Severe cardiac involvement in Gaucher type IIIC: a case report and review of the literature

2017 ◽  
Vol 27 (7) ◽  
pp. 1426-1429 ◽  
Author(s):  
Yılmaz Kör ◽  
Mehmet Keskin ◽  
Osman Başpınar
Keyword(s):  
Gaucher Disease ◽  
Autosomal Recessive ◽  
Cardiac Involvement ◽  
Late Onset ◽  
Neurological Symptoms ◽  
Type I ◽  
Lysosomal Storage ◽  
Cardiovascular Involvement ◽  
Eye Movement Disorders ◽  
Type Iiic

AbstractGaucher disease is an autosomal-recessive lysosomal storage disease characterised by the accumulation of glucocerebroside in macrophages; it is caused by mutations in glucocerebrosidase gene-1 in many organ tissues such as the liver, spleen, and bone marrow. Its different clinical subtypes, according to the presence and severity of neurological symptoms, are as follows: type I, non-neuronopathic (95%); type II, acute neuronopathic; and type III, chronic neuronopathic. Type IIIC is a rare subgroup characterised by cardiovascular involvement as well as eye-movement disorders and late-onset neurological symptoms. In such cases, homozygous D409H is the most frequently detected mutation. In this article, we report the case of a patient, aged 15 years and 8 months, with complaints of syncope and a diagnosis of type IIIC Gaucher disease.

scholarly journals Cardiovascular involvement in alpha-n-acetyl neuraminidase deficiency syndromes (sialidosis type I and II)

2021 ◽  
pp. 1-3
Author(s):  
Priyanka Prasanna ◽  
Chenni S. Sriram ◽  
Sarah H. Rodriguez ◽  
Utkarsh Kohli
Keyword(s):  
Autosomal Recessive ◽  
Ventricular Dysfunction ◽  
Clinical Presentation ◽  
Clinical Course ◽  
Rare Condition ◽  
Autosomal Recessive Disorder ◽  
Left Ventricular ◽  
Type I ◽  
Neonatal Onset ◽  
Cardiovascular Involvement

Abstract Sialidosis, a rare autosomal recessive disorder, is caused by a deficiency of NEU1 encoded enzyme alpha-N-acetyl neuraminidase. We report a premature male with neonatal-onset type II sialidosis which was associated with left ventricular dysfunction. The clinical presentation and subsequent progression which culminated in his untimely death at 16 months of age are succinctly described. Early-onset cardiovascular involvement as noted in this patient is not well characterised. The case report is supplemented by a comprehensive review of the determinants, characteristics, and the clinical course of cardiovascular involvement in this rare condition.

scholarly journals Eye movement disorders and neurological symptoms in late-onset inborn errors of metabolism

2018 ◽  
Vol 33 (12) ◽  
pp. 1844-1856 ◽  
Author(s):  
Lisette H. Koens ◽  
Marina A.J. Tijssen ◽  
Fiete Lange ◽  
Bruce H.R. Wolffenbuttel ◽  
Alessandra Rufa ◽  
...  
Keyword(s):  
Eye Movement ◽  
Movement Disorders ◽  
Inborn Errors Of Metabolism ◽  
Late Onset ◽  
Neurological Symptoms ◽  
Inborn Errors ◽  
Eye Movement Disorders

scholarly journals Neurodegenerative Disease Risk in Carriers of Autosomal Recessive Disease

2021 ◽  
Vol 12 ◽  
Author(s):  
Sophia R. L. Vieira ◽  
Huw R. Morris
Keyword(s):  
Genetic Risk ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Disease Risk ◽  
Late Onset ◽  
Gene Mutations ◽  
Carrier Status ◽  
Lysosomal Storage ◽  
Increased Risk ◽  
Distinct Allele

