Common symptoms for a rare disease in a girl with sarcoidosis: a case report

Giovannini, Mattia; Luzzati, Michele; Ferrara, Giovanna; Buccoliero, Anna Maria; Simonini, Gabriele; Martino, Maurizio de; Cimaz, Rolando; Giani, Teresa

doi:10.1186/s13052-018-0517-6

Cited by 5 publications

(3 citation statements)

References 26 publications

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“…The difficulties in providing a diagnosis arise due to several interacting factors. Rare diseases have been widely reported as presenting with phenotypic and genetic heterogeneity which can make them difficult to diagnose even by specialists with prior experience [8][9][10][11], and the often multi-system impact of the conditions can mean they are masked by common complex disease symptoms [12]. Overlapping phenotypes in patients with more than one rare disease can also be difficult to differentiate and provide a conclusive diagnosis [13].…”

Section: Introductionmentioning

confidence: 99%

A scoping review and proposed workflow for multi-omic rare disease research

Kerr¹,

McAneney²,

Smyth³

et al. 2020

Orphanet J Rare Dis

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Background: Patients with rare diseases face unique challenges in obtaining a diagnosis, appropriate medical care and access to support services. Whole genome and exome sequencing have increased identification of causal variants compared to single gene testing alone, with diagnostic rates of approximately 50% for inherited diseases, however integrated multi-omic analysis may further increase diagnostic yield. Additionally, multi-omic analysis can aid the explanation of genotypic and phenotypic heterogeneity, which may not be evident from single omic analyses. Main body: This scoping review took a systematic approach to comprehensively search the electronic databases MEDLINE, EMBASE, PubMed, Web of Science, Scopus, Google Scholar, and the grey literature databases OpenGrey / GreyLit for journal articles pertaining to multi-omics and rare disease, written in English and published prior to the 30th December 2018. Additionally, The Cancer Genome Atlas publications were searched for relevant studies and forward citation searching / screening of reference lists was performed to identify further eligible articles. Following title, abstract and full text screening, 66 articles were found to be eligible for inclusion in this review. Of these 42 (64%) were studies of multi-omics and rare cancer, two (3%) were studies of multi-omics and a pre-cancerous condition, and 22 (33.3%) were studies of non-cancerous rare diseases. The average age of participants (where known) across studies was 39.4 years. There has been a significant increase in the number of multi-omic studies in recent years, with 66.7% of included studies conducted since 2016 and 33% since 2018. Fourteen combinations of multi-omic analyses for rare disease research were returned spanning genomics, epigenomics, transcriptomics, proteomics, phenomics and metabolomics. Conclusions: This scoping review emphasises the value of multi-omic analysis for rare disease research in several ways compared to single omic analysis, ranging from the provision of a diagnosis, identification of prognostic biomarkers, distinct molecular subtypes (particularly for rare cancers), and identification of novel therapeutic targets. Moving forward there is a critical need for collaboration of multi-omic rare disease studies to increase the potential to generate robust outcomes and development of standardised biorepository collection and reporting structures for multi-omic studies.

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Section: Introductionmentioning

confidence: 99%

A scoping review and proposed workflow for multi-omic rare disease research

Kerr¹,

McAneney²,

Smyth³

et al. 2020

Orphanet J Rare Dis

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“…27 In conclusion, pediatric sarcoidosis is a challenging diagnosis due to the lack of specific signs and symptoms that mimics other diseases. 32 Although rare in children, sarcoidosis should be considered in the differential diagnosis in the case of diseases with multiorgan involvement such as lymphadenopathy, hepatosplenomegaly and cytopenia associated with systemic symptoms such as fever, even in the absence of pulmonary involvement and after the exclusion of other diseases.…”

Section: Discussionmentioning

confidence: 99%

Prolonged fever, pancytopenia, and splenomegaly - is it sarcoidosis?

et al. 2023

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Childhood Sarcoidosis is a chronic multisystem pinflammatory disease of unknown etiology. We report a case of a 9-year-old female who presented with nasal bleeding. She started with fever that persisted for 24 days associated with progressive splenomegaly, pancytopenia, and generalized lymphadenopathy. An extensive investigation was performed excluding infectious, neoplastic, autoimmune and immunodeficiency causes. Histological examination of a lymph node revealed multiple non-caseous granulomas, which together with the elevation of ACE and multiorgan involvement, suggested the diagnosis of sarcoidosis. She started oral prednisolone and after 4-month of follow-up there was a significant clinical and analytic improvement. This case represents a challenging diagnosis of an uncommon pediatric disease that should be considered in the differential diagnosis of a multisystemic disease with constitutional symptoms even in the absence of pulmonary involvement.

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“…Few cases of typical sarcoidosis have been described under the age of 20 years [29]. One case report [30] presents the diagnosis of pediatric-onset adult sarcoidosis, with lung, liver and lymph nodes involvement. The 9-year-old patient presented with asthenia, weight loss, hepatosplenomegaly and 2 palpable lymph nodes (supraclavicular and inguinal).…”

Section: Clinical Aspects Of Hepatic Sarcoidosismentioning

confidence: 99%

Particularities of Hepatic Sarcoidosis

Iliescu¹,

Toma²

2020

Sarcoidosis and Granulomatosis - Diagnosis and Management

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Liver sarcoidosis is usually an underdiagnosed disease, which can have severe implications in the evolution of a patient. Due to the fact that sarcoidosis is a disease based on immunological disorders, it is only natural that the liver should be one of the first organs to be affected. The imaging of liver sarcoidosis is of marked importance, especially in the differential diagnosis of the disease. While the histology aspect of sarcoidosis is relatively clear and should prompt a positive diagnosis, finding a liver granuloma in ultrasonography raises a multitude of questions and implies extensive testing for diagnosis. Furthermore, treatment of liver sarcoidosis is controversial, taking into account the possibility of developing end-stage liver disease in patients with a long history of sarcoidosis. This chapter aims to review diagnostic and treatment options for liver sarcoidosis and to determine the best management of these patients.

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Common symptoms for a rare disease in a girl with sarcoidosis: a case report

Cited by 5 publications

References 26 publications

A scoping review and proposed workflow for multi-omic rare disease research

A scoping review and proposed workflow for multi-omic rare disease research

Prolonged fever, pancytopenia, and splenomegaly - is it sarcoidosis?

Particularities of Hepatic Sarcoidosis

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