Jaw involvement in Gaucher disease: a not-so-uncommon feature of a rare disease

2021 ◽  
Vol 14 (11) ◽  
pp. e244298
Author(s):  
Simona D'Amore ◽  
Navdeep Kumar ◽  
Uma Ramaswami
Keyword(s):  
Gaucher Disease ◽  
Clinical Presentation ◽  
Age Of Onset ◽  
Radiological Features ◽  
Bone Marrow Disease ◽  
History Of ◽  
Severity Of The Disease ◽  
Bone Abnormalities

Gaucher disease is an inborn error of metabolism resulting from the deficiency of the enzyme glucocerebrosidase and consequent accumulation of glucocerebroside within the lysosomes of macrophages. The clinical presentation is very diverse, depending on the age of onset and the severity of the disease, and results from the progressive infiltration of lipid-laden cells in various organs. Common manifestations of Gaucher disease include enlarged liver and/or spleen (hepatosplenomegaly), bone marrow disease (pancytopenia) and bone abnormalities, which are extremely variable and can affect multiple skeletal sites. While bone involvement of long bones and vertebrae is a well-recognised feature of Gaucher disease, jawbone involvement is less commonly noted. Here, we describe a case of a 63-year-old patient with type 1 Gaucher disease with a history of long-term use of bisphosphonates and who had presented with dental pain, with subsequent investigations confirming the radiological features of jaw involvement in Gaucher disease, including periodontal disease.

Long-term follow-up of 103 untreated adult patients with type 1 Gaucher disease

2019 ◽  
Vol 126 (2) ◽  
pp. S49
Author(s):  
Tama Dinur ◽  
Ari Zimran ◽  
Michal Becker Cohen ◽  
David Arkadir ◽  
Claudia Cozma ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Adult Patients ◽  
Long Term Follow Up ◽  
Type 1 Gaucher Disease

scholarly journals Long Term Follow-Up of 103 Untreated Adult Patients with Type 1 Gaucher Disease

2019 ◽  
Vol 8 (10) ◽  
pp. 1662 ◽  
Author(s):  
Dinur ◽  
Zimran ◽  
Becker-Cohen ◽  
Arkadir ◽  
Cozma ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Substrate Reduction Therapy ◽  
Type I ◽  
Specific Therapy ◽  
Substrate Reduction ◽  
Long Term Follow Up ◽  
Disease Specific

The introduction of disease-specific therapy for patients with type I Gaucher disease (GD1) was a revolution in the management of patients, but not without cost. Thus, the management of mildly affected patients is still debated. We herein report a long-term follow-up (median (range) of 20 (5–58) years) of 103 GD1 patients who have never received enzymatic or substrate reduction therapy. The median (range) platelet count and hemoglobin levels in last assessment of all but six patients who refused therapy (although recommended and approved) were 152 (56–408) × 103/mL and 13.1 (7.6–16.8) g/dL, respectively. Most patients had mild hepatosplenomegaly. Nine patients were splenectomized. No patient developed clinical bone disease. The median (range) lyso-Gb1 levels at last visit was 108.5 (8.1–711) ng/mL; lowest for patients with R496H/other and highest for patients refusing therapy. This rather large cohort with long follow-up confirms that mildly affected patients may remain stable for many years without GD-specific therapy. The challenge for the future, when newborn screening may detect all patients, is to be able to predict which of the early diagnosed patients is at risk for disease-related complications and therefore for early treatment, and who may remain asymptomatic or minimally affected with no need for disease-specific therapy.

Retrospective Analysis of Whole-Body Magnetic Resonance Imaging of Bone Manifestations in Long-Term Treated Patients with Gaucher Disease Type 1

2018 ◽  
Vol 231 (02) ◽  
pp. 52-59
Author(s):  
André Lollert ◽  
Katharina Laudemann ◽  
Eugen Mengel ◽  
Christian Hoffmann ◽  
Larissa Moos ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Gaucher Disease ◽  
Disease Type ◽  
Whole Body ◽  
Enzyme Replacement ◽  
Gaucher Disease Type 1 ◽  
Body Magnetic Resonance Imaging