Genetics has driven significant discoveries in the field of neurodegenerative diseases (NDDs). An emerging theme in neurodegeneration warrants an urgent and comprehensive update: that carrier status of early-onset autosomal recessive (AR) disease, typically considered benign, is associated with an increased risk of a spectrum of late-onset NDDs. Glucosylceramidase beta (GBA1) gene mutations, responsible for the AR lysosomal storage disorder Gaucher disease, are a prominent example of this principle, having been identified as an important genetic risk factor for Parkinson disease. Genetic analyses have revealed further examples, notably GRN, TREM2, EIF2AK3, and several other LSD and mitochondria function genes. In this Review, we discuss the evidence supporting the strikingly distinct allele-dependent clinical phenotypes observed in carriers of such gene mutations and its impact on the wider field of neurodegeneration.

scholarly journals REDUCED DOSING REGIMEN OF ENZYME REPLACEMENT THERAPY IN ADULT PATIENTS WITH TYPE I GAUCHER DISEASE: PRELIMINARY RESULTS

2019 ◽  
Vol 64 (3) ◽  
pp. 331-341 ◽  
Author(s):  
R. V. Ponomarev ◽  
K. A. Lukina ◽  
E. P. Sysoeva ◽  
R. B. Chavynchak ◽  
A. A. Solovyeva ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Gaucher Disease ◽  
Lysosomal Storage Diseases ◽  
Adult Patients ◽  
Type I ◽  
Treatment Goals ◽  
Lysosomal Storage ◽  
Current Standard ◽  
Enzyme Replacement

Introduction. Gaucher disease (GD) belongs to the group of lysosomal storage diseases. Enzyme replacement therapy (ERT) is considered to be the current standard in GD treatment. No reduced ERT regimen has thus far been developed. Aim. To develop an optimal reduced ERT regimen for adult patients with type I GD, which is scientifically and economically viable.Materials and methods. The study included 100 adult patients with type I GD who achieved treatment goals following at least two years of the standard ERT regimen. Patients were prescribed a reduced ERT regimen, which consisted in increasing the interval between the infusions of the recombinant enzyme up to 4 weeks, at a dose of 15–20 units/kg of body weight. The efficacy of the reduced ERT regimen was assessed once every 12 months according to main GD parameters. The follow-up period in the study ranged from 12 to 36 months.Results. The patients with type I GD who achieved treatment goals following the standard ERT regimen and were then prescribed a reduced ERT regimen retained a stable therapeutic effect of the initial treatment according to all parameters: no clinically significant differences found in haemoglobin and platelet levels, spleen size and specific infiltration of femur bone marrow.Conclusion. An increase in the intervals between infusions of the recombinant glucocerebrosidase up to 4 weeks for 12, 24 and 36 months did not lead to worsening of the laboratory and instrumental parameters associated with GD. 

scholarly journals Gaucher Disease Type I: A Case Report

2020 ◽  
Vol 47 (3) ◽  
pp. 22-25
Author(s):  
D. Nikolova ◽  
A. Yordanov ◽  
V. Damyanova ◽  
A. Yavorova ◽  
A. Radinov
Keyword(s):  
Gaucher Disease ◽  
Clinical Symptoms ◽  
Systemic Disease ◽  
Disease Type ◽  
Type I ◽  
Lysosomal Storage ◽  
Laboratory Findings ◽  
Enzyme Replacement ◽  
Targeted Analysis ◽  
Laboratory Test Results

AbstractGaucher disease (GD) is a multi-systemic disease with a low population frequency. It is a lysosomal storage disorder (LSD) that causes accumulation of glucocerebroside in the so called Gaucher cells predominantly in areas like the spleen, liver and bone marrow. Type I GD (GDI) is the most common form and usually does not involve the brain and the spinal cord. The symptoms can range from mild to severe and may appear anytime from childhood to adulthood. Diagnostics can often be challenging and imposes looking at person’s medical history, symptoms, physical exam, and laboratory test results. We present a difficult to diagnose case of a 34-year-old woman admitted to the Clinic of Hematology, “Sv. I. Rilski” hospital with splenomegaly, normal laboratory findings and non-enlarged liver. She didn’t show focal neurological symptoms. A series of tests were assigned including genetic targeted analysis. The case is an example of a rare genetic disease with mild clinical symptoms. Diagnosis of Gaucher disease, type I was confirmed by measurement of a GBA enzyme activity and identification of mutations in the GBA gene inherited in an autosomal recessive manner. Thanks to the efforts of the clinical team, the assignment of adequate clinical and laboratory tests and their correct interpretation, the patient was subjected to enzyme replacement therapy (ERT). Although the diagnosis was settled relatively late (at 34 years of age), the correct therapy slowed down the invalidation and improved the quality of life of the patient.

