Rosai-Dorfman disease (RDD) with isolated central nervous system (CNS) involvement is an extremely rare disease. Most RDD of the CNS present as dural-based mass mimicking meningioma and other common lesions, which makes preoperative accurate diagnosis of great difficulty. We searched the pathology database in our hospital and 3 cases of RDD with isolated CNS involvement were finally included in our study. Radiological and clinical findings of these three cases were retrospectively analyzed. The lesions of 2 cases were dura-based against the cerebral convexity, presenting as a sheet-shaped thickened dura mater, another case was located just across the cerebral falx, the dural display in the center was intact. The 3 cases showed low signal intensity on T2-weighted image, obviously enhanced, significantly surrounding edema and finger-like protuberance but no invasion of the brain parenchyma or no sign of hyperplasia or sclerosis of the surrounding cranial bones. In conclusion, when we come across a disease that mimicking meningioma, especially when it manifests as the above radiological features, we should considered it might be a kind of proliferative disease of the meninges, such as RDD. For more information click here.
Individuals with urea cycle disorders (UCDs) often present with intellectual and developmental disabilities. The major aim of this study was to evaluate the impact of diagnostic and therapeutic interventions on cognitive outcomes in UCDs..The mean cognitive standard deviation score (cSDS) was lower in symptomatic than in asymptomatic individuals with UCDs. In ornithine transcarbamylase and argininosuccinate synthetase 1 deficiencies, we did not find evidence that monoscavenger therapy with sodium or glycerol phenylbutyrate was superior to sodium benzoate in providing cognitive protection. Early liver transplantation appears to be beneficial for UCDs. It is noteworthy that individuals with argininosuccinate synthetase 1 and argininosuccinate lyase deficiencies identified by newborn screening had better neurocognitive outcomes than those diagnosed after the manifestation of first symptoms. Cognitive function is related to interventional and non-interventional variables. Early detection by newborn screening and early liver transplantation appear to offer greater cognitive protection, but none of the currently used nitrogen scavengers was superior with regard to long-term neurocognitive outcome. For more information click here.
There are approximately 7 000 rare diseases affecting 25-30 million Americans, with 80% estimated to have a genetic basis. This presents a challenge for genetics practitioners to determine appropriate testing, make accurate diagnoses, and conduct up-to-date patient management. Exome sequencing (ES) is a comprehensive diagnostic approach, but only 25%-41% of the patients receive a molecular diagnosis. The remaining three-fifths to three-quarters of patients undergoing ES remain undiagnosed. The Stanford Center for Undiagnosed Diseases (CUD), a clinical site of the Undiagnosed Diseases Network, evaluates patients with undiagnosed and rare diseases using a combination of methods including ES. Frequently these patients have non-diagnostic ES results, but strategic follow-up techniques identify diagnoses in a subset. We present techniques used at the CUD that can be adopted by genetics providers in clinical follow-up of cases where ES is non-diagnostic. Solved case examples illustrate different types of non-diagnostic results and the additional techniques that led to a diagnosis. Frequent approaches include segregation analysis, data reanalysis, genome sequencing, additional variant identification, careful phenotype-disease correlation, confirmatory testing, and case matching. We also discuss prioritization of cases for additional analyses. For more information read the full article here.
Hereditary angioedema due to C1-INH deficiency (C1-INH-HAE) is a rare disease with unpredictable, self-limiting and localized swelling episodes involving the cutaneous and subcutaneous tissues. In the last decade, the spectrum of the possibilities to control the disease has considerably changed with the development of biologic therapies making necessary a careful evaluation of the differences among current and emerging treatments to properly optimize the management of patients. This review serves to summarize the literature regarding the use of biologics for the treatment of C1-INH-HAE. Medications already available on the market and new drugs in different phases of development are addressed. Тhe advent of biologic therapies dramatically improved the lives of patients with C1-INH-HAE although further improvement is still needed. Whether this is cost/effective will be answered in the next years when we will see if these major advances will benefit the majority of the patients. For more information click here.
