Gaucher\'s disease (GD) is a lysosomal storage disorder characterized by the storage of glucosylceramide in macrophages (\"Gaucher cells\"), mainly in the reticuloendothelial system. GD type 1 (GD1) is the most common phenotype that usually manifests with hepatosplenomegaly, cytopenias, and bone involvement. Skeletal manifestations are the most debilitating characteristic and result in significant morbidities. We describe a case of GD1, first presented by a nontraumatic bone fracture. The case presentation highlights the importance of considering GD among the differential diagnosis of nontraumatic fractures, avascular necrosis, and infarcts of the bones. Early diagnosis and treatment improve the course of disease and avoid irreversible sequelae.

This case report describes a patient initially diagnosed with Gaucher disease (GD) with type I with homozygous mutation c.1448T > C p. (Leu483Pro) at age of 2, presenting with hepatosplenomegaly and cytopenia. Imiglucerase replacement therapy was initiated. At age 17, bilateral hearing loss developed, with subsequent Cranial MRI revealing thalamic damage, leading to a reclassification as type 3 GD. By age of 20, the patient presented with a range of symptoms, including abdominal pain, diarrhea, hypoproteinemia, multiple lymphadenopathy, edema, and Gaucher cell infiltration in the lymph nodes. Comprehensive diagnosis identifies Gaucher tumor and protein-losing enteropathy. Imiglucerase therapy at 90-120 U/kg every 2 weeks significantly improved clinical symptoms, emphasizing the importance of tailored interventions for managing GD manifestations.

A 44-year-old female presented with a distended abdomen and fatigue. On physical examination, prominent splenomegaly was found. The laboratory investigations revealed pancytopenia and decreased albumin-globulin ratio. The abdominal ultrasonography revealed splenomegaly, cholelithiasis, and cystitis, and the bone survey showed osteopenia. Differential diagnoses included leukemia, multiple myeloma, and myelofibrosis therefore bone marrow puncture was performed. However, histopathologic examination found Gaucher-like cells in the bone marrow aspiration. The finding of CD68 positivity in Gaucher-like cells by using the immunohistochemistry staining supporting Gaucher disease. To confirm the diagnosis, an examination of glucocerebroside substrate from the patient\'s blood plasma was performed. Glucosylsphingosine, a deacylated form of glucosylceramide, was markedly elevated. Therefore, the diagnosis of Gaucher disease was confirmed. This is the first reported adult Gaucher case diagnosed in Indonesia.

Gaucher disease (GD) is a lysosomal storage disorder caused by a deficiency in the GBA1-encoded enzyme, β-glucocerebrosidase. Enzyme replacement therapy is ineffective for neuronopathic Gaucher disease (nGD). High-dose ambroxol has been administered as an alternative treatment for a group of patients with nGD. However, little is known about the clinical indication and the long-term outcome of patients after ambroxol therapy. We herein report a case of a female patient who presented with a progressive disease of GD type 2 from 11 months of age and had the pathogenic variants of p.L483P (formerly defined as p.L444P) and p.R502H (p.R463H) in GBA1. A combined treatment of imiglucerase with ambroxol started improving the patient\'s motor activity in 1 week, while it kept the long-lasting effect of preventing the deteriorating phenotype for 30 months. A literature review identified 40 patients with nGD, who had received high-dose ambroxol therapy. More than 65% of these patients favorably responded to the molecular chaperone therapy, irrespective of p.L483P homozygous, heterozygous or the other genotypes. These results highlight the long-lasting effect of ambroxol-based chaperone therapy for patients with an expanding spectrum of mutations in GBA1.

BACKGROUND: Gaucher disease (GD) is a lysosomal storage disease that leads to the accumulation of glucocerebroside within reticuloendothelial cells, haematological, neurological, skeletal and abdominal organs. These clinical manifestations are common to all types of GD, but categorization depends on the absence of neurological involvement (type I) or its presence (type II and III). Cardiac involvement is rare and only reported in few cases, where valvular and aortic calcifications were associated with type IIIc. Other cardiac manifestations, such as constrictive pericarditis, pulmonary hypertension, myocardial infiltration, and restrictive cardiomyopathy, had also been reported.
METHODS: We report a case of a 72-year-old patient with known type 1 GD who presented with a sudden syncope during exercise. He reported also an exercise intolerance evolving for three months. Echocardiography found concentric left ventricular hypertrophy with segmental hypokinesis, bi-atrial enlargement, and mildly reduced ejection fraction. Mitral flow was in favour of grade II diastolic dysfunction with elevated filling pressure. Cardiac magnetic resonance (CMR) showed interstitial fibrosis in the basal infero-septal wall, probably due to the myocardial infiltration of GD. Due to the lack of echocardiographic and CMR hallmarks of cardiac GD, we conducted a literature review on similar findings.
CONCLUSIONS: This case illustrates the importance of non-invasive cardiac imaging in the diagnosis, prognosis and management of cardiac manifestations of GD.

