International Journal of

Rare Diseases and DisordersISSN: 2643-4571

Current Issue

 Open Access DOI:10.23937/2643-4571/1710013

Disseminated Cryptococcosis in a Deceptively Immunocompetent Adolescent

Vivek Sood, Raja Ramachandran, Rakesh Kumar Pilania, Arun Prabhakar, Neeraj Inamdar, Navin Pattanashetti, Vibhu Joshi, Madhubala Sharma, Amit Rawat, HS Kohli and KL Gupta

Article Type: Case Report | First Published: October 28, 2019

Cryptococcosis particularly if disseminated or extrapulmonary, in an otherwise immune-competent individual, especially if young, requires thorough evaluation for underlying primary immunodeficiency including Mendelian susceptibility to mycobacterial disease (MSMD). In this context, we describe an adolescent diagnosed with disseminated cryptococcosis involving skin, lymph nodes, spleen and hepato-biliary involvement with reduced IL-12β1 receptor expression suggesting underlying MSMD. Following i...

 Open Access DOI:10.23937/2643-4571/1710012

Fulminant Progressive Brainstem Encephalitis as Initial Manifestation of NeuroBechet's Disease

Tierra Rodriguez AM, MD, Fernandez Diaz A, M2, Perez Ruiz D, MD and Lopez Prada B, MD

Article Type: Case Report | First Published: October 07, 2019

Bechet's disease is a multisystemic process that can mimic many other diseases. Neurological features can be its first-onset symptoms. Brainstem is usually affected, so that a wide differential diagnosis is mandatory. We report the case of a patient who developed a fulminant and rapidly progressive brainstem encephalitis owing to NeuroBechet's disease. Bechet's disease (BD) is a hard-to-diagnose entity. Neurological features can sometimes be the first manifestation of the disease. Its symptoms c...

 Open Access DOI:10.23937/2643-4571/1710011

Dietary Intake and Hedonic Preferences for Sodium in Children, Adolescents and Young Adults with Barth Syndrome

Stacey Reynolds PhD, OTR/L, FAOTA, M Emily Tucker MS, OTR/L, W Todd Cade, PT, PhD, Nicol Clayton and Shelly J Lane PhD, OTR/L, FAOTA

Article Type: Original Research | First Published: September 28, 2019

Individuals with Barth syndrome (BTHS) present with decreased activity tolerance and high fatigability. Recent evidence suggests that differences in metabolic function in BTHS negatively impact the production of aerobic energy for activity and maintenance of muscle mass. Recommendations on a metabolically beneficial diet are complicated by selective eating behaviors often seen in individuals with BTHS. While known to be selective eaters with a preference for salty foods, there is limited evidenc...

 Open Access DOI:10.23937/2643-4571/1710009

Adult-Onset Epilepsy in Klinefelter Syndrome? Cognitive and Neurophysiological Evaluation of a 56-Year-Old Man

Yvonne Holler Adriana Sciarrone, Aljoscha Thomschewski and Nathalie Gerner

Article Type: Case Report | First Published: September 06, 2019

Klinefelter syndrome (KS) is one of the most common sex chromosome abnormalities and several cases are documented where children with KS present with epilepsy. Also, cognitive function deficits are common, despite high-functioning cases might occur. However, most reported cases are children or young adults. This case suggests that high-functioning patients with KS may present with epilepsy-typical activity, that could be indicative for late-onset epilepsy. Diagnostic means of routine EEG can be ...

 Open Access DOI:10.23937/2643-4571/1710008

Baseline Knowledge of Rare Diseases in India - A Survey

Agrawal RK, Amaresh Rao M, Brian M, Chowdary GKB, Gayatri K, Krishnaji Rao M, Sambasiva Rao P, Namineni S, Srinivasa Rao N, Sikri BR, Syed S, Gawron S, Agarwal DR, Lakshmi K and Ramaiah Muthyala

Article Type: Original Research | First Published: August 29, 2019

Recently, rare diseases have received worldwide attention. The developing countries have fallen seriously behind in regards to awareness, drug development, diagnosis, and social services. India, which has one-third of world rare diseases population, has neither accepted definition for RD nor an accurate assessment of the problem. Due to the exorbitant cost of orphan drugs, difficulties in diagnosis and treatments, the Indian government is often in a dilemma as to how to effectively, and efficien...

 Open Access DOI:10.23937/ijrdd-2017/1710007

Cladribine in the Treatment of Systemic Mastocytosis, a Review of the Literature

Marlies EHM and Van Hoef, MD, Phd, MBA

Article Type: REVIEW ARTICLE | First Published: March 07, 2019

Mastocystosis is a rare disease for which treatment with cladribine (2-chlorodeoxyadenosine) was first reported in 2001. Cladribine has meanwhile been administered in over hundred reported cases and is available for intravenous and subcutaneous administration. Cladribine has mainly been used in systemic mastocytosis and in larger series responses were obtained in over 50% of cases in which treatment with H1/H2 blockers, interferon or tyrosine kinase inhibitors did not induce a response. Literatu...

 Open Access DOI:10.23937/ijrdd-2017/1710006

Is Phoenicia the Origin of the N1303K CFTR Mutation?

Raed Farhat, Marie Claude Pasquet, Sandra Corbani, Andre Megarbane, Alain Kitzis and Veronique Ladeveze

Article Type: Commentray | First Published: January 26, 2019

The history of Lebanon, characterized by flows of different ethnic groups, has enabled the introduction of new genes and a wide variety of genetic diseases. The early development of medical services in Lebanon has facilitated the detection of many inherent disorders. CF figures among the 184 reported genetic diseases of the Lebanese population. Even though no epidemiological studies were performed to determine the CF incidence in Lebanon, multiple factors advocate that it could be relatively hig...

Volume 2
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