels. Although the distribution of the angiokeratomas was atypical, the clinical and histologic findings were consistent with a diagnosis of Fabry disease. [source]

Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutation

MUSCLE AND NERVE, Issue 3 2009
Oleg Shchelochkov MD
Abstract Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is an autosomal recessive inborn error of metabolism characterized by impaired mitochondrial ,-oxidation of fatty acids with a chain length between 14 and 18 carbons. While expansion of newborn screening has improved our ability to detect VLCAD deficiency in early childhood, the late-onset form of the disease still presents a significant diagnostic challenge. We report a 20-year-old female with VLCAD deficiency who first presented in infancy with hypoketotic hypoglycemia. In childhood the patient developed complex partial seizures that were aggravated by Lamotrigine treatment. The clinical course in early adulthood was complicated by recurrent, often unprovoked, episodes of rhabdomyolysis and myoglobinuria. In addition, she suffered from chronic myalgia, muscle weakness, and diffuse abdominal tenderness. A muscle biopsy revealed accumulation of fat droplets. Her acylcarnitine profile showed significantly elevated C14, C14:1, C16, and C18-carnitines. Sequence analysis of ACADVL revealed a heterozygous recurrent mutation c.848T>C (p.V283A) and a heterozygous novel splice mutation c.879-8T>A that results in the inclusion of six nucleotides from intron 9 into the transcript sequence. The molecular characterization of this novel mutation and its correlation with the clinical phenotype are discussed. Muscle Nerve 39: 374,382, 2009 [source]

Atypical presentation of erythema elevatum diutinum

AUSTRALASIAN JOURNAL OF DERMATOLOGY, Issue 1 2005
Hoang Ly
SUMMARY A 47-year-old man presented with two red-brown plaques on his back. The histology was consistent with erythema elevatum diutinum. The case was unusual in the site of presentation and in the paucity of lesions. Investigations were aimed at screening for associations such as infections, malignancies and inflammatory diseases. Dapsone remained an effective treatment. [source]

Atypical presentations of thrombotic thrombocytopenic purpura: A review,

JOURNAL OF CLINICAL APHERESIS, Issue 1 2009
Ravi Sarode
Abstract Thrombotic thrombocytopenic purpura (TTP) is diagnosed by the presence of microangiopathic hemolytic anemia and thrombocytopenia in a patient who frequently presents with central nervous system involvement and, to a lesser extent, renal dysfunction. Recent understanding of the pathophysiology of TTP due to severe deficiency of von Willebrand factor cleaving protease, known as ADAMTS13, has improved diagnosis of TTP. Once the diagnosis is suspected, life-saving therapeutic plasma exchange therapy is initiated. Occasionally, an unusual clinical presentation makes TTP diagnosis difficult, thus resulting in a delay in the management of TTP. This review highlights a variety of atypical TTP presentations described in the literature. It is intended to bring unusual scenarios to the clinician's awareness, so that timely treatment can be delivered. J. Clin. Apheresis, 2009. © 2008 Wiley-Liss, Inc. [source]

Atypical presentations of pityriasis rosea: case presentations

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY & VENEREOLOGY, Issue 1 2005
A Chuh
ABSTRACT Atypical cases of pityriasis rosea (PR) are fairly common and less readily recognized than typical eruptions. We present four patients for whom we believe atypical PR is the most likely diagnosis. A 33-year-old man had purpuric lesions bilaterally on the legs with classical rash on the trunk. A 28-year-old woman had intensely pruritic and urticarial lesions. A 10-year-old girl had hundreds of small papular lesions 1,3 mm in size. A pregnant woman aged 26 had oral haemorrhagic ulcers with classical PR eruption on her trunk. The oral ulcers erupted and remitted at the same time as the generalized eruption. We reviewed the literature and proposed a classification based on rash morphology, rash size, rash distribution, number of lesions, site of lesions, severity of symptoms and course of the eruption. We believe that it is difficult to make a clear division to define typical and atypical PR, and that it is important not to ascribe any unusual or atypical skin eruption with PR unless other dermatoses have been excluded. [source]

Atypical presentations of Sweet's syndrome in patients with MDS/AML receiving combinations of hypomethylating agents with histone deacetylase inhibitors,

AMERICAN JOURNAL OF HEMATOLOGY, Issue 10 2009
Cristina Alencar
No abstract is available for this article. [source]