Gaucher disease (GD) is an autosomal recessive ailment resulting from glucocerebrosidase deficiency caused by a mutation in the GBA1 gene, leading to multi-organ problems in the liver, spleen, and bone marrow. In China, GD is extremely uncommon and has a lower incidence rate than worldwide. In this study, we report the case of an adult male with an enlarged spleen for 13 years who presented with abdominal distension, severe loss of appetite and weight, reduction of the three-line due to hypersplenism, frequent nosebleeds, and bloody stools. Regrettably, the unexpected discovery of splenic pathology suggestive of splenic Gaucher disease was only made after a splenectomy due to a lack of knowledge about rare disorders. Our patient\'s delayed diagnosis may have been due to the department where he was originally treated, but it highlights the need for multidisciplinary consultation in splenomegaly of unknown etiology. We then investigated the patient\'s clinical phenotypes and gene mutation features using genetically phenotypical analysis. The analysis of the GBA1 gene sequence indicated that the patient carried a compound heterozygous mutation consisting of two potentially disease-causing mutations: c.907C > A (p. Leu303Ile) and c.1448 T > C (p. Leu483Pro). While previous research has linked the p. Leu483Pro mutation site to neurologic GD phenotypes (GD2 and GD3), the patients in this investigation were identified as having non-neuronopathic GD1. The other mutation, p. Leu303Ile, is a new GD-related mutation not indexed in PubMed that enriches the GBA1 gene mutation spectrum. Biosignature analysis has shown that both mutations alter the protein\'s three-dimensional structure, which may be a pathogenic mechanism for GD1 in this patient.

Gaucher disease (GD) is a recessive autosomal lysosomal storage disorder caused by a deficiency in glucocerebrosidase, leading to the accumulation of undigested glycolipids in the lysosomes of monocytes and macrophages. Patients with GD exhibit a spectrum of phenotypic heterogeneity and are broadly classified into three subtypes. Type 1 is the most common and is not associated with neurological damage, while types 2 and 3 are more severe, presenting with acute neuropathic and subacute neuropathic symptoms, respectively. A thorough accurate initial multisystemic assessment is crucial for evaluating the damage to all potentially affected organs and determining the disease burden. This case report highlights the intricacies of GD type 1 by providing a thorough exploration of the clinical presentation and showcasing valuable insights into the unique manifestations of the disease. The key feature was his individual and family medical history, which allowed the identification and treatment of another case within the community.

This report presents a case of childhood Gaucher disease type 1, a rare inherited metabolic disorder. Although the clinical symptoms were classical, the histological findings in this case were atypical and initially led to diagnostic uncertainty. The pathognomonic histological finding on bone marrow is Gaucher cells, which are lipid-engorged phagocytes secondary to the accumulation of glucosylceramide. These cells typically demonstrate diffuse and avid iron staining using a Prussian blue iron stain. In this case, although the histiocytes seen on bone marrow were abnormal, the absence of iron staining on bone marrow led to a large range of other diagnoses being considered. In retrospect, this anomaly was likely in the setting of prolonged iron deficiency and anaemia as a result of the insidious nature of this presentation. The prognosis of type 1 Gaucher disease is favourable, with current treatments significantly improving duration and quality of life. We explore the utility of a collaborative multidisciplinary approach in addressing diagnostic uncertainty and the importance in making a diagnosis for Gaucher disease type 1 in order to provide appropriate and targeted treatment.

Gaucher disease (GD) is a rare autosomal recessive inherited, lysosomal storage disoder that involves liver, spleen, lung, bone, bone marrow even central nervous. However, GD associated membranoproliferative glomerulonephritis (MPGN) is seldom reported.
Here we described a case of 35-year-old man suffering from GD with hepatosplenomegaly, ascites, bone destruction, myelofibrosis and MPGN. Renal biopsy revealed MPGN and Gaucher cells presented in the glomeruli capillaries. β-glucosidase activity was 1.95nmol/1 h/mg and gene detection demonstrated that one homozygous pathogenic variant Leu483Pro in GBA. He received the treatment of oral prednisone and mycophenolate mofetil and his ascites and renal outcomes had been significantly improved.
Therapy of prednisone and mycophenolate mofetil may be an optional choice for patients with Gaucher disease who have no opportunity to use enzyme treatment.

Hematological abnormalities are the most common early symptoms of Gaucher disease (GD), with an increased risk of hematopoietic system malignancies reported in patients with GD. GD may be associated with monoclonal and polyclonal gammopathies; however, the mechanism of association of GD with multiple myeloma (MM) remains uncertain. Enzyme replacement therapy (ERT) has been shown to improve patients\' cytopenia and it seems to facilitate anti-myeloma therapy in patients with co-occurring GD and MM. Although it is necessary to demonstrate the deficiency of enzymatic activity, as well as using genetic tests to finally diagnose GD, due to changes in the blood count image, bone marrow biopsy is still a frequent element of the GD diagnosis procedure. The diagnosis of GD is often delayed, mainly due to the heterogeneity of the histopathological picture of bone marrow biopsy or overlapping hematological abnormalities. Unrecognized and untreated GD worsens the response of a patient with an oncological disease to targeted treatment. We present a literature review, inspired by the case of a Caucasian patient initially diagnosed with MM and later confirmed with comorbid GD type 1 (GD1). We would like to point out the problem of underdiagnosis and delay in patients with GD.