scholarly journals Methodology for Generating Datasets with Characteristic Diagnostic Parameters of Rare Diseases Using the Example of Pompe Disease, Gaucher Disease and Smith-Lemli-Opitz Syndrome

2021 ◽  
Author(s):  
Ann-Christin Liebers-Kyungay ◽  
Klaus Mohnike ◽  
Corine van Lingen ◽  
Anita Bressan ◽  
Katja Palm ◽  
...  
Keyword(s):  
Rare Diseases ◽  
Pompe Disease ◽  
Gaucher Disease ◽  
Late Onset ◽  
Disease Type ◽  
Data Sets ◽  
Type I ◽  
Human Phenotype ◽  
Diagnostic Parameters ◽  
Opitz Syndrome

Abstract BackgroundFinding a diagnosis for rare diseases is a challenge for patients and those treating them. Establishing a uniform methodology for specifying the symptoms of a patient seems useful. This, as well as a database with clinical parameters reported in patients already diagnosed with the corresponding disease or that have led to the diagnosis, would facilitate the global data exchange between specialists and subsequently diagnosis. The aim of this work is to develop standardized data sets with the most frequent symptoms exemplarily for the three rare diseases late-onset Pompe disease, Gaucher disease Type I and Smith-Lemli-Opitz syndrome (SLOS).Methods and resultsA systematic literature review of characteristic symptoms and diagnostic criteria was performed for each of the three disorders. These parameters were converted into vocabulary standardized by The Human Phenotype Ontology (HPO), so-called HPO terms. Subsequently, a retrospective analysis of the patient files of 23 late-onset Pompe disease patients, 21 Gaucher disease Type I patients and 25 SLOS patients was carried out together with the University Children's Hospital Magdeburg and the Center of excellence for Rare Metabolic Diseases at the Charité Berlin. Features present in ≥ 40 % of the cohort and collected simultaneously in a certain minimum number of patients were filtered out. The analysis resulted in data sets with 20 diagnostic parameters for late-onset Pompe disease, 16 features for Gaucher disease Type I and 17 parameters for SLOS. After the statistical evaluation, the results were discussed comparatively with similar studies exemplarily for SLOS.ConclusionThe developed datasets for the three diseases provide a good basis for expansion with further patient examples and for extending the methodology to other diseases with the aim of improving the diagnostic pathway and thus the health care of patients with rare diseases.

scholarly journals M Mode Ultrasound and Tissue Doppler Imaging to Assess Diaphragm Feature in Late Onset Pompe Disease

2020 ◽  
Vol 12 (3) ◽  
pp. 55-58
Author(s):  
Paris Meng ◽  
Adam Ogna ◽  
Abdallah Fayssoil
Keyword(s):  
Tissue Doppler Imaging ◽  
Pompe Disease ◽  
Autosomal Recessive ◽  
Storage Disease ◽  
Late Onset ◽  
Tissue Doppler ◽  
Doppler Imaging ◽  
Supportive Treatment ◽  
Lysosomal Storage ◽  
Diaphragm Weakness

Late-onset Pompe disease (LOPD) is an autosomal recessive lysosomal storage disease. Clinical features include skeletal muscle deficiency and diaphragm weakness. Clinical management relies on supportive treatment and mechanical ventilation in patients with chronic respiratory failure. M mode ultrasound and sniff tissue Doppler imaging can be used to assess and follow diaphragm function.