Giant Congenital Nevus with Progressive Sclerodermoid Reaction in a Newborn

PEDIATRIC DERMATOLOGY, Issue 4 2001
Sean F. Pattee B.S.
Giant congenital melanocytic nevi are a rare occurrence in the pediatric population. The risk of malignant transformation associated with these lesions has been well established; however, the management strategies for giant congenital nevi remain controversial. We report an unusual sclerodermoid reaction in a giant congenital nevus in a 6-week-old Caucasian girl. Given its abnormal clinical appearance, the entire lesion was excised. The histology was consistent with an atypical compound/sclerosing spindle and epithelioid cell congenital nevus. No evidence of malignant change was seen histologically. The incidence of malignant transformation in giant congenital nevi has been difficult to calculate. Review of the literature yields an incidence of between 4 and 9%, favoring surgical excision of these lesions where possible. Atypical presentations of giant congenital nevi are rare, and we have found no other reported cases with a stromal change similar to that seen in our patient. We hypothesize that this change may represent an atypical host reaction to the nevus cells. [source]

Familial paroxysmal exercise-induced dystonia: atypical presentation of autosomal dominant GTP-cyclohydrolase 1 deficiency

DEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 6 2010
RUSSELL C DALE
Paroxysmal exercise-induced dystonia (PED) is one of the rarer forms of paroxysmal dyskinesia, and can occur in sporadic or familial forms. We report a family (male index case, mother and maternal grandfather) with autosomal dominant inheritance of paroxysmal exercise-induced dystonia. The dystonia began in childhood and was only ever induced after many minutes of exercise, and was never present at rest, or on initiation of movements. In addition, family members suffered restless legs syndrome (RLS), depression, and adult-onset Parkinsonism. The index case had low cerebrospinal fluid neurotransmitters and pterins. The PED and RLS stopped on initiation of l -Dopa therapy. Both live family members were found to have a nonsense mutation (p.E84X) in exon 1 of the GTP-cyclohydrolase 1 (GCH-1) gene. We propose that GCH-1 mutations should be considered a genetic cause of familial PED, especially if additional clinical features of monoaminergic deficiency are present in affected individuals. [source]

Staphylococcus aureus Infective Endocarditis Mimicking a Hydatid Cyst

ECHOCARDIOGRAPHY, Issue 8 2010
Jeroen Walpot M.D.
We report an atypical echocardiographic presentation of Staphylococcus aureus infective endocarditis (IE) of the mitral valve in an octogenarian female. Echocardiography revealed perforation of the anterior mitral valve leaflet (AMVL), with a large cystic mass seemingly attached to the AMVL and surrounded by a thin membranous structure. These images were strongly reminiscent of a hydatid cyst. The significant comorbidity of the patient did not justify an urgent surgical approach, and the patient subsequently expired of cardiogenic and septic shock. Autopsy revealed a large vegetation attached to the interatrial septum in the immediate proximity of the AMVL, without signs of the membranous structure and without pathological evidence for septic embolism. This atypical presentation of IE prompted us to discuss a brief review of intracardiac cystic masses. (Echocardiography 2010;27:E80-E82) [source]

Acinetobacter Endocarditis Presenting as a Large Right Atrial Mass: An Atypical Presentation

Development of Geriatric Competencies for Emergency Medicine Residents Using an Expert Consensus Process

ACADEMIC EMERGENCY MEDICINE, Issue 3 2010
Teresita M. Hogan MD
Abstract Background:, The emergency department (ED) visit rate for older patients exceeds that of all age groups other than infants. The aging population will increase elder ED patient utilization to 35% to 60% of all visits. Older patients can have complex clinical presentations and be resource-intensive. Evidence indicates that emergency physicians fail to provide consistent high-quality care for elder ED patients, resulting in poor clinical outcomes. Objectives:, The objective was to develop a consensus document, "Geriatric Competencies for Emergency Medicine Residents," by identified experts. This is a minimum set of behaviorally based performance standards that all residents should be able to demonstrate by completion of their residency training. Methods:, This consensus-based process utilized an inductive, qualitative, multiphase method to determine the minimum geriatric competencies needed by emergency medicine (EM) residents. Assessments of face validity and reliability were used throughout the project. Results:, In Phase I, participants (n = 363) identified 12 domains and 300 potential competencies. In Phase II, an expert panel (n = 24) clustered the Phase I responses, resulting in eight domains and 72 competencies. In Phase III, the expert panel reduced the competencies to 26. In Phase IV, analysis of face validity and reliability yielded a 100% consensus for eight domains and 26 competencies. The domains identified were atypical presentation of disease; trauma, including falls; cognitive and behavioral disorders; emergent intervention modifications; medication management; transitions of care; pain management and palliative care; and effect of comorbid conditions. Conclusions:, The Geriatric Competencies for EM Residents is a consensus document that can form the basis for EM residency curricula and assessment to meet the demands of our aging population. ACADEMIC EMERGENCY MEDICINE 2010; 17:316,324 © 2010 by the Society for Academic Emergency Medicine [source]

Postoperative epidural hematoma or cerebrovascular accident?

