scholarly journals A rare case of dysphonia in mitochondrial myopathy

2017 ◽  
Vol 3 (3) ◽  
pp. 745
Author(s):  
Abha Kumari ◽  
Sunil Goyal ◽  
Virender Malik ◽  
Takhellambam Biram Singh ◽  
Vijay Krishnan Paramasivan ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Mitochondrial Myopathy ◽  
Rare Case ◽  
Mitochondrial Respiratory Chain ◽  
Muscle Disease ◽  
Diverse Group ◽  
Vocal Cords ◽  
Primary Dysfunction ◽  
Laryngeal Examination ◽  
Laryngeal Involvement

<p class="abstract"><span lang="EN-US">The mitochondrial myopathy consists of diverse group of disorders which is characterized by primary dysfunction of mitochondrial respiratory chain leading to muscle disease. The involvement of larynx is very rare and only few cases have been reported in the literature. This study presents the fourth published case of dysphonia in the setting of mitochondrial myopathy. A patient with dysphonia with laryngeal involvement in mitochondrial myopathy is presented with literature review. A 43 year old man presented with progressive dysphonia and muscle weakness. Laryngeal examination showed bilateral adductor weakness of vocal cords and biopsy revealed findings typical of mitochondrial myopathy (MM). He underwent conservative trial for dysphonia with no relief and subsequently medalization thyroplasty showed some improvement in dysphonia. </span>Mitochondrial myopathy should be considered in the differential diagnosis of dysphonia for early diagnosis and management.</p><p class="p"> </p>

scholarly journals A RARE CASE OF NEUROFIBROMATOSIS WITH SQUAMOUS CELL CARCINOMA OF EPIGLOTTIS

2021 ◽  
Vol VOLUME 9 (ISSUE 1) ◽  
pp. 40-42
Author(s):  
S Jayendiran
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Rare Case ◽  
Voice Change ◽  
Pyriform Fossa ◽  
Neuroectodermal Origin ◽  
Laryngeal Examination ◽  
Laryngeal Involvement ◽  
Rule Out

INTRODUCTION: The neurofibroma is a nonmalignant new growth of neuroectodermal origin. neurofibromas appear at the end of a nerve, often in the skin, producing small nonencapsulated nodules which may have pigmentation in the overlying skin. Neurofibromatosis with laryngeal involvement presents with dyspnea, followed by hoarseness, stridor, dysphagia, and voice change. most common sites involved in the larynx are the arytenoids and the aryepiglottic folds. CASE REPORT: 65-year-old female with previously diagnosed of neurofibromatosis since 10 years of age manifested by multiple cutaneous nodules The patient had symptoms of dysphagia, hoarseness of voice for past 2 months. Direct laryngeal examination using flexible endoscope showed a edematousulceroproliferative growth in the laryngeal surface of epiglottis and fullness in the left pyriform fossa. Hisopathological examination revealed squamous cell carcinoma from epiglottis and fibromatosis changes from pyriform fossa. CONCLUSION: All neurofibromatosis patient and their family members should under go regular oral and laryngeal examination to rule out complications at the earliest.

scholarly journals Mitochondrial myopathy caused by arsenic trioxide therapy

Blood ◽  
2012 ◽  
Vol 119 (18) ◽  
pp. 4272-4274 ◽  
Author(s):  
Andoni Echaniz-Laguna ◽  
Aurélien Benoilid ◽  
Stéphane Vinzio ◽  
Luc-Matthieu Fornecker ◽  
Béatrice Lannes ◽  
...  
Keyword(s):  
Arsenic Trioxide ◽  
Respiratory Chain ◽  
Mitochondrial Myopathy ◽  
Lipid Droplets ◽  
Chain Complex ◽  
Mitochondrial Respiratory Chain ◽  
Muscle Disease ◽  
Arsenic Content ◽  
Respiratory Chain Complexes ◽  
Mtdna Deletions

Abstract Arsenic trioxide (ATO) has been successfully used as a treatment for acute promyelocytic leukemia (APL) for more than a decade. Here we report a patient with APL who developed a mitochondrial myopathy after treatment with ATO. Three months after ATO therapy withdrawal, the patient was unable to walk without assistance and skeletal muscle studies showed a myopathy with abundant cytoplasmic lipid droplets, decreased activities of the mitochondrial respiratory chain complexes, multiple mitochondrial DNA (mtDNA) deletions, and increased muscle arsenic content. Six months after ATO treatment was interrupted, the patient recovered normal strength, lipid droplets had decreased in size and number, respiratory chain complex activities were partially restored, but multiple mtDNA deletions and increased muscle arsenic content persisted. ATO therapy may provoke a delayed, severe, and partially reversible mitochondrial myopathy, and a long-term careful surveillance for muscle disease should be instituted when ATO is used in patients with APL.

