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International Journal of

Rare Diseases and DisordersISSN: 2643-4571

Early Online

 Open Access DOI:10.23937/2643-4571/1710063

Single-Cell Transcriptomic Analysis of Human Spinal Cords Elucidates Cell-Type-Specific Pathomechanisms in HNRNPH2-Related Neurodevelopmental Disorder

David H. Lee

Article Type: Research Article | Indexed Archive: Volume 8

HNRNPH2-Related Neurodevelopmental Disorder (HNRNPH2-RNDD) is an ultra-rare, X-linked condition characterized by motor impairments, intellectual disability, and global developmental delay. HNRNPH2 is a ubiquitously expressed protein, and the mechanism by which its mutations cause profound neurodevelopmental and motor dysfunction remains unclear....

 Open Access DOI:10.23937/2643-4571/1710061

Heterotopic Ossification in a 2-year-old girl: Fibrodysplasia Ossificans Progressiva

Mridul Singh, Anushka Aggarwal, Sneha Bhosale, Meera Shah, Renu Kumawat, Anita Mahajan and Sundeep Upadhayaya

Article Type: CASE REPORT | Indexed Archive: Volume 7

We report a case of a two-year-old girl presenting with progressive multiple bony swellings over the neck and back, diagnosed as Fibrodysplasia ossificans progressiva (FOP) based on radiological and genetic tests. FOP is an extremely rare disorder of heterotopic ossification which leads to progressive immobility. Efforts to correct deformities by surgical resection further stimulate new bone formation and lead to clinical worsening. Classically, FOP presents as malformation of the great toes and...

 Open Access DOI:10.23937/2643-4571/1710060

A Challenging Rare Case: Rosai-Dorfman Disease Presented as a Single Osseus Lesion in a 16-Month-Old Boy

Lili Miles, MD, Caroline Baughn, MD, Gleidson Silva, MD, Dorothea L. Douglas, MD and Lei Shao, MD

Article Type: Case Report | Indexed Archive: Volume 7

Sinus histiocytosis with massive lymphadenopathy (also known as Rosai-Dorfman disease (RDD)), a rare non-Langerhans cell histiocytosis, was originally recognized in 1969 by Rosai and Dorfman. RDD is characterized by the accumulation of activated histiocytes in various tissues and organs, but most commonly in lymph nodes. RDD is subclassified in two forms. The more common form, nodal RDD, and the rare form, extranodal RDD, which is based on the presence of extranodal tissue involvement. Most extr...

 Open Access DOI:10.23937/2643-4571/1710059

Researching Fabry Disease in Autosomal Dominant Polycystic Kidney Disease Patients

Yakup Özgüngör and Abdulmecit Yildiz

Article Type: Original Article | Indexed Archive: Volume 7

This study aims to determine the frequency of Fabry disease misdiagnosis with autosomal dominant polycystic kidney disease (ADPKD). Additionally, the study aims to characterize the clinical and biochemical features of Fabry disease patients initially diagnosed with ADPKD....

 Open Access DOI:10.23937/2643-4571/1710058

Craniofacial Fibrous Dysplasia: Is Alkaline Phosphatase an Accurate Marker of Disease Activity?

Wyatt Nice, Kezia Daniel, Kathleen Brindle and Rodolfo Curiel

Article Type: Case Report | Indexed Archive: Volume 7

Fibrous dysplasia is a rare benign bone condition in which mature bone is replaced with fibrous tissues. Disease activity is most prominent in the first three decades of life before becoming inactive. Elevations in alkaline phosphatase have been known to be present during times of active disease, however, the clinical utility of using alkaline phosphatase to monitor disease progression remains unclear. We present the case of a 72-year-old woman with a history of craniofacial fibrous dysplasia cl...

 Open Access DOI:10.23937/2643-4571/1710057

Navigating Rarity: Extranodal Presentation of Castleman Disease

Kovuri Umadevi, Lavanya Motrapu, Mohd Imran Ali and Rajarikam Nagarjunachary

Article Type: Case Report | Indexed Archive: Volume 7

Castleman disease (CD) is a rare lymphoproliferative disorder, originally described by Dr. Benjamin Castleman, characterized predominantly by enlarged mediastinal lymph nodes with unknown etiology. While it commonly affects mediastinal lymph nodes, occurrences in neck lymph nodes are less frequent, and presentation in the extremities is exceptionally rare. This report presents a case of a 55-year-old female with a 15-year history of a solitary swelling in her right arm. ...

