scholarly journals The Importance of Muscle and Nerve Biopsies in the Diagnosis of Neuromuscular Diseases

2020 ◽  
Author(s):  
Gülden Diniz
Keyword(s):  
Differential Diagnosis ◽  
Histopathological Examination ◽  
Genetic Diseases ◽  
Neuromuscular Diseases ◽  
Mitochondrial Diseases ◽  
Nerve Biopsy ◽  
Case Examples ◽  
Inflammatory Neuropathy ◽  
Important Diagnostic Tool ◽  
Severity Of The Disease

Evaluation of muscle and nerve biopsy samples is an important diagnostic tool in patients with neuromuscular disease. It can be thought that the great developments in the field of medicine in recent years have reduced the importance of these investigations. However, histopathological examination narrows the genetic diseases panel to be applied in differential diagnosis by reducing possible diagnostic options, especially in the first approach. It also provides information about the severity of the disease that cannot be distinguished by genetic examination in the most frequently seen X-linked dystrophinopathies. It distinguishes inflammatory, metabolic, and mitochondrial diseases that can be confused with hereditary myopathies clinically. In some cases, the differential diagnosis approach is only made with repeated biopsy samples. As a result of the change in the concept of inflammatory neuropathy in nerve biopsies, evaluation of nerve biopsy is very important in the diagnosis of inflammatory neuropathy and in addition to grading myelin loss or axonal degeneration. In this review, it is aimed to emphasize with case examples the conditions where muscle and nerve biopsies are very important.

Ehlers-Danlos Syndrome, Kyphoscoliotic Type (Formerly Type VI) as Differential Diagnosis to Neuromuscular Diseases

2016 ◽  
Vol 47 (S 01) ◽  
Author(s):  
M. Schroth ◽  
C. Reihle ◽  
M. Wachowsky ◽  
L. Travan ◽  
M. Buob ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Neuromuscular Diseases ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

scholarly journals Giant Fibrovascular Polyp as an Unusual Cause of Globus Pharyngeus

2021 ◽  
pp. 014556132110039
Author(s):  
Jelena Sotirović ◽  
Ljubomir Pavićević ◽  
Stanko Petrović ◽  
Saša Ristić ◽  
Aleksandar Perić
Keyword(s):  
Differential Diagnosis ◽  
Asymptomatic Patient ◽  
Histopathological Examination ◽  
Complete Resection ◽  
Airway Compromise ◽  
Endoscopic Removal ◽  
Globus Sensation ◽  
Fibrovascular Polyp ◽  
History Of ◽  
Fatal Complications

Differential diagnosis of globus sensation in an otherwise asymptomatic patient should include hypopharyngeal fibrovascular polyp to avoid potentially fatal complications like airway compromise following regurgitation. We present a case of a 74-year-old man with a 13-cm long hypopharyngeal fibrovascular polyp with 9 months history of globus sensation. A narrow stalk of the giant polyp allowed endoscopic removal and complete resection with the CO2 laser. Histopathological examination was conclusive for the fibrovascular polyp.

Dermal fibrosarcoma in a Cashmere goat

2019 ◽  
Vol 47 (03) ◽  
pp. 192-195
Author(s):  
Julia Schoiswohl ◽  
Bianca Lambacher ◽  
Andrea Klang ◽  
Reinhild Krametter-Frötscher
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Connective Tissue ◽  
Malignant Tumors ◽  
Histopathological Examination ◽  
Low Grade ◽  
Cashmere Goat ◽  
Short Lifespan ◽  
Production Processes

AbstractFibrosarcomas are malignant tumors of the connective tissue, which are characterized by proliferation of fibroblasts. Most of these tumors are localized subcutaneously and cause different symptoms depending on their location. The case report describes a dermal tumor on the outside of the pinna in a 7-year-old female Cashmere goat. The tumor was surgically removed and histopathological examination revealed a low grade fibrosarcoma. Although tumors are rare in ruminants because of the animals’ short lifespan (age of slaughtering in most cases < 24 months) in modern production processes, they should be considered as a differential diagnosis.