Laryngeal involvement in mitochondrial myopathy

1994 ◽  
Vol 108 (8) ◽  
pp. 685-687 ◽  
Author(s):  
C. Hartley ◽  
F. Ascott
Keyword(s):  
Mitochondrial Myopathy ◽  
Neuromuscular Disorders ◽  
Cellular Level ◽  
Clinical Findings ◽  
Therapeutic Options ◽  
Diverse Group ◽  
Mitochondrial Myopathies ◽  
Bulbar Symptoms ◽  
Previous Account ◽  
Laryngeal Involvement

AbstractA patient with a slowly progressive mitochondrial myopathy is presented. Mitochondrial myopathies are a diverse group of disorders both clinically and at the cellular level. In common with other neuromuscular disorders, bulbar symptoms may occur. However, though pharyngeal symptoms have been documented in all forms of the disorder, no previous account has described problems at the laryngeal level. We discuss the clinical findings and comment on the therapeutic options.

Leiomyoma with Bizarre Nuclei (Symplastic Leiomyoma) in the Paratubal Cyst Wall: Report of a Rare Case

2021 ◽  
pp. 106689692199779
Author(s):  
Murat Celik
Keyword(s):  
Differential Diagnosis ◽  
Smooth Muscle ◽  
Cyst Wall ◽  
Rare Case ◽  
Clinical Behavior ◽  
Uterine Smooth Muscle ◽  
Smooth Muscle Neoplasm ◽  
Histological Variants ◽  
Eosinophilic Cytoplasm ◽  
Paratubal Cyst

Leiomyoma is a benign mesenchymal tumor that develops from smooth muscle cells. It can present in various histological variants. Leiomyoma with bizarre nuclei is an infrequent variant of uterine smooth muscle neoplasm. It is characterized by focally or diffusely distributed bizarre cells on the background of a typical leiomyoma. These bizarre cells are large, multinucleated, or multilobulated and have an eosinophilic cytoplasm. Even though leiomyomas with bizarre nuclei display benign clinical behavior, their differential diagnosis from leiomyosarcoma can sometimes be difficult. Leiomyoma has been described most commonly in the uterus. There is no case of leiomyoma originating from paratubal cysts described in the literature. In this article, we present a rare case of leiomyoma with bizarre nuclei originating from a paratubal cyst.

scholarly journals Co-Occurrence of Guillain-Barre Syndrome and Multiple Sclerosis: A Rare Case Report

2021 ◽  
pp. 1-5
Author(s):  
Amr Hassan ◽  
Alaa El-Mazny ◽  
Mohammed Saher ◽  
Ismail Ibrahim Ismail ◽  
Mohammed Almuqbil
Keyword(s):  
Multiple Sclerosis ◽  
Differential Diagnosis ◽  
Case Report ◽  
Rare Case ◽  
Guillain Barre Syndrome ◽  
Guillain Barré Syndrome ◽  
Rare Case Report ◽  
Central Nervous Systems ◽  
Guillain Barré ◽  
Demyelinating Disorders

Guillain-Barre syndrome (GBS) and multiple sclerosis (MS) are autoimmune demyelinating disorders of the peripheral and central nervous systems, respectively. The co-occurrence of these 2 conditions is rare in the literature. Herein, we present a rare case of GBS and MS in a 19-year-old female who presented initially with GBS followed by MS, and we provide a literature review. Despite being rare, it should be kept in mind in the differential diagnosis of patients with atypical and usual presentation of both diseases.