 Open Access DOI:10.23937/2643-4571/1710049

Some Rare Neurosurgical Pathologies in a Sub-Saharan Tertiary Hospital

Ohaegbulam SC, FRCSEd, FRCS, FWACS, FMCS, FICS, NNOM, Ndubuisi C and Okwunodulu Okwuoma

Article Type: Research Article | Indexed Archive: Volume 5

In sub-Saharan Africa, several neurosurgical diseases are rare in neurosurgical practice, in contrast to other climes. Poor diagnostic and health facilities are always blamed. More than six decades after the birth of neurosurgery in the region, those deficiencies and workforce have markedly improved in neurosciences. The aim of this study was to identify the uncommon cranial neurosurgical lesions and their frequency in the study centre....

 Open Access DOI:10.23937/2643-4571/1710048

Development of an Innovative SQL-Based Approach to Identify Potential Patients with Neurotransmitter Disorders

Emily Fox, Vishal Mehta, Rajesh Madhu, Evangeline Wassmer, Ruchi Arora, Tony Cox, Dave Heaton, Julia Granerod and Mark Rance

Article Type: Research Article | Indexed Archive: Volume 5

The neurotransmitter disorders (NTDs) signs and symptoms range from early-onset severe neurological manifestations, often accompanied with developmental delay, to later-onset moderate movement disorders [1]. Timely diagnosis remains challenging. To develop the SQL algorithm we analysed pseudonymised patient records from the Hospital Episode Statistics (HES) database, which covers all National Health Service inpatient admissions in England, between April 2010 and May 2020....

 Open Access DOI:10.23937/2643-4571/1710047

Att. to Kabuki Syndrome (ORPHA: 2322)

Hermann Josef Mascher

Article Type: Letter to the Editor | Indexed Archive: Volume 5

Especially the metabolism around lysine seemed promising. I got from the parents of a Kabuki syndrome child a urine sample. The researcher who put me on this track was not able to deliver more urine samples within an appropriate time frame so our cooperation ended....

 Open Access DOI:10.23937/2643-4571/1710046

Kikuchi-Fujimoto Disease, A Case Report from Australia

Cecilia Gu and Sherman Gu

Article Type: Case Report | Indexed Archive: Volume 5

Kikuchi-Fujimoto disease (KFD), also known as Kikuchi’s disease or histiocytic necrotising lymphadenitis, is a rare and benign medical condition of unknown aetiology. It is often misdiagnosed as lymphoma or systemic lupus erythematosus (SLE), leading to inappropriate investigations and delayed treatment. It is thus important for clinicians to be cognizant of this condition when assessing patients with cervical lymphadenopathy....

 Open Access DOI:10.23937/2643-4571/1710045

Fahr's Syndrome Presenting with Dementia and Severe Hypocalcemia Decades after Total Thyroidectomy in A Woman Affected by Chronic Renal Failure and Psoriatic Arthritis: A Precipitating Role for Risankizumab?

Maurizio Giorelli, Tommaso Scarabino, Donato Iacobone and Pasquale Difazio

Article Type: Case Report | Indexed Archive: Volume 5

It may exist in an idiopathic form or it can be associated to calcium dysmetabolism due to parathormone (PTH) defect or signaling. Symptoms may span from parkinsonism to psychiatric syndromes, ataxia, convulsive seizures and dementia....

 Open Access DOI:10.23937/2643-4571/1710044

Very Rare Cause of Fixed Obstruction and Severe Asthma: A Case with Keutel Syndrome

Aysegul Canoglu1, Adem Dirican, MD, Sevket Ozkaya, MD and Ali Kutlu, MD

Article Type: Case Report | Indexed Archive: Volume 5

Keutel syndrome is rare inherited disorder with mutations in the matrix G1a protein (MGP). Most of the patient is diagnosed in early childhood. They admitted to the hospital due to hearing loss, recurrent upper respiratory tract infections, chronic cough....