ACTA ANAESTHESIOLOGICA SCANDINAVICA, Issue 2 2002
A dilemma in differential diagnosis
An elderly lady developed an epidural hematoma following combined spinal-epidural anesthesia with a local anesthetic,opioid mixture for a vaginal hysterectomy. This occurred in association with the use of prophylactic subcutaneously administered unfractionated heparin. She had diabetes, hypertension and had previously undergone coronary artery bypass surgery and right carotid endarterectomy. Warfarin and aspirin were discontinued 2 weeks before the surgery. Postoperatively, an atypical presentation of backache, bilateral sensory loss and left lower limb monoplegia ensued. The initial clinical impression was of a cerebrovascular accident. Magnetic resonance imaging, however, revealed an extensive epidural hematoma that necessitated decompression laminectomy. Progression to paraparesis occurred but the patient gradually regained much of her functionality over the next 2 years. [source]

Life Threatening Hemorrhage From Osteoradionecrosis of the Ribs and Clavicle

THE LARYNGOSCOPE, Issue 9 2007
MRCS, Mohammed Iqbal Syed MD
Osteoradionecrosis (ORN) is a familiar complication of radiotherapy. ORN of the clavicle and ribs is well documented after radiation therapy for breast and pulmonary malignancy. ORN of the clavicle after radiation therapy to the neck is very rare. We report the first case in which both clavicles and first ribs underwent ORN 14 years after neck irradiation and surgery for laryngeal malignancy. The presentation was atypical; erosion of the right internal mammary artery causing life-threatening hemorrhage. Otolaryngologists should be aware that ORN can occur at an unusual site and can have an atypical presentation. [source]

Restless legs syndrome: an early manifestation of Huntington's disease?

ACTA NEUROLOGICA SCANDINAVICA, Issue 4 2009
E. Savva
Background,,, Far from being uniform, Huntington's disease (HD)'s phenotype encompasses a large variety of motor and non-motor symptoms which occur in various combinations in individual patients. Aim,,, To describe an unusual association between restless legs syndrome (RLS) and HD. Methods and results,,, We report a patient with an atypical presentation of genetically demonstrated HD, who developed typical RLS a few years prior to and during the course of HD. Common causes of RLS were excluded and the polysomnography confirmed frequent and severe periodic limb movements during sleep and while awake. Conclusions,,, We propose RLS as an uncommon but early feature of HD in some patients, and suggest adding HD to the already long list of RLS secondary to neurodegenerative conditions. [source]

Childhood stroke in Eastern Province, KSA: pattern, risk factors, diagnosis and outcome

ACTA PAEDIATRICA, Issue 10 2009
Abdelhady Taha Emam
Abstract Background and purpose:, Stroke has been increasingly recognized in children in recent years, but diagnosis and management can be difficult because of the diversity of underlying risk factors, atypical presentation and the absence of a uniform treatment approach. The aim of this study was to examine risk factors, clinical presentation, imaging findings and outcomes of paediatric stroke in Eastern Province, Kingdom of Saudi Arabia (KSA). Subjects and methods:, We evaluated 25 patients (11 boys and 14 girls) using computerized tomography scan of the brain, magnetic resonance (MR) imaging and MR angiography. Cardiac assessment, haematological tests, immunological tests, infection and metabolic screening were also performed in the patients. After discharge, the patients were monitored regularly in the neurology clinic to detect their outcomes. Results:, A total of 76% of the patients presented with ischaemic stroke, while the remaining 24% had haemorrhagic stroke. Sickle cell disease (SCD) was the commonest risk factor for stroke (36%) followed by non determinate causes (20%). Seizure was the commonest clinical presentation (54%) followed by haemiplegia (31%) and decreased level of consciousness (30%). Recurrence occurred in SCD patients (80%) and patients with moyamoya disease (20%). Regarding the outcome, long-term deficit was the commonest (44%), while short-term deficit and death were equal (28% each). Conclusion:, Our study in Eastern Province, KSA, showed agreement with other studies regarding risk factors, clinical presentation, imaging features and outcomes of stroke in children, yet with some points of differences, which are as follows: (1) SCD is the commonest risk factor in our study population, while in Chinese study it was not, (2) The percentage of cardiac disorders as a risk factor in this study was less than that in the European and American studies, and (3) there was relative discrepancy regarding predictors of outcome. [source]