scholarly journals Muscle biopsy essential diagnostic advice for pathologists

2021 ◽  
Vol 4 (1) ◽  
Author(s):  
Ana Cotta ◽  
Elmano Carvalho ◽  
Antonio Lopes da-Cunha-Júnior ◽  
Jaquelin Valicek ◽  
Monica M. Navarro ◽  
...  
Keyword(s):  
Liquid Nitrogen ◽  
Muscle Biopsy ◽  
Diagnostic Procedures ◽  
Mitochondrial Respiratory Chain ◽  
Muscle Disease ◽  
Diagnostic Workup ◽  
Main Body ◽  
Mitochondrial Myopathies ◽  
Muscle Enzymes ◽  
Molecular Studies

Abstract Background Muscle biopsies are important diagnostic procedures in neuromuscular practice. Recent advances in genetic analysis have profoundly modified Myopathology diagnosis. Main body The main goals of this review are: (1) to describe muscle biopsy techniques for non specialists; (2) to provide practical information for the team involved in the diagnosis of muscle diseases; (3) to report fundamental rules for muscle biopsy site choice and adequacy; (4) to highlight the importance of liquid nitrogen in diagnostic workup. Routine techniques include: (1) histochemical stains and reactions; (2) immunohistochemistry and immunofluorescence; (3) electron microscopy; (4) mitochondrial respiratory chain enzymatic studies; and (5) molecular studies. The diagnosis of muscle disease is a challenge, as it should integrate data from different techniques. Conclusion Formalin-fixed paraffin embedded muscle samples alone almost always lead to inconclusive or unspecific results. Liquid nitrogen frozen muscle sections are imperative for neuromuscular diagnosis. Muscle biopsy interpretation is possible in the context of detailed clinical, neurophysiological, and serum muscle enzymes data. Muscle imaging studies are strongly recommended in the diagnostic workup. Muscle biopsy is useful for the differential diagnosis of immune mediated myopathies, muscular dystrophies, congenital myopathies, and mitochondrial myopathies. Muscle biopsy may confirm the pathogenicity of new gene variants, guide cost-effective molecular studies, and provide phenotypic diagnosis in doubtful cases. For some patients with mitochondrial myopathies, a definite molecular diagnosis may be achieved only if performed in DNA extracted from muscle tissue due to organ specific mutation load.

scholarly journals Belated Diagnosis of a Primary Bone Lymphoma of the Elbow: A Rare Case and Review of the Literature

2020 ◽  
pp. 100-107
Author(s):  
Michele Boffano ◽  
Nicola Ratto ◽  
Martina Rezzoagli ◽  
Andrea Conti ◽  
Pietro Pellegrino ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Rare Disease ◽  
Rare Case ◽  
Early Stage ◽  
Bone Lesions ◽  
Review Of The Literature ◽  
Primary Bone Lymphoma ◽  
Lytic Bone Lesions ◽  
Primary Bone ◽  
Bone Lymphoma

Primary non-Hodgkin bone lymphoma (PBL) is a rare disease that accounts for <2% of all lymphomas in adults. PBL can be monostotic or polyostotic, mainly causing destructive and lytic bone lesions frequently located in the femur, humerus, and pelvis. PBL is rarely considered a differential diagnosis of the osteolytic tumor. In addition, PBL is not uncommonly diagnosed with delay because patients do not experience symptoms nor show objective abnormalities in the early stage of disease. Here, we reported a 60-year-old woman with a PBL of the elbow.

Surgical Management of the Peroneus Quartus Muscle for Bilateral Ankle Pain

2015 ◽  
Vol 105 (1) ◽  
pp. 85-91 ◽  
Author(s):  
Nobuaki Chinzei ◽  
Noriyuki Kanzaki ◽  
Yoshinori Takakura ◽  
Yoshiyuki Takakura ◽  
Akihiko Toda ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Differential Diagnosis ◽  
Rare Case ◽  
Lateral Compartment ◽  
Lower Leg ◽  
Foot And Ankle ◽  
Resonance Imaging ◽  
Ankle Pain ◽  
Accessory Muscle ◽  
Muscle Magnetic Resonance Imaging

The peroneus quartus muscle is an accessory muscle seen in the lateral compartment of the lower leg. Although the peroneus quartus muscle is asymptomatic in general, it sometimes becomes pathologic. We present the rare case of bilateral ankle pain with crepitation caused by the peroneus quartus muscle. Magnetic resonance imaging should be considered to assist with diagnosing this condition. Foot and ankle surgeons should consider it in the preoperative differential diagnosis when patients present with posterior ankle pain.

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