Diagnostic approach and differential diagnosis in patients with hypertrophied left ventricles

AbstractCardiac amyloidosis is a rare and often-misdiagnosed disorder. Among other forms of deposits affecting the heart, immunoglobulin-derived light-chain amyloidosis (AL amyloidosis) is the most serious form of the disease. Delay in diagnosis and treatment may have a major impact on the prognosis and outcomes of patients. This review focuses on the presentation of the disorder and current novel approaches to the diagnosis of cardiac involvement in AL amyloidosis.

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HTLV Myelopathy

10.1093/med/9780199732920.003.0009 ◽

2013 ◽

Author(s):

Aaron E. Miller ◽

Teresa M. DeAngelis

Keyword(s):

Spinal Cord ◽

Differential Diagnosis ◽

Spastic Paraparesis ◽

Tropical Spastic Paraparesis ◽

Diagnostic Approach ◽

Key Points

Infection due to the human T-lymphocytic 1 (HTLV-1) virus can result in a myelopathy involving the thoracolumbar spinal cord, which typically manifests clinically as a spastic paraparesis—hence its alternative moniker tropical spastic paraparesis. In this chapter, we summarize the diagnostic approach to a patient with a spastic paraparesis and the key points, which assist in narrowing down the lengthy differential diagnosis to HTLV-1.

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Clinical and histological challenge in the differential diagnosis of diffuse alopecia: female androgenetic alopecia, telogen effluvium and alopecia areata - part II

Anais Brasileiros de Dermatologia ◽

10.1590/s0365-05962012000600010 ◽

2012 ◽

Vol 87 (6) ◽

pp. 884-890 ◽

Cited By ~ 20

Author(s):

Betina Werner ◽

Fabiane Mulinari-Brenner

Keyword(s):

Differential Diagnosis ◽

Hair Loss ◽

Alopecia Areata ◽

Diagnostic Approach ◽

Androgenetic Alopecia

Diffuse alopecia is mainly caused by telogen effluvium, diffuse androgenetic alopecia (femalepattern hair loss) and diffuse alopecia areata. Differential diagnosis between the three disorders may be difficult in several occasions. In this second part of our study, chronic telogen effluvium and diffuse alopecia areata are discussed in detail, including clinical, dermoscopic and histological aspects. A flowchart presents a practical and objective differential diagnostic approach to diffuse alopecia.

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Autoimmune encephalitis and epilepsy: evolving definition and clinical spectrum

Clinical and Experimental Pediatrics ◽

10.3345/kjp.2019.00598 ◽

2020 ◽

Vol 63 (8) ◽

pp. 291-300 ◽

Cited By ~ 1

Author(s):

Joo Hee Seo ◽

Yun-Jin Lee ◽

Ki Hyeong Lee ◽

Elakkat Gireesh ◽

Holly Skinner ◽

...

Keyword(s):

Differential Diagnosis ◽

Plasma Membrane ◽

Neuropsychiatric Symptoms ◽

Autoimmune Encephalitis ◽

Behavioral Changes ◽

Diagnostic Approach ◽

Antibody Testing ◽

The Past ◽

Membrane Antigens ◽

Pathologic Processes

Advances in autoimmune encephalitis studies in the past 10 years have led to the identification of new syndromes and biomarkers that have transformed the diagnostic approach to the disorder. The disorder or syndrome has been linked to a wide variety of pathologic processes associated with the neuron-specific autoantibodies targeting intracellular and plasma membrane antigens. However, current criteria for autoimmune encephalitis are quite dependent on antibody testing and responses to immunotherapy, which might delay the diagnosis. This form of encephalitis can involve the multifaceted presentation of seizures and unexpected behavioral changes. The spectrum of neuropsychiatric symptoms in children is less definitive than that in adults, and the incorporation of clinical, immunological, electrophysiological, and neuroradiological results is critical to the diagnostic approach. In this review, we document the clinical and immunologic characteristics of autoimmune encephalitis known to date, with the goal of helping clinicians in differential diagnosis and to provide prompt and effective treatment.

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Chorea, Pruritus and Polycythemia: Looking for Clues

European Journal of Case Reports in Internal Medicine ◽

10.12890/2019_001039 ◽

2019 ◽

Author(s):

Vânia Rodrigues ◽

Carolina Lopes ◽

Adilson Marcolino ◽

Madalena Pinto

Keyword(s):

Differential Diagnosis ◽

Movement Disorder ◽

Polycythemia Vera ◽

Marked Reduction ◽

Elderly Women ◽

The Elderly ◽

Janus Kinase ◽

Diagnostic Approach ◽

Haematological Parameters ◽

Drug Induced

Chorea is a movement disorder usually due to vascular, hereditary, metabolic or drug- induced causes, and has rarely been reported in association with polycythemia vera (PV). Polycythemic chorea is an uncommon clinical entity that occurs more often in elderly women. PV is a treatable cause of chorea and must be considered during the diagnostic approach. We report the case of a 75-year-old woman with involuntary movements of the mouth and face with subsequent involvement of the trunk and limbs who was admitted for investigation of the chorea. The patient had the haematological attributes of PV and a positive mutation in the janus kinase 2 (JAK2) gene, and was therefore treated with hydroxyurea which led to a marked reduction in the chorea and improvement in haematological parameters. Various aetiologies of chorea must be considered in the elderly. The present case illustrates the importance of considering PV in the differential diagnosis, since its treatment leads to chorea resolution, thus avoiding serious complications.

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A proposal clinical classification and a diagnostic approach for the congenital ataxias

Neurology Clinical Practice ◽

10.1212/cpj.0000000000000966 ◽

2020 ◽

pp. 10.1212/CPJ.0000000000000966

Author(s):

Ivana Rocha Raslan ◽

Orlando G. Barsottini ◽

José Luiz Pedroso

Keyword(s):

Differential Diagnosis ◽

Cerebral Palsy ◽

Clinical Features ◽

Neurological Disorders ◽

Medical Literature ◽

Diagnostic Approach ◽

Cerebellar Hypoplasia ◽

Clinical Classification ◽

Pontocerebellar Hypoplasia

ABSTRACTPurpose of review:This review proposes a clinical classification for the congenital ataxias based on clinical features, neuroimaging and course of the disease.Recent findings:Congenital ataxias are an unusual group of neurological disorders, with heterogeneous clinical and genetic presentation. Typical clinical features of the congenital ataxias include variable degrees of motor developmental delay, very early onset cerebellar ataxia, cognitive impairment and hypotonia, frequently mistakenly diagnosed as cerebral palsy. Congenital ataxias are usually non-progressive. Neuroimaging plays an important role in characterization of the congenital ataxias. Despite development of genetics with exome sequencing, several congenital ataxias remain undetermined, and medical literature on this topic is scarce.Summary:A didactic classification based on clinical and neuroimaging features for the congenital ataxias includes four main groups: cerebellar malformation, syndromic congenital ataxias, congenital cerebellar hypoplasia and pontocerebellar hypoplasia. A diagnostic approach for the congenital ataxias is proposed, and their differential diagnosis are also discussed.

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