In this study the authors investigate foetal and maternal pregnancy outcomes from a large multicentre cohort of women diagnosed with MCTD and anti-U1RNP antibodies. This multicentre retrospective cohort study describes the outcomes of 203 pregnancies in 94 consecutive women ever pregnant who fulfilled the established criteria for MCTD with confirmed U1RNP positivity. In the multicentre cohort, women with MCTD had a live birth rate of 72%. While the true frequency of heart block associated with anti-U1RNP remains to be determined, this study might raise the consideration of echocardiographic surveillance in this setting. Pregnancy counselling should be considered in women with MCTD. To read the full article, please click here.
An international meeting in support of the patients with acute porphyria will be held in Sofia on 06.06.2019 in the National Center of Public Health and Analyses from 13:00-17:00. Participants in the event will be patients with porphyria and their families, medical students and interns, general practitioners from the country and other medical specialist from the National Alliance of People with Rare Diseases (NAPRD). The participation of the event is free of charge but you need to register before 30.05.2019. For more information open the program of the event.
RareDis Solutions is a new unit within the Institute of Rare Diseases. RareDis Solutions utilises professional expertise to map all critical milestones through the rare disease customer’s experience journey in order to propose sustainable healthcare options and achieve improved patient outcome. RareDis Solutions aims to establish an efficient network between key stakeholders, so a specifically designed customer centric approach adapted to each step of the rare disease patient journey can be executed.
The Institute for Rare Diseases is the first interdisciplinary and multifunctioning rare disease organisation in Eastern Europe. Due to its professionally clustered 4 units: ICRDOD, “RareDis” Medical Centre, CAHTA and RareDis Solutions, the Institute is capable to offer comprehensive and coherent framework covering all aspects of the rare diseases and orphan drugs at local and regional level. We are striving each day to achieve our main objective – accelerate access for innovative treatment options and improve patient outcome for people with rare diseases. For more infromation check here: https://www.raredis.org/
Kimura’s disease (KD) is a rare condition, with only a few cases reported to date, mainly in Asian patients. We herein present the case of a 48-year-old man with KD who presented with recurrent masses in the right parotid gland and neck region over a 15-year period. The masses were not accompanied by pain, or significant functional or neurosensory dysfunction. The results of the laboratory tests revealed an increased eosinophil count and markedly elevated serum IgE levels. On magnetic resonance imaging examination, a widespread abnormal signal was detected in the area of the lesions; the contrast-enhanced scan revealed inhomogeneous enhancement, with partial involvement of the sternocleidomastoid muscle and the parotid gland. The patient underwent surgical resection of the right parotid and neck masses, and the postoperative pathological examination revealed eosinophilic hyperplastic lymphogranuloma, also referred to as KD. This presented case and review of the relevant literature aim to improve our understanding of KD in order to increase the accuracy of diagnosis, reduce the misdiagnosis rate and ensure proper treatment of this rare disease. The full article you can find here.
Haddad syndrome (HS) is a very rare disease considered a form of neurocristopathy. It is characterized by a combination of congenital central hypoventilation syndrome (CCHS) and Hirschsprung’s disease (HD). We report the clinical features and disease progression of HS to provide better care for HS patients by achieving an earlier diagnosis and optimal treatment. Medical records of patients diagnosed with HS from 2005 to 2016 were retrospectively reviewed. Demographic data including gestational age, birth weight and height, and paired-like homeobox 2b (PHOX2B) gene mutation were collected.
HS may require lifelong medical care. This study could be helpful to understand the clinical features of HS including associated abnormalities and disease progression. By assisting to understand the clinical features, we could provide better care for HS patients by achieving an earlier diagnosis and appropriate treatment. To read the full report check here.
In the last decades both diabetes mellitus and Alzheimer’s disease are constantly increasing. Affected individuals, therefore, represent an enormous problem for society, governments and global organizations. These diseases are usually considered as independent conditions, but increasing evidence shows that there are links between these two disorders. Some pathogenetic factors are shared by Type 2 Diabetes and Alzheimer’s Disease: chronic inflammation, oxidative stress, mitochondrial dysfunction, adiponectin deficiency, different expression of plasma cholinesterase activity and vascular damage could represent a possible explanation for the coexistence of these two conditions in many patients. A better understand of this issue and an appropriate management of diabetes by means of physical activity, low fat diet, and drugs to achieve a good glycemic control, avoiding both hyperglycemia and hypoglycemia, can represent a way to prevent cognitive decline and Alzheimer’s disease. The full article you can find here.