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Concept: Differential diagnosis

172

A growing number of progressive heredodegenerative conditions mimic the presentation of Huntington’s disease (HD). Differentiating among these HD-like syndromes is necessary when a patient with a combination of movement disorders, cognitive decline, behavioural abnormalities and progressive disease course proves negative to the genetic testing for HD causative mutations, that is, IT15 gene trinucleotide-repeat expansion. The differential diagnosis of HD-like syndromes is complex and may lead to unnecessary and costly investigations. We propose here a guide to this differential diagnosis focusing on a limited number of clinical features (‘red flags’) that can be identified through accurate clinical examination, collection of historical data and a few routine ancillary investigations. These features include the ethnic background of the patient, the involvement of the facio-bucco-lingual and cervical district by the movement disorder, the co-occurrence of cerebellar features and seizures, the presence of peculiar gait patterns and eye movement abnormalities, and an atypical progression of illness. Additional help may derive from the cognitive-behavioural presentation of the patient, as well as by a restricted number of ancillary investigations, mainly MRI and routine blood tests. These red flags should be constantly updated as the phenotypic characterisation and identification of more reliable diagnostic markers for HD-like syndromes progress over the following years.

Concepts: Gene, Genetic disorder, Medical terms, Medical diagnosis, Huntington's disease, Presentation of Mary, Differential diagnosis, Huntingtin

169

BACKGROUND: Among a variety of more common differential diagnoses, the aetiology of acute respiratory failure includes Lyme neuroborreliosis. CASE PRESENTATION: We report an 87-years old huntsman with unilateral phrenic nerve palsy as a consequence of Lyme neuroborreliosis. CONCLUSION: Although Lyme neuroborreliosis is a rare cause of diaphragmatic weakness, it should be considered in the differential workup because of its potentially treatable nature.

Concepts: Medical terms, Lyme disease, Respiratory system, Thoracic diaphragm, Differential diagnosis, Phrenic nerve, Respiratory failure, Neuroborreliosis

165

In recent years, antisynthetase syndrome has been recognized as an important cause of autoimmune inflammatory myopathy in a subset of patients with polymyositis and dermatomyositis. It is associated with serum antibodies to aminoacyl-transfer RNA synthetases and is characterized by a constellation of manifestations, including fever, myositis, interstitial lung disease, “mechanic’s hands,” Raynaud phenomenon, and polyarthritis. Physicians should be familiar with its variety of clinical presentations and should include it in the differential diagnosis in patients presenting with unexplained interstitial lung disease.

Concepts: Medical terms, Medical diagnosis, Differential diagnosis, Myopathy, Polymyositis

162

Colonoscopy is a widely used diagnostic and therapeutic modality with a relatively low morbidity. However, given the large volume of procedures performed, awareness of the infrequent complications is essential. Perforation is an established complication of colonoscopy, and can range from 0.2%-3% depending on the series, population and modality of colonoscopy. Acute appendicitis after colonoscopy is an extremely rare event, and a cause-effect relationship between the colonoscopy and the appendicitis is not well documented. In addition, awareness of this condition can aid in prompt diagnosis. Relatively mild symptoms and exclusion of bowel perforation by contrast studies do not exclude appendicitis from the differential diagnosis for post-colonoscopy pain. In addition to the difficult diagnosis inherent to postcolonoscopy appendicitis, treatment strategies have varied greatly. This paper reviews these approaches. We also expand upon prior articles by giving guidance for the role of nonoperative management in these patients. This case and review of the literature will help to create awareness about this complication, and guide optimal treatment of pericolonoscopy appendicitis.

Concepts: Medical terms, Diagnosis, Medical emergencies, Medical diagnosis, Differential diagnosis, Peritonitis, Rectal examination, Vermiform appendix

152

Adenomyomatosis of gallbladder is an acquired hyperplastic lesion, characterized by focal or diffuse thickening of the gallbladder with intramural cysts or echogenic areas with comet tail on ultrasonography. But in some cases, especially in the localized fundal type of adenomyomatosis, the intramural anechoic cystic spaces are uncertainty which causes difficult to differential adenomyomatosis from GB cancer. The purpose of this study was to determine the accuracy of real-time contrast-enhanced ultrasonography(CEUS) in the diagnosis of the fundal localized type of gallbladder adenomyomatosis.

