The differential diagnosis of chorea

Chorea is a hyperkinetic movement disorder characterised by excessive spontaneous movements that are irregularly timed, randomly distributed and abrupt. In this article, the authors discuss the causes of chorea, particularly Huntington's disease and the genetic syndromes that may resemble it, including HDL1-3, inherited prion disease, spinocerebellar ataxias 1, 3 and 17, neuroacanthocytosis, dentatorubro-pallidoluysian atrophy (DRPLA), brain iron accumulation disorders, Wilson's disease, benign hereditary chorea, Friedreich's ataxia and mitochondrial disease. Acquired causes of chorea include vascular disease, post-infective autoimmune central nervous system disorders (PANDAS), drugs, systemic lupus erythematosus, antiphospholipid syndrome, thyrotoxicosis, AIDS, chorea gravidarum, and polycythaemia rubra vera. The authors suggest an approach to the clinical assessment of chorea, the value of investigations, including genetic tests (for which they offer a structured framework highlighting the importance of prior counselling), and finally briefly discuss symptomatic drug treatment of chorea

Trichoscopy criteria for diagnosing female androgenic alopecia.

Differential diagnosis of chronic hair loss remains a challenge in dermatology. The aim of the study was to evaluate the value of a new scalp visualization technique, trichoscopy, in differential diagnosis of hair loss. Trichoscopy was performed in 131 females (59 with androgenic alopecia, 33 with chronic telogen effluvium, 39 healthy controls). Based study results, a standardized trichoscopy report was developed and diagnostic criteria for female androgenic alopecia were established. Major criteria: increased number of yellow dots and thin hairs, as well as decreased average hair thickness in frontal area. Minor criteria: increased frontal area to occiput ratio of single-hair units (>2:1), vellus hairs (>1.5:1) and follicles with perifollicular discoloration (>3:1) Fulfillments of 2 major criteria or 1 major and 2 minor is diagnostic for female androgenic alopecia with a 92% specificity. In conclusion, trichoscopy is the first method which allows differential diagnosis of hair loss and establishing the diagnosis of female androgenic alopecia

Improving differential diagnosis of vocal cord dysfunction

textPurpose: The purpose of this study was to assess whether the factors historically presented in the literature to differentiate vocal cord dysfunction (VCD) from breathing difficulties of other etiologies accurately predict and identify patients who have VCD. The researchers were also interested in whether patients with VCD have a higher risk of misdiagnosis than patients with breathing difficulties of other etiologies. Finally, the present study investigated whether patients with VCD were more likely to have their symptoms attributed to psychological factors than patients with breathing difficulties of other etiologies. Method: A survey comprised of 23 questions regarding the participants’ previous and current diagnoses, triggers that precede breathing difficulty, and whether or not the participants have ever been misdiagnosed was posted to internet support groups, websites, blogs, and forums. The final participant pool included 20 participants with VCD and 25 participants with asthma. Results: None of the factors investigated accurately differentiated participants with asthma from participants with VCD one hundred percent of the time. However, participants with VCD were more likely to report throat tightness during an attack, association of an attack with symptoms of acid reflux, and rapid resolution of symptoms without treatment. Conversely, participants with asthma were more likely to report expiratory stridor and chest tightness, full resolution of symptoms with use of asthma medications, nocturnal symptoms or symptoms just after waking, and symptoms that seemed to be triggered by environmental agents or allergens. Preliminary findings from the present study suggest that patients with VCD are both more likely to receive a misdiagnosis and have their symptoms attributed to psychological factors than participants with asthma. Conclusion: A diagnosis of VCD must be made very carefully, ideally with instrumental evaluation of the vocal mechanism during an acute “attack” of breathing difficulty. The factors identified in the literature to differentially diagnose patients with asthma from patients with VCD do not accurately differentiate these populations. These findings suggest that continued education about the nature of VCD and differential diagnosis should be paramount to medical professionals.Communication Sciences and Disorder

The great simulator

Cardiac myxoma often simulates multisystem disease and initially defies diagnosis. In this paper, we present three cases of cardiac myxoma in adults. Their clinical features and differential diagnosis will be reviewed, with special emphasis on their insidiousness and suspicion necessary for correct and prompt diagnosis. The role of echocardiography in diagnosis and treatment will be discussed, and finally, the surgical management and prognosis is briefly outlined.peer-reviewe