scholarly journals Tonsillar tuberculosis : A case report

2016 ◽  
Vol 6 (12) ◽  
pp. 1048-1050
Author(s):  
S Karki ◽  
D Karki
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Pulmonary Tuberculosis ◽  
Oral Cavity ◽  
Histopathological Examination ◽  
Giant Cells ◽  
Rare Entity ◽  
Definite Diagnosis ◽  
Active Pulmonary Tuberculosis ◽  
Clinical Differential Diagnosis

Tuberculosis of the oral cavity which is an uncommon occurrence can be primary or secondary. In the absence of active pulmonary tuberculosis, isolated tonsillar tuberculosis is rare. Herein, we report two cases of bilateral tonsillar tuberculosis who presented as recurrent sore throat for which tonsillectomy was done. No active primary pulmonary lesion was found in these cases. Histopathological examination revealed caseating epithelioid granulomas with Langhans giant cells. Ziehl Neelson stain for acid fast bacilli was positive in one case. Tonsillar tuberculosis, though a rare entity, should be considered in the clinical differential diagnosis of tonsillar lesions. Histopathological examination with Ziehl Neelson stain should be performed for definite diagnosis.

scholarly journals Vulvovaginal lichen planus: A case report

2021 ◽  
Vol 12 (e) ◽  
pp. e54-e54
Author(s):  
Singh Th. Nandakishore ◽  
Yaku Kago ◽  
Linda Kongbam ◽  
Romita Bachaspatimayum
Keyword(s):  
Case Report ◽  
Lichen Planus ◽  
Progressive Disease ◽  
Histopathological Examination ◽  
Significant Proportion ◽  
Lichen Sclerosus ◽  
Adult Females ◽  
Important Diagnostic Tool ◽  
Self Examination ◽  
Postmenopausal Female

Genital lichen planus (LP) forms a small but significant proportion of non-venereal genital dermatoses. Lesions of vulvovaginal LP are often asymptomatic and may be overlooked on self-examination. Clinical features are very similar to lichen sclerosus which is frequently seen in children whereas mucosal vulval LP commonly affects adult females. Histopathological examination of the lesion is an important diagnostic tool for its early diagnosis as progressive disease poses a risk of scarring. We report a case of vulvovaginal LP in a 56-year-old postmenopausal female presenting with hypopigmented patches on vulva for 10 years.

Differential diagnosis of Duchenne muscular dystrophy

2021 ◽  
Vol 2 (3) ◽  
pp. 159-166
Author(s):  
Alexey L. Kurenkov ◽  
Lyudmila M. Kuzenkova ◽  
Lale A. Pak ◽  
Bella I. Bursagova ◽  
Tatyana V. Podkletnova ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Muscle Damage ◽  
Genetic Diagnosis ◽  
Clinical Manifestations ◽  
Neuromuscular Diseases ◽  
Muscular Dystrophies ◽  
Juvenile Form ◽  
Pathogenic Variants

Duchenne muscular dystrophy (DMD) is a disease with an X-linked recessive type of inheritance, belonging to a group of disorders with primary muscle damage, caused by pathogenic variants in the DMD gene and associated with dysfunction of the dystrophin protein. Since DMD is manifested by the gradual development of progressive, mainly proximal muscle weakness, the differential diagnosis is primarily carried out in the group of diseases with muscle damage - myopathies. Among these diseases, the leading candidates for differential diagnosis are hereditary myopathies (limb-girdle muscular dystrophies, facioscapulohumeral dystrophy, congenital muscular dystrophies, glycogenoses - the most common juvenile form of glycogenosis type II (Pompe disease)) and, much less often, congenital myopathies and other conditions of neuromuscular diseases). When conducting a differential diagnosis in a child with suspected DMD, the age of the onset of the disease, early initial clinical manifestations and the development of symptoms as they grow, genealogical analysis, laboratory tests (the level of creatine kinase, aspartate aminotransferase, alanine aminotransferase in blood serum), instrumental (electromyography, magnetic resonance imaging of the brain and muscles) and molecular genetics (polymerase chain reaction, multiplex ligation-dependent probe amplification, next-generation sequencing, Sanger sequencing, etc.) of studies, and in some cases, muscle biopsy data. Knowledge of the nuances of the differential diagnosis allows establishing a genetic diagnosis of DMD as early as possible, which is extremely important for the formation of the prognosis of the disease and the implementation of all available treatment methods, including pathogenetic therapy, and is also necessary for medical and genetic counselling of families with DMD patients.