scholarly journals From Symptoms and Signs to Diagnosis in a Rare Disease, Type I Gaucher Disease

2018 ◽  
Vol 15 (1) ◽  
pp. 69-76
Author(s):  
Mihaela Ghinea ◽  
Sabina Ciocodei ◽  
Gabriela Butoi ◽  
Geandan Memet ◽  
Andreea Stoica ◽  
...  
Keyword(s):  
Laboratory Testing ◽  
Gaucher Disease ◽  
Storage Disease ◽  
Disease Type ◽  
Genetic Mutations ◽  
Type I ◽  
Lysosomal Storage ◽  
Specific Enzyme ◽  
Enzyme Replacement ◽  
Symptoms And Signs

AbstractGaucher disease is the most frequent lysosomal storage disease, caused by the deficiency of an enzyme called β-glucocerebrosidase. Three types of Gaucher disease are described. Type I Gaucher disease benefits from lifelong enzyme replacement therapy with imiglucerase.Herein, we present the case of a 34-year-old female patient, a commercial worker, who was admitted to our Department of Haematology in the Emergency Clinical Hospital of Constanta in order to investigate the aetiology of a persistent splenomegaly. Clinical examination and laboratory testing evidenced the following: splenomegaly, hepatomegaly, anaemia, leukopenia and neutropenia, thrombocytopenia, and a myelogram showing Gaucher cells. In this context, the suspicion of Gaucher disease was raised and the investigations were further completed through specific enzyme testing and genetic testing. The low values of lysosomal enzymes, coupled with the detection of two specific genetic mutations confirmed the diagnosis of Gaucher disease.In January 2017, treatment with 2400U of imiglucerase in intravenous perfusion every two weeks was begun.

scholarly journals Gaucher Disease: Case Report

2021 ◽  
Keyword(s):  
Gaucher Disease ◽  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Autosomal Recessive Inheritance ◽  
Lysosomal Storage ◽  
Enzyme Replacement ◽  
Disease Case ◽  
Gaucher Disease Type 1 ◽  
The Common

Gaucher disease is the most common lysosomal storage disease. It is marked by deficient glucocerebrosidase enzyme activity, leading to elective accumulation of its substrate in the lysosomes of macrophages. Macrophages are most often deposited in the liver, spleen and bone marrow, creating typical symptomatology in these organs. It is a genetic disorder with autosomal recessive inheritance pattern. The extent of the damage and severity of the symptoms increase in proportion to the genetic damage in the culprit gene, GBA1. As a result, the symptoms and course of the disease may range from mild to quite acute, with potential death of the patient at a young age. Case: Patient, 29, was diagnosed with Gaucher disease type 1 and underwent enzyme replacement therapy, with satisfactory response. Along with the common symptoms of the disease, he had also developed the rare Erlenmeyer flask deformity.

scholarly journals Migalastat Treatment in a Kidney-Transplanted Patient with Fabry Disease and N215S Mutation: The First Case Report

2021 ◽  
Vol 14 (12) ◽  
pp. 1304
Author(s):  
Valeria Di Stefano ◽  
Marta Mancarella ◽  
Antonia Camporeale ◽  
Anna Regalia ◽  
Marta Ferraresi ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Cardiac Involvement ◽  
Late Onset ◽  
Left Ventricular ◽  
Lysosomal Storage ◽  
Fabry Patient ◽  
First Case ◽  
Gla Gene ◽  
Stage Renal Disease ◽  
End Stage

Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient α-galactosidase A activity and, consequently, to glycosphingolipid accumulation in a wide variety of cells. Fabry disease due to N215S (c.644A>G, p.Asn215Ser) missense mutation usually results in a late-onset phenotype presenting with isolated cardiac involvement. We herein present the case of a patient with N215S mutation with cardiac involvement, namely left ventricular hypertrophy and ventricular arrhythmias, and end-stage renal disease requiring kidney transplantation. To the best of our knowledge, this is the first report of a kidney-transplanted Fabry patient treated with oral pharmacologic chaperone migalastat.

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