scholarly journals Pearls & Oy-sters: Symmetric Numbness and Paresthesia Due to Stroke-like Episode in an Adolescent Male With MELAS

Neurology ◽  
2021 ◽  
pp. 10.1212/WNL.0000000000012611
Author(s):  
Rachel Vassar ◽  
Nehali Mehta
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Lactic Acidosis ◽  
Adolescent Male ◽  
Neurologic Complications ◽  
Melas Syndrome ◽  
Rare Presentation ◽  
Neurologic Symptoms ◽  
Wide Range ◽  
Sensory Changes

Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) syndrome is a mitochondrial condition with a wide range of neurologic complications including migraines, seizures, and stroke-like episodes. This case report highlights a rare presentation of bilateral sensory changes related to MELAS and offers an opportunity to consider how a differential diagnosis may need to be modified in patients with underlying mitochondrial disorders. Neurologic symptoms in MELAS may defy classic localization patterns, and early neuroimaging is warranted.

Case Report and Literature Review of Nodular Hidradenoma, a Rare Adnexal Tumor That Mimics Breast Carcinoma, in a 20-Year-Old Woman

2019 ◽  
Vol 50 (3) ◽  
pp. 320-325
Author(s):  
Vanya Jaitly ◽  
Richard Jahan-Tigh ◽  
Tatiana Belousova ◽  
Hui Zhu ◽  
Robert Brown ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Breast Carcinoma ◽  
Literature Review ◽  
Sweat Glands ◽  
Rare Presentation ◽  
Adnexal Tumor ◽  
Nodular Hidradenoma ◽  
Growing Mass ◽  
Uncommon Tumor

Abstract Nodular hidradenoma is an uncommon cutaneous adnexal tumor arising from sweat glands. In the skin, it usually presents as a solitary dermal nodule; excision is curative in most cases. In rare instances, it may present as a breast mass and can mimic breast carcinoma clinically and radiologically, causing diagnostic dilemmas for the treating physician and pathologist. Herein, we discuss a case of nodular hidradenoma in a 20-year-old Hispanic woman as a rapidly growing mass in the breast that mimicked breast carcinoma. We discuss the rare presentation of this uncommon tumor and the differential diagnosis of this entity, as well as the results of our literature review on the topic.

scholarly journals A Solitary Ventral Scapular Osteochondroma causing Pseudo-winging of Scapula: A Case Report

2021 ◽  
Vol 11 (7) ◽  
Author(s):  
Eknath Pawar ◽  
Nihar Modi ◽  
Amit Kumar Yadav ◽  
Jayesh Mhatre ◽  
Sachin Khemkar ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Soft Tissue ◽  
Young Child ◽  
Chest Wall ◽  
Rare Case ◽  
Rare Presentation ◽  
Medial Border ◽  
Soft Tissue Masses ◽  
Scapular Region

Introduction: Winging of scapula is defined as a failure of dynamic stabilizing structures that anchor the scapula to the chest wall, leading to prominence of the medial border of scapula. It could be primary, secondary, or voluntary. Primary winging could be true winging due to neuromuscular causes or pseudo-winging due to osseous or soft-tissue masses. A scapular osteochondroma is a very rare presentation site and causes pseudo-winging leading to pushing away of the scapula away from the chest wall presenting as medial border prominence. Here, we are reporting a rare case of a scapular osteochondroma causing a pseudo-winging of the scapula. Case Report: A 2-year-old male child presented with painless, immobile, and non-fluctuant swelling over the left scapular region, insidious in onset and progressive in nature. On examination, a non-tender, immobile swelling was palpable with a painless and unrestricted range of motion at the shoulder joint. After evaluating radiographs and CT scan, the patient was diagnosed to have a ventral scapular osteochondroma leading to pseudo-winging of the scapula. Conclusion: Despite the rarity, a differential diagnosis of a scapular osteochondroma should be kept in mind while examining a young child presenting with a winged scapula. Keywords: Scapula, osteochondroma, pseudo-winging.

scholarly journals Normocytic Normochromic Anemia Revealed an Early Onset Hashimoto’s Hypothyroidism in an Infant: A Case Report

2021 ◽  
pp. 1-5
Author(s):  
Manal Mustafa Khadora ◽  
Maysa Saleh ◽  
Rawah Idres ◽  
Sura Ahmed Al-Doory ◽  
Mahmoud Ahmed Radaideh
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Autoimmune Thyroiditis ◽  
Subclinical Hypothyroidism ◽  
Early Onset ◽  
Clinical Presentation ◽  
Primary Hypothyroidism ◽  
Normocytic Normochromic Anemia ◽  
Wide Range ◽  
Normochromic Anemia

Autoimmune thyroiditis is very rare etiology of primary hypothyroidism in infancy. Hypothyroidism has a wide range of clinical presentation, from subclinical hypothyroidism to overt type. It is unclear what pathological mechanisms connect thyroid function and erythropoiesis or how thyroid disease can contribute to anemia. We report a 12-month-old infant who presented with anemia associated with early onset of overt autoimmune thyroiditis. The peculiarity of our case enables us to draw attention of physician to consider acquired hypothyroidism in the differential diagnosis of unexplained anemia even if the neonatal screening is normal and congenital hypothyroidism is a remote possibility.

