International Journal of

Rare Diseases and DisordersISSN: 2643-4571

Current Issue

 Open Access DOI:10.23937/2643-4571/1710028

A Biochemical Analysis beyond the Muscle Contraction and its Relation with Isaac Syndrome

Valdemir Aquino de Freitas Neto

Article Type: Review Article | First Published: December 31, 2020

Isaac Syndrome is an autoimmune disease related to the involuntary contraction of skeletal muscles. The author, thus, is going to connect it with the process of muscle contraction through a biochemical study, analysing the pathway from a nervous impulse to the open of voltage-gated Potassium channels and the releasing of Ca2+ on myofibrils. This paper intends to introduce this rare disease and to induce further researches in order to find a cure. The muscle contraction process starts on the Na+/...

 Open Access DOI:10.23937/2643-4571/1710027

A Novel Case of Maffucci Syndrome and a Likely High-Grade Lymphoma

Fleming S, Player P, Ladani S, Miall F, Goldney J and Levy MJ

Article Type: Case Report | First Published: November 16, 2020

A 54-year-old male with a history of Maffucci syndrome and Marginal Zone Lymphoma, presented with a 4-week history of headache, right-sidedptosis and diplopia. Whole-body imaging revealed a mass in the pituitary fossa that was likely lymphomatous. Despite diagnostic uncertainty, the mass was treated as transformation of Marginal Zone Lymphoma to a high-grade lymphoma. This report analyses how and why the multi-disciplinary team treated the patient without a biopsy. The case highlights a possible...

 Open Access DOI:10.23937/2643-4571/1710025

Distal Arthrogryposis Type Six and Systemic Lupus Erythematosus, in a Girl: First Pediatric Case

Houda Nassih, R El Qadiry, A Bourrahouat, and I Ait Sab

Article Type: Case Report | First Published: November 12, 2020

Arthrogryposis type six is one of the distal arthrogryposes. It associates arthrogryposis of the hands and sensorineural deafness. Male-to-male transmission was observed. No gene has been identified to date. We report a unique case of a girl presenting with congenital arthrogryposis-like hand anomaly, sensorineural deafness, and acute onset of systemic lupus erythematosus (SLE). Arthrogryposis-like hand and deafness syndrome or distal arthrogryposis type 6 (DA6) is characterized by an arthrogryp...

 Open Access DOI:10.23937/2643-4571/1710026

A Rare Case of an Ascending Aorta and Aortic Arch Aneurysm with an Aberrant Right Common Carotid Artery and a Proximal Descending Aortic Ectasia

Mikhail M Olalo, MD and Syril Bren P Guillermo, MD, FPCP, FPCC

Article Type: Case Report | First Published: November 12, 2020

Ascending aortic aneurysms are asymptomatic and are usually discovered as an incidental finding on chest imaging. However, larger aneurysms can present with symptoms resulting from compression of surrounding structures including the trachea, bronchi, and the esophagus which can result in hoarseness, cough chest pain or back pain. The presence of an aortic arch anomaly, specifically an aberrant right common carotid artery, in a background of an aortic arch aneurysm is extremely rare with a worldw...

 Open Access DOI:10.23937/2643-4571/1710024

Carotid Paragangliomas Related to Form Involving Multiple Systems (Syndromes and Diseases): A Systematic Literature Review

Francisco S Lozano-Sánchez MD, PhD, Angel Muñoz MD, PhD, José A de las Heras MD, PhD, Rogelio González-Sarmiento, MD, PhD and M Begoña García-Cenador MD, PhD

Article Type: Review Article | First Published: November 12, 2020

Carotid paragangliomas are infrequent tumours, generally single, non-functional and benign. Nevertheless, the biology of these tumours occasionally means they are bilateral, multicentric, functional and malignant. Such infrequency and the different ways they manifest themselves pose a diagnostic/ therapeutic challenge that is reflected in the final outcomes. According to the Shamblin classification, 75% of carotid paragangliomas are either Type I (tumour smaller than 4 cm, weakly attached to the...

 Open Access DOI:10.23937/2643-4571/1710022

Case Report: Tolosa-Hunt Syndrome Associated with a Chest Mass in a Pediatric Patient

William Im, Marla Sacks, Laura Goodman and Andrei Radulescu

Article Type: Case Report | First Published: October 02, 2020

Tolosa-Hunt Syndrome is a rare disease with an incidence rate of about one in one million per year worldwide. It is caused by granulomatous, nonspecific inflammation of the cavernous sinus, which results in severe headaches, eye pain, and ophthalmoplegia. This is the case of a previously healthy 10-year-old male with a family history significant for Non-Hodgkin’s Lymphoma and Squamous cell carcinoma who presented to the Emergency Department (ED) with an intense recurring headache and ophthalmo...

 Open Access DOI:10.23937/2643-4571/1710021

A Rare Case of Raised Alkaline Phosphatase - Polyostotic Fibrous Dysplasia

Dhanuja Senn and Mehdi Mirzazadeh

Article Type: Case Report | First Published: October 02, 2020

Fibrous dysplasia is an uncommon, bone development abnormality characterized by the replacement of normal cancellous bone by fibrous tissue and immature woven bone. Classified according to the number of affected bones, fibrous dysplasia can affect any bones of the skeletal system, with long bones the most commonly documented site of involvement. Typically, diagnosis is based on clinical, radiological and histological findings. However, due to its broad clinical spectrum, it remains a therapeutic...

 Open Access DOI:10.23937/2643-4571/1710020

Clinical Characteristics and Prognostic Factors in Patients with Hemophagocytic Syndrome

César Antonio Egües Dubuc, MD, Jaime Calvo-Alen, MD, PhD, Lizbeth Patricia Cabrera-Miranda, MD, Andrea De Diego Sola, MD, José Ramon Furundarena Salsamendi, MD, Nerea Alcorta Lorenzo, MD, Jesús Alejandro Valero Jaimes, MD, Luis María López Dominguez, MD, Jorge Jesús Cancio Fanlo, MD, Olga Maiz Alonso, MD, Esther Uriarte Isacelaya, MD and Joaquín María Belzunegui Otano, MD

Article Type: Original Article | First Published: September 09, 2020

The mortality rate of Hemophagocytic Syndrome (HPS) is 26.5%-74.8%. Malignant neoplasms, hyperferritinemia, thrombocytopenia, older age, hypertriglyceridemia, and prolonged prothrombin are considered to be adverse prognostic factors. This study describes the underlying features of patients survivors and non-survivors with HPS from one hospital between 2005-2019. This is a retrospective study. We included patient with HPS diagnosis based on the HLH-2004 criteria, or who presented hemophagocytic c...

Volume 3
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