HE4 in the differential diagnosis of ovarian masses

Ovarian masses, a common finding among pre- and post-menopausal women, can be benign or malignant. Ovarian cancer is the leading cause of death from gynecologic malignancy among women living in industrialized countries. According to the current guidelines, measurement of CA125 tumor marker remains the gold standard in the management of ovarian cancer. Recently, HE4 has been proposed as emerging biomarker in the differential diagnosis of adnexal masses and in the early diagnosis of ovarian cancer. Discrimination of benign and malignant ovarian tumors is very important for correct patient referral to institutions specializing in care and management of ovarian cancer. Tumor markers CA125 and HE4 are currently incorporated into the Risk of Ovarian Malignancy Algorithm” (ROMA) with menopausal status for discerning malignant from benign pelvic masses. The availability of a good biomarker such as HE4, closely associated with the differential and early diagnosis of ovarian cancer, could reduce medical costs related to more expensive diagnostic procedures. Finally, it is important to note that HE4 identifies platinum non-responders thus enabling a switch to second line chemotherapy and improved survival

Malignancy within a tail gut cyst:a case of retrorectal carcinoid tumour

Purpose. Tailgut cysts with malignant transformation are rare entities. We discuss the diagnostic strategy and treatment of a malignancy within a tailgut cyst. Methods. In this study we report on the case of a 61-year-old man with a malignant neuroendocrine tumour arising within a tailgut cyst and an overview of the literature emphasising the histopathological characteristics and differential diagnosis. Results. Our patient presented with lower back pain, rectal pain, and increased urgency of defecation. MRI scan and CT-guided biopsy on histological analysis revealed a diagnosis of carcinoid tumour of the presacral space. The patient subsequently underwent an abdominoperineal excision of the rectum. Conclusions. This case highlights the importance of tailgut cysts as a differential diagnosis of presacral masses. It is a rare congenital lesion developing from remnants of the embryonic postanal gut and is predominantly benign in nature. Approximately half of cases remain asymptomatic; therefore, diagnosis is often delayed. Magnetic resonance imaging is the investigation of choice and an awareness of the possibility of malignant potential is critical to avoiding missed diagnosis and subsequent morbidity. Complete surgical excision allows accurate diagnosis, confirmation of oncological clearance, and prevention of mortality

Osteoblastoma of the femur in a patient with recurrent paronychia : case report

Background: Osteoblastoma is a rare primary benign bone tumor that has varied radiologic presentation depending on the affected site. In selected cases, differential diagnosis with subacute osteomyelitis is necessary. Case Report: The authors present the case of a 23 year-old male with recurrent paronychia diagnosed with osteoblastoma of the femur. On the basis of CT and MRI findings, osteosarcoma, ABC, enchondroma, chondromyxoid fibroma, and Brodie's abscess were excluded from differential diagnosis, with the last option being the second most probable diagnosis given the coexistence of chronic pyogenic process. Discussion: Plain film findings in osteoblastoma and Brodie's abscess may be strikingly similar with an osteolytic lesion surrounded by prominent sclerosis. The nature of the lesion can be further elucidated by cross-sectional imaging. CT helps to assess the lesion matrix and presence or absence of sequestra or fistulae, while MRI defines the extent of the changes in bone marrow cavity and soft tissues

Follow-up investigations of tau protein and S-100B levels in cerebrospinal fluid of patients with Creutzfeldt-Jakob disease

Background: S-100B and tau protein have a high differential diagnostic potential for the diagnosis of Creutzfeldt-Jakob disease (CJD). So far there has been only limited information available about the dynamics of these parameters in the cerebrospinal fluid (CSF). However, there is a special interest in finding biochemical markers to monitor disease progression for differential diagnosis and treatment. Patients and Methods: We analyzed CSF of 45 patients with CJD and of 45 patients with other neurological diseases for tau protein and S-100B in a follow-up setting. All diagnoses of CJD were later neuropathologically verified. A ratio between tau protein differences and the time between lumbar puncture was calculated. The same was done for S-100B. Results: Tau protein levels of 34 cases were above the cut-off level for CJD (>1,300 pg/ml) in the first CSF sample. In 7 of 11 patients with lower tau levels in the first CSF sample, tau levels rose. The above-mentioned ratio was significantly higher in the CJD group than in the group with other neurological diseases. Similar results were obtained for S-100B. Conclusion: We conclude that follow-up investigations and calculation of ratios is a useful tool in the differential diagnosis of CJD. Variations in this pattern were observed in single cases. Copyright (C) 2005 S. Karger AG, Basel