Lung carcinoma presenting as bilateral metastases in the mandibular gingivae: a case report and literature review

Dental Update ◽  
2021 ◽  
Vol 48 (10) ◽  
pp. 846-848
Author(s):  
Nusaybah Elsherif ◽  
Predrag Jeremic ◽  
Tim Blackburn
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Literature Review ◽  
Metastatic Disease ◽  
Lung Carcinoma ◽  
Clinical Relevance ◽  
Rare Presentation ◽  
Oral Malignancies ◽  
Oral Abnormalities ◽  
Bilateral Metastases

This case report describes the rare presentation of lung carcinoma as bilateral masses affecting the mandibular gingivae. Although metastatic disease to the mouth is rare, accounting for only 1% of oral malignancies, it is essential to ensure that the presence of cancer is included in any differential diagnosis. CPD/Clinical Relevance: All oral abnormalities persisting for longer than 3 weeks should be referred urgently for specialist assessment and biopsy.

scholarly journals Recurrence of a Mediastinal Germ-Cell Tumor as a Somatic-Type Malignancy: A Complex Case Report

2021 ◽  
Vol 22 (17) ◽  
pp. 9310
Author(s):  
Caroline C. C. Hulsker ◽  
Mariëtte E. G. Kranendonk ◽  
Thomas F. Eleveld ◽  
Ad J. M. Gillis ◽  
Cornelis P. van de Ven ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Germ Cell ◽  
Germ Cell Tumor ◽  
Germ Cell Tumors ◽  
Large Cell ◽  
Cell Tumor ◽  
Complex Case ◽  
Adolescent Male ◽  
Cell Malignancy

Background and case: An adolescent male presented with a second mediastinal tumor 1.5 years after treatment of a proven malignant germ-cell tumor in that location. The differential diagnosis included a recurrent germ-cell tumor or a non-germ cell malignancy. Serum tumor markers alpha-fetoprotein (AFP) and human chorionic gonadotrophin (HCG) were negative. The first biopsy was not informative, and the second biopsy gave a broad differential diagnosis including secondary non-germ cell malignancy using histology and immunohistochemistry. DNA methylation profiling, RNA sequencing, and targeted microRNA371a-3p profiling was subsequently performed, without a supportive result. After resection of the tumor the definitive diagnosis yielded two secondary non-germ cell malignancies in the form of a leiomyosarcoma and a solitary neuro endocrine carcinoma (NEC). In spite of the differences between the molecular profiles of the initial germ-cell tumor, the leiomyosarcoma and large-cell NEC are clonally related, as determined by the presence of identical chromosomal breakpoints. The copy number profiles suggest an initial polyploidization step, followed by various independent chromosomal gains and losses. This case demonstrates that germ-cell tumors must be evaluated carefully, including molecularly, in which the non-germ cell malignancy is negative for miR-371a-3p, both in tissue as well as in serum, in contrast to the primary tumor. We conclude that the patient presented with a primary type II mediastinal GCT and, a year and a half later, followed by a leiomyosarcoma and a large-cell NEC presenting as two secondary somatic-type malignancies clonally related to the original GCT. Conclusions: Malignant germ-cell tumors are known to recur as a somatic-type malignancy in very rare cases. This case report illustrates the challenges faced in defining the nature and clonality of the secondary somatic-type malignancies.

scholarly journals Psychiatric Care For A Person With MELAS Syndrome: A Case Report

2021 ◽  
Author(s):  
Douglas Yeung Leong ◽  
Rei Yen Chee ◽  
Yit Shiang Lui
Keyword(s):  
Case Report ◽  
Lactic Acidosis ◽  
Multidisciplinary Team ◽  
Psychiatric Care ◽  
Mitochondrial Encephalomyopathy ◽  
Team Approach ◽  
Melas Syndrome ◽  
Team Members ◽  
Multidisciplinary Team Approach

A patient with diagnosed MELAS (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes) syndrome had developed psychological and behavioural disturbances at a later stage of his illness. Psychiatric care for this patient would not be possible without a multidisciplinary team approach involving multi-prong interventions from the different team members.

scholarly journals Calcific Myonecrosis of the Leg: A Case Report

2019 ◽  
Vol 2 (1-3) ◽  
pp. 47-53
Author(s):  
Kewal Gangrade ◽  
Girish Yeotikar ◽  
Arjun Wadhwani ◽  
Vinod Naneria
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Compartment Syndrome ◽  
Muscle Mass ◽  
Rare Presentation ◽  
Complete Excision ◽  
Radiological Features ◽  
Calcific Myonecrosis ◽  
Asymptomatic Patients ◽  
History Of

Calcific myonecrosis is characterized by central liquefaction and peripheral calcification involving the entire muscle mass and is considered to be a late sequel of compartment syndrome. Being a rare presentation, considering differential diagnosis is important. Diagnosis is based on history of trauma and typical radiological features. Symptomatic patients require complete excision of the mass while asymptomatic patients can be treated nonoperatively.

scholarly journals Adrenal Failure due to Adrenal Metastasis of Lung Cancer: A Case Report

2011 ◽  
Vol 2011 ◽  
pp. 1-4 ◽  
Author(s):  
Gustavo Adolpho Moreira Faulhaber ◽  
Flavia Kessler Borges ◽  
Aline Maria Ascoli ◽  
Renato Seligman ◽  
Tania Weber Furlanetto
Keyword(s):  
Lung Cancer ◽  
Weight Loss ◽  
Differential Diagnosis ◽  
Case Report ◽  
Adrenal Insufficiency ◽  
Adrenal Metastasis ◽  
Adrenal Failure ◽  
Rare Presentation

We report a case of a patient with adrenal failure due to bilateral adrenal metastasis of lung cancer. This is a rare presentation of lung cancer. We review the differential diagnosis of weight loss and how to make diagnosis of adrenal insufficiency.

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