Concepts: Cyst, Polycystic ovary syndrome, Contrast-enhanced ultrasound, Differential diagnosis, Comet, Gallbladder polyp

145

Ovarian tumors in reptiles are uncommonly reported in the literature and for green iguanas previously reported cases include teratomas, one adenocarcinoma and one papillary cystadenocarcinoma. The present report is the first of a malignant ovarian teratoma in a green iguana. Complete and detailed pathological features, differential diagnosis and surgical management of malignant ovarian teratoma are discussed in this paper.

Concepts: Medical diagnosis, Ovarian cancer, Differential diagnosis, Teratoma, Lizard, Iguanidae, Green Iguana, Iguana

144

Formation of intra-abdominal adhesions is a common consequence of abdomino-pelvic surgery, radiation therapy, and inflammatory processes. In a small but clinically significant proportion of patients, adhesive disease may develop, wherein adhesions lead to a variety of chronic symptoms such as abdominal distension, pain, nausea, and abnormal bowel movement pattern which can be daily, intermittent, or episodic. Due to the chronic and troublesome nature of these symptoms, adhesive disease may be life-altering in many patients, particularly when not recognized and appropriately addressed, as is the case not infrequently. In addition, there is a paucity of literature regarding the evaluation and management of patients with suspected abdominal adhesive disease. Therefore, in this concise review, we provide a clinically practical synopsis of the etiopathogenesis, symptoms, differential diagnosis, evaluation, and treatment of abdominal adhesive disease.

Concepts: Medicine, Cancer, Medical terms, Chemotherapy, Medical diagnosis, Bowel obstruction, Differential diagnosis, Kanye West

39

Synopsis The hallmark features of patellar tendinopathy are (1) pain localized to the inferior pole of the patella and (2) load related pain that increases with the demand on the knee extensors, notably in activities that store and release energy in the patellar tendon. While imaging may assist in differential diagnosis, the diagnosis of patellar tendinopathy remains clinical, as asymptomatic tendon pathology may exist in people who have pain from other anterior knee sources. A thorough examination is required to diagnose patellar tendinopathy and contributing factors. Management of patellar tendinopathy should focus on progressively developing load tolerance of the tendon, the musculoskeletal unit, and the kinetic chain as well as addressing key biomechanical and other risk factors. Rehabilitation can be slow and sometimes frustrating. This review aims to assist clinicians with key concepts related to examination, diagnosis, and management of patellar tendinopathy. Difficult clinical presentations (eg, highly irritable tendon, systemic comorbidities) as well as common pitfalls such as unrealistic rehabilitation timeframes and over-reliance on passive treatments are also discussed. J Orthop Sports Phys Ther, Epub 21 Sep 2015. doi:10.2519/jospt.2015.5987.

Concepts: Medical terms, Femur, Medical diagnosis, Knee, Differential diagnosis, Tibia, Patella, Patellar ligament

28

Candida auris is a multidrug resistant, emerging agent of fungemia in humans. Its actual global distribution remains obscure as the current commercial methods of clinical diagnosis misidentify it as C. haemulonii. Here we report the first draft genome of C. auris to explore the genomic basis of virulence and unique differences that could be employed for differential diagnosis.

Concepts: Medical terms, Human Genome Project, Microbiology, Genome, Medical diagnosis, The Current, Differential diagnosis, First Draft of a Report on the EDVAC

28

Desmoplastic melanoma is an uncommon variant of melanoma which presents significant challenges to the clinician and histopathologist. In particular, many cases show a bland ‘fibroblastic’ appearance, mimicking scar and a range of other benign proliferations. This diagnosis can be particularly problematic in small biopsy specimens, a difficulty exacerbated by an immunoprofile which is typically negative for a number of conventional melanocytic markers. The clinical and histological features of desmoplastic melanoma are reviewed, as are the differential diagnoses and some newer techniques which may contribute to assessment of these lesions. In recent years it has become clear that subclassification of desmoplastic melanoma into pure and mixed variants has clinical significance and it is suggested that this classification be employed in routine practice.

Concepts: Biology, Medical terms, Medical diagnosis, Differential diagnosis