Abstract Purpose We retrospectively assessed bone and visceral manifestations in patients with Gaucher disease type 1 (GD1) with whole-body magnetic resonance imaging (WB-MRI) to determine the effects of different timing in initiating long-term enzyme replacement therapy. Materials and Methods In 17 patients with GD1, we performed 2 WB-MRI examinations at a median interval of 13 months. Patients had received enzyme replacement therapy with alglucerase/imiglucerase for a median of 13 years prior to the first examination. MRI results were retrospectively stratified based on treatment initiation into 2 groups: “early” (age ≤12 years, median 5 years) and “late” (during adulthood, median 32 years). We evaluated occurrence of irreversible avascular necroses (AVN) and applied several semi-quantitative scores, including the Bone-Marrow-Burden (BMB) score, the Düsseldorf-Gaucher score (DGS), the Vertebra-Disc-Ratio (VDR), and the Gaucher disease type 1 Severity Scoring System (GD-DS3). Results MRI assessments showed no AVN in the “early” group. AVN were observed in 2 patients of the “late” group; one also had a splenic Gaucheroma. The follow-up examinations showed slight improvements in the BMB-score, DGS, and VDR, with similar tendencies in both treatment groups. The GD-DS3 score only improved in “late” group. Conclusion This retrospective study supported the ongoing clinical value of enzyme replacement therapy with alglucerase/imiglucerase, as WB-MRI-based scores stayed constant or slightly improved even after long-term treatment. Secondary complications were only observed in the late treatment group. Our results suggest that “early initiation” of enzyme replacement therapy may protect the bone.

Long-term adverse event profile from four completed trials of oral eliglustat in adults with Gaucher disease type 1

2018 ◽  
Vol 123 (2) ◽  
pp. S116 ◽  
Author(s):  
M. Judith Peterschmitt ◽  
Audrey Hou ◽  
Lisa H. Underhill ◽  
Yaoshi Wu ◽  
Sebastiaan J.M. Gaemers
Keyword(s):  
Adverse Event ◽  
Gaucher Disease ◽  
Disease Type ◽  
Adverse Event Profile ◽  
Gaucher Disease Type 1

scholarly journals Comparative Analysis of the Clinical Features and Long-Term Outcomes of Pachychoroid Neovasculopathy and Type 1 Neovascular Age-Related Macular Degeneration

2020 ◽  
Vol 2020 ◽  
pp. 1-6
Author(s):  
Jong In You ◽  
Kiyoung Kim
Keyword(s):  
Macular Degeneration ◽  
Age Related Macular Degeneration ◽  
Long Term Outcomes ◽  
Age Related ◽  
Treatment Naïve ◽  
History Of ◽  
Pachychoroid Neovasculopathy

Purpose. To evaluate the clinical characteristics and long-term prognosis of pachychoroid neovasculopathy (PCN) when compared with type 1 neovascular age-related macular degeneration (nAMD). Methods. We retrospectively analyzed 30 and 60 patients whose eyes were diagnosed as treatment-naïve PCN or type 1 nAMD, respectively. All subjects were followed up for 5 years. Baseline angiographic characteristics and long-term clinical outcomes were compared between the two groups. Results. PCN group consisted of patients of younger age and represented more choroidal vascular hyperpermeability, polypoidal lesion, and history of central serous chorioretinopathy (CSC) at the time of diagnosis (all p  < 0.01). During the 5-year follow-up period, individuals in the PCN group received significantly fewer injections and reported better visual acuity compared to individuals in the type 1 nAMD group. A progressive decrease in the subfoveal choroidal thickness was observed in the type 1 nAMD group, while the thick choroid was maintained in the PCN group during the 5-year follow-up period. Conclusions. PCN developed in younger patients with a higher propensity of forming polypoidal lesions and a history of CSC. Long-term outcomes revealed that PCN had a thicker choroid and better visual prognosis with fewer number of intravitreal injection than that of type 1 nAMD.

Brain metastasis of Wilms tumor with diffuse anaplasia and complex cytogenetic phenotype in a child with neurofibromatosis Type 1

2011 ◽  
Vol 8 (4) ◽  
pp. 353-356
Author(s):  
Marianna Shvartsbeyn ◽  
Luigi Bassani ◽  
Irina Mikolaenko ◽  
Jeffrey H. Wisoff
Keyword(s):  
Brain Metastasis ◽  
Neurofibromatosis Type 1 ◽  
Wilms Tumor ◽  
Metastatic Tumor ◽  
Neurofibromatosis Type ◽  
Radiological Features ◽  
First Case ◽  
History Of ◽  
The Brain

The authors report the first case of a Wilms tumor (WT) with diffuse anaplasia metastatic to the brain in a 13-year-old girl with a history of neurofibromatosis Type 1. At presentation, the metastatic tumor had radiological features that suggested a meningioma. Histologically it was characterized by striking anaplasia and features similar to the patient's previously resected WT with diffuse anaplasia.