 Open Access DOI:10.23937/2643-4571/1710043

Predictors of Quality of Life of Children and Adolescents with Osteogenesis Imperfecta

Juliana van de Sande Lee, MD, MSc, Genoir Simoni, MD, Ana Paula Vanz, MSc, Têmis Maria Félix MD, PhD, João Carlos Xikota, MD, PhD, Sílvia Modesto Nassar, TI, PhD, Maria Luiza Cimardi Rupp and Maria Marlene de Souza Pires, MD, PhD

Article Type: Original Article | Indexed Archive: Volume 5

Knowing the predictors of quality of life (QoL) of children with osteogenesis imperfecta (OI) can optimize their treatment. The present study evaluated a longitudinal cohort of children and adolescents in a reference center for OI. The results showed that we must target reducing fractures and pain and focus on rehabilitation. To evaluate the predictors of quality of life (QoL) of children and adolescents with osteogenesis imperfecta (OI). Descriptive cross-sectional study. Data were taken from a...

 Open Access DOI:10.23937/2643-4571/1710042

Follicular Mucinosis in Childhood: A Rare, but Significant Diagnosis

Maria Luiza Cimardi Rupp, Marice El Achkar Mello, MD, Amanda Amaro Pereira, MD, Maria Marlene de Souza Pires, MD, PhD

Article Type: Case Report | Indexed Archive: Volume 5

Follicular mucinosis (FM) is a rare cutaneous disease with unclear etiology; it was firstly described by Pinkus, et al. in 1957, who named it mucinous alopecia, referring to a characteristic process of the FM, which leads to alopecia. As this process was not seen on all developments of the disease, in 1959 Jablonska, et al. proposed to name it Follicular mucinosis. Follicular mucinosis is uncommon in children. Using the online searching databases Scielo and PubMed, during the past 10 years, only...

 Open Access DOI:10.23937/2643-4571/1710041

The Rare Disease Advisory Council Expands its Reach into West Virginia Appalachia: A Call to Action

Nadia Falah, MD

Article Type: Letter to the Editor | Indexed Archive: Volume 5

Patients with rare diseases in rural Appalachia face an additional hurdle in getting care. West Virginia is the only state wholly within the Appalachian region, which is noted for having some of the nation's worst health disparities. The West Virginia Advisory Council on Rare Diseases was established in January 2020 as part of the Rare Disease Advisory Council (RDAC) Acts, with the goal of developing strategies and recommendations to reduce health inequalities among West Virginians with rare dis...

 Open Access DOI:10.23937/2643-4571/1710040

Yellow Nail Syndrome: When Management Seems More Intriguing Than the Diagnosis

Konstantinos Porpodis, Ioanna Filippou, Ioanna Tsiouprou and Theodore Kontakiotis

Article Type: Case Series | Indexed Archive: Volume 5

Yellow nail syndrome is a rare condition of unknown etiology, which is defined by the triad of yellow, slowly growing thickened nails, lymphedema, and respiratory manifestations. In order to strengthen the literature on this topic, we report the case of a 64-year-old man with yellow nail syndrome and recurrent pleural effusion. The patient was referred to the Emergency Department because of dry cough and gradually worsening dyspnea over the previous two months. A diagnosis of yellow nail syndrom...

 Open Access DOI:10.23937/2643-4571/1710039

Peripheral T-Cell Lymphomas in Algeria: Results from a Multicenter Registry Study

Nadia Boudjera Belarbi, Mohamed Amine Bekadja, Mohanad Tayeb Abad, David Webb and Fatiha Grifi

Article Type: Case Series | Indexed Archive: Volume 5

Peripheral T-cell lymphomas (PTCLs) are a rare and heterogeneous group of aggressive malignancies derived from mature (postthymic) T lymphocytes. Currently, there are no published data describing the clinical characteristics and outcomes of Algerian patients with PTCL. To describe the clinical characteristics and treatment outcomes of patients included in an Algerian PTCL registry. Multicenter, non-interventional, cohort registry study of all patients with a diagnosis of PTCL attending four spec...

Volume 5
Issue 1