The neurologic manifestations of mitochondrial disease

DEVELOPMENTAL DISABILITIES RESEARCH REVIEW, Issue 2 2010
Sumit Parikh
Abstract The nervous system contains some of the body's most metabolically demanding cells that are highly dependent on ATP produced via mitochondrial oxidative phosphorylation. Thus, the neurological system is consistently involved in patients with mitochondrial disease. Symptoms differ depending on the part of the nervous system affected. Although almost any neurological symptom can be due to mitochondrial disease, there are select symptoms that are more suggestive of a mitochondrial problem. Certain symptoms that have become sine qua non with underlying mitochondrial cytopathies can serve as diagnostic "red-flags." Here, the typical and atypical presentations of mitochondrial disease in the nervous system are reviewed, focusing on "red flag" neurological symptoms as well as associated symptoms that can occur in, but are not specific to, mitochondrial disease. The multitudes of mitochondrial syndromes are not reviewed in-depth, though a select few are discussed in some detail. © 2010 Wiley-Liss, Inc. Dev Disabil Res Rev 2010;16:120,128. [source]

Atypical Spontaneous Intracranial Hypotension (SIH) With Nonorthostatic Headache

HEADACHE, Issue 2 2007
Doo-Sik Kong MD
Background.,Some patients with spontaneous intracranial hypotension (SIH) often do not demonstrate typical orthostatic headache, which is contrary to the typical SIH syndrome. They usually have an obscure and intermittent headache, regardless of their positional change. Object.,The objective of this study is to investigate the clinical course of atypical SIH that manifests with diffuse pachymeningeal enhancement, but no orthostatic headaches. Methods.,Between January 1997 and December 2005, we observed a total of 6 patients who revealed atypical presentations including nonpostural headaches and normal cerebrospinal fluid (CSF) pressure, despite the diffuse pachymeningeal enhancement seen on their MR images. For a comparison of the clinical features and the disease course, 13 other SIH patients with typical clinical manifestations were selected as a control group. Results.,Cerebrospinal fluid leakage sites were confirmed in only one patient through a variety of diagnostic tools; in contrast, definite focal CSF leakage sites were found in 12 of 13 patients with typical SIH. The 6 atypical SIH patients were treated with conservative treatment, including strict bed rest and intravenous hydration for 2 to 3 weeks. After a mean follow-up of 12 months, their headaches were gradually relieved after 2 to 3 weeks of conservative treatment only. Conclusions.,All SIHs do not necessarily show the typical clinical manifestations. The atypical finding of SIH such as nonorthostatic headache or normal CSF pressure may be the result of a normal physiologic response to the typical SIH as a compensatory reaction. Therefore, when faced with patients showing findings compatible with SIH on the brain MR images, regardless of nonpostural headache, atypical SIH should be suspected. [source]

Non-axial bone fracture but not depression as a risk factor for coeliac disease

INTERNAL MEDICINE JOURNAL, Issue 3 2010
V. P. Tan
Abstract Screening for coeliac disease is confined to subgroups at greater risk for the disease, including type 1 diabetes mellitus, autoimmune thyroid disease and family members of affected individuals. This study examined the hypothesis that patients taking antidepressants or presenting with fractures could represent new subgroups at higher risk for coeliac disease. A total of 105 and 199 consecutive patients presenting to hospital taking antidepressants and/or with a fracture was screened with IgA tissue transglutaminase and had their IgA serum levels quantified. Patients with positive serology were offered further diagnostic and management follow up. No patients taking antidepressants had positive serology. Seven with fractures had elevated titres of IgA tissue transglutaminase. All of these patients had presented with non-axial fractures, representing a prevalence of 5.2% (95% confidence interval: 1.4,8.9%). Uptake of further investigation and management was poor. Patients presenting with non-axial fractures may be a subgroup in whom coeliac screening may be indicated. There needs to be greater awareness of atypical presentations of coeliac disease. [source]

Role of dopamine transporter SPECT for the practitioner and the general neurologist