scholarly journals Giant Endometrial Polyp in a Postmenopausal Woman without Hormone/Drug Use and Vaginal Bleeding

2014 ◽  
Vol 2014 ◽  
pp. 1-4
Author(s):  
Betül Ünal ◽  
Selen Doğan ◽  
Fatma Şeyda Karaveli ◽  
Tayup Şimşek ◽  
Gülgün Erdoğan ◽  
...  
Keyword(s):  
Postmenopausal Woman ◽  
Drug Use ◽  
Vaginal Bleeding ◽  
Clinical Presentation ◽  
Histopathological Examination ◽  
Uterine Cavity ◽  
Endometrial Polyp ◽  
Lower Back ◽  
History Of

The objective of this study is to determine and discuss the causes of a giant endometrial polyp in a postmenopausal woman without hormone/drug use and to submit interesting clinical presentation. Here we report a seventy-year-old female patient who was admitted to our hospital with lower back pain. There were no other complaints from her. Physical examination was normal. For further examination, computed tomography was performed and a heterogeneous mass, with a diameter of 10×9 centimeters, was detected in the uterine cavity. Hysterectomy because of suspected endometrial cancer was performed. Histopathological examination showed us a giant endometrial polyp with edematous and focal fibrotic stroma, large thick walled blood vessels between normal sized and cystically dilated endometrial glands. To the best of our knowledge, this is the first report of a giant endometrial polyp which is unrelated to use of drugs such as tamoxifen and raloxifene; however, based on the history of the patient it may be associated with long-term consumption of thyme, which is a kind of phytoestrogen.

scholarly journals Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Tim Phetthong ◽  
Thipwimol Tim-Aroon ◽  
Arthaporn Khongkraparn ◽  
Saisuda Noojarern ◽  
Chulaluck Kuptanon ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Age Of Onset ◽  
Lysosomal Storage ◽  
Pathogenic Variants ◽  
Medical Centers ◽  
Neurologic Involvement ◽  
Therapeutic Research ◽  
Type 3

Abstract Background Gaucher disease (GD) is a rare lysosomal storage disorder, characterized by hepatosplenomegaly and pancytopenia, with or without neurologic involvement. The disorder is categorized into three phenotypes: GD type 1 or nonneuronopathic GD; GD type 2 or acute neuronopathic GD; and GD type 3 or chronic neuronopathic GD. The purposes of this study were to describe clinical characteristics of Thai GD in patients diagnosed and/or followed up during 2010–2018 and to perform re-genotyping including analysis of GBA recombinant alleles which had not been investigated in Thai patients before. Results There were 27 patients from seven medical centers, enrolled in the study. All the cases had pediatric onset. GD3 (44.5%) was the most common phenotype, followed by GD2 (40.7%) and GD1 (14.8%), with one case of neonatal GD. The median age of onset for GD1, GD2, and GD3 was 72, 4 and 12 months, respectively, suggesting relatively earlier onset of GD1 and GD3 in Thai patients. All patients with GD1 and most patients with GD3 received ERT. Four patients with GD3 had ERT followed by HSCT. Patients with GD3 who received no or late ERT showed unfavorable outcomes. We identified 14 variants including two novel (p.S384F and p.W533*) and 12 reported pathogenic variants: p.L483P, p.N409S, p.R159W, p.P305A, p.A175G, p.D448H, p.V414L, IVS2+1G>A, IVS6-1G>C, IVS7+1G>C, IVS9-3C>G, and Rec1a. The p.L483P was the most prevalent allele found in this study, at 66% (33/50 alleles), followed by IVS2+1G>A, Rec1a, and IVS6-1G>C. Twenty-four percent of patients were reassigned with validated genotypes, most of whom (4 of 6) were patients with GD2. The [p.S384F + p.W533*] being compounded with p.L483P, was found in the patient with neonatal GD, suggesting that the p.S384F could potentiate the deleterious effect of the p.W533*, and/or vice versa. Conclusions Neuronopathic GD was strikingly prevalent among Thai affected population. Homozygous p.L483P was the most common genotype identified in Thai patients. Recombinant allele Rec1a and splicing mutations were associated with GD2 and severe cases of GD3. Mutation spectrum could be useful for designing stepwise molecular analysis, genetic screenings in population, and new therapeutic research for neuronopathic GD.

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