Fidgetiness

2016 ◽  
pp. 245-254
Author(s):  
Donald W. Winnicott
Keyword(s):  
Differential Diagnosis ◽  
Heart Disease ◽  
Rheumatic Fever ◽  
Voluntary Control ◽  
Case Examples ◽  
Clinical Notes

Chapter 11 of Clinical Notes on Disorders of Childhood. In this chapter, Winnicott wishes to distinguish fidgetiness of anxious excitement, of tics, and of chorea. The differential diagnosis is of great importance as chorea carries with it a liability to rheumatic fever and heart disease. A mistake in diagnosis may mean either that a child who is not liable to heart disease is kept in bed and would be better up and about, or else that a child with chorea is punished at school for fidgetiness that is not under voluntary control, and made to do drill and play games just when the heart should be allowed the maximum rest. Winnicott discuss the signs of each and discusses diagnosis, giving case examples.

scholarly journals Juvenile Psammomatoid Ossifying Fibroma of Fronto-Ethmoid Complex Mimicking Fibrous Dysplasia: Case Report

2018 ◽  
Vol 8 (1) ◽  
pp. 33-36
Author(s):  
Kapil Adhikari ◽  
Ashok Raj Pant ◽  
Sapana Koirala
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Fibrous Dysplasia ◽  
Histopathological Examination ◽  
Plain Radiograph ◽  
Ossifying Fibroma ◽  
Histopathological Findings ◽  
Psammomatoid Ossifying Fibroma

Juvenile Psammomatoid Ossifying Fibromais a rare fibro-osseous tumor seen in children and adolescentand mostly arising from the cranio-facial bone.We report a case of 18-year-old boy who presented with diplopiaand progressive right fronto-orbital swelling. On plain radiograph and CT, it was diagnosed as fibrous dysplasiaand mucocele as differential diagnosis. The tumor was resected and histopathological examination showed psammomatoid features. Therefore, the diagnosis of Juvenile Psammomatoid Ossifying Fibroma must be based on both radiological and histopathological findings.

scholarly journals Seborrheic keratosis of the nasal tip-an unusual case report

2016 ◽  
Vol 21 (2) ◽  
pp. 119-121
Author(s):  
Abdullah Al Mamun ◽  
Dewan Mahmud Hasan
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Unusual Case ◽  
Clinical Presentation ◽  
Histopathological Examination ◽  
Histopathologic Examination ◽  
Seborrheic Keratosis ◽  
Hyperkeratotic Lesion ◽  
Unusual Case Report ◽  
Skin Mucosa

Seborrheic keratosis is a benign tumour of skin, a common hyperkeratotic lesion of the epidermis,that usually occurs in the trunk and less frequently in the extremities, face and the scalp. A 65-year old farmer presented with a long standing, slowly growing, firm, redbrown, polypoidal mass about 2×2.5 cm in size, located at the skin mucosa interfare of the tip of nose. The lesion was excised under general anesthesia and histopathologic examination showed seborrheic keratosis. Diagnosis is made on the basis of clinical & histopathological examination. Here, we discuss the clinical presentation, differential diagnosis, pathological diagnosis and management of such a case. There was no recurrence during a year follow-up.Bangladesh J Otorhinolaryngol; October 2015; 21(2): 119-121

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