MOVEMENT DISORDERS, Issue S7 2003
Wolfgang H. Oertel
Abstract The accurate clinical diagnosis of parkinsonism may be impeded by atypical presentations and confounding comorbidity. The presence of parkinsonism is misdiagnosed in up to a quarter of cases in general practice. Movement disorder specialists misdiagnose parkinsonian syndromes using histopathological findings as the "gold standard" in up to 10% of cases. Dopamine transporter SPECT represents a simple and fast method to confirm nigrostriatal degeneration in a given patient. This study provides several case reports to illustrate when dopamine transporter SPECT might be carried out and discusses whether dopamine transporter SPECT should be used in primary health care practice or by general neurologists in uncertain cases. Ideally, all possible cases of parkinsonism should be referred to a neurologist experienced in the field of movement disorders. If this could be achieved then the role of dopamine transporter SPECT in the general practitioner's or local neurologist's practice would be extremely limited. Future studies must clarify whether it is cost effective to generously perform dopamine transporter SPECTs to minimize the time until parkinsonism can be diagnosed. © 2003 Movement Disorder Society [source]

Cutaneous Manifestations of Cystic Fibrosis

PEDIATRIC DERMATOLOGY, Issue 2 2008
Megan L. Bernstein M.D.
Classic disease findings include chronic bacterial infection of airways and sinuses, malabsorption of fat, infertility in men, and elevated concentrations of chloride in sweat. Less well-recognized findings associated with cystic fibrosis include cutaneous findings, which can be primary or secondary manifestations of the disease process. Patients demonstrate more atopic and drug hypersensitivity reactions than the general population, but have similar rates of urticaria compared with the general population. In atypical presentations of cystic fibrosis, the nutrient deficiency dermatitis of the disease may aid with diagnosis, and notably can be the presenting sign. Other dermatologic manifestations of cystic fibrosis include early aquagenic skin wrinkling and cutaneous vasculitis, which can be associated with arthralgias. Familiarity with the nutrient deficiency dermatitis of this entity may play a role in the timely diagnosis of the disease, and the other cutaneous findings add to our understanding of the protean nature of its manifestations. [source]

Racing against the clock: Recognizing, differentiating, diagnosing, and referring the amyotrophic lateral sclerosis patient,

ANNALS OF NEUROLOGY, Issue S1 2009
Steven J. Shook MD
Recognition of the early symptoms and signs in amyotrophic lateral sclerosis, exclusion of alternative diagnoses, and referral to a tertiary center can have a significant positive impact on the lives of patients and their caregivers. This article provides the most current amyotrophic lateral sclerosis criteria, as well as helpful clinical clues to the diagnosis. An approach to laboratory testing, electrodiagnostic testing, and imaging to exclude diseases that mimic ALS also are discussed, as are atypical presentations that can confound timely diagnosis. Ann Neurol 2009;65 (suppl):S10,S16 [source]

Two atypical presentations of a caecal polyp

ANZ JOURNAL OF SURGERY, Issue 10 2009
Inian Samarasam MBBS, Senior Registrar
No abstract is available for this article. [source]

Adrenal tuberculosis: the atypical presentations of eggshell-like calcifications

ANZ JOURNAL OF SURGERY, Issue 6 2009
A. H. Imisairi MD
No abstract is available for this article. [source]

An unusually extensive case of cutaneous anthrax in a patient with type II diabetes mellitus

CLINICAL & EXPERIMENTAL DERMATOLOGY, Issue 6 2005
E. Erkek
Summary Naturally acquired anthrax infection remains an important public-health problem in developing countries. Turkey is one of the countries in which the zoonotic form of anthrax may still be encountered. The most frequent portal of entry for anthrax spores is the skin. Although cutaneous anthrax is usually self-limiting, complications may arise in untreated cases. Underlying systemic disorders such as diabetes mellitus may confound the clinical picture and lead to atypical presentations. We present an unusually extensive case of cutaneous anthrax in a patient with newly diagnosed diabetes mellitus. [source]

Schistosomiasis as an unusual cause of appendicitis

CLINICAL MICROBIOLOGY AND INFECTION, Issue 2 2004
B. Doudier
Abstract Millions of people originating from tropical areas now live outside the country of their birth. As a consequence, the number of cases of diseases imported from the tropics and being seen by European physicians in immigrants is growing. As an example of such diseases, schistosomal appendicitis is a specific trait of infection with Schistosoma haematobium and is an uncommon cause of appendicitis in non-endemic areas. Treatment requires anti-schistomal medication in addition to surgery. Physicians, including surgeons, need to be aware of the possibility of seeing atypical presentations of parasitic diseases in immigrant patients. [source]