Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: Identification and expression of a novel acid ?-glucosidase mutation

Wasserstein, Melissa P.; Martignetti, John A.; Zeitlin, Robert N.; Lumerman, Harry; Solomón, Michael R.; Grace, Marie; Desnick, Robert J.

doi:10.1002/(sici)1096-8628(19990604)84:4<334::aid-ajmg5>3.0.co;2-p

Cited by 9 publications

(6 citation statements)

References 29 publications

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“…In a literature review, the rate of cortical loss in the MC was reported as 56.7%, and the inferior displacement of the MC as 18.9% [22]. In the study, the effacement of the borders of the MC was detected in 9 (56.3%) panoramic images and in 7 (43.8%) CBCT images, which our findings showed results consistent with many studies in the literature [13,15,20,22,23,26,48]. Inferior displacement of the MC, on the other hand, was observed in only 1 (6.3%) patient in both panoramic and CBCT images.…”

Section: Discussionsupporting

confidence: 89%

Clinical and radiological evaluation of dentomaxillofacial involvement in Type I Gaucher disease

et al. 2021

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Objectives This study aimed to evaluate the oral findings and dentomaxillofacial involvement of patients diagnosed with Type I Gaucher Disease (GD), and to compare these findings with the control group. Methods A total of 32 patients, 5 males, and 11 females in both the study (range 19-60, mean age 34.56) and control group (range 18-49, mean age 34.63) were included in the study. The file records of all patients obtained in the first evaluation were examined, and the hematological, visceral, and bone examination findings were recorded. Subsequently, oral examinations were performed for oral findings and dentomaxillofacial involvement, and radiological examinations were performed in panoramic images and cone-beam computed tomography (CBCT) images. Results There was mandible involvement in 9 (56.3%), and involvement in both jaws in 4 (25.0%) of the patients with Type I GD. According to the CBCT findings, generalized rarefaction in 10 (62.5%) patients, enlarged marrow spaces in 12 (75.0%) patients, thinning of the lamina dura in 10 (62.5%) patients, and loss in the cortical borders of the mandibular canal in 7 (43.8%) patients were among the common radiographic findings. When the control and study group were compared, in panoramic images, a significant difference was found in terms of generalized rarefaction and enlarged marrow spaces, while significant differences were found in CBCT images regarding generalized rarefaction, enlarged marrow spaces, loss in the cortical margins of the mandibular canal and widening in the periodontal ligament space. Conclusions The roadmap for the diagnosis of Gaucher lesions in the jawbones includes a comprehensive medical history and a clinical and radiological examination. In conclusion, dentists should be familiar with the dentomaxillofacial findings of GD and be aware of possible oral and dental complications that may develop.

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Section: Discussionsupporting

confidence: 89%

Clinical and radiological evaluation of dentomaxillofacial involvement in Type I Gaucher disease

et al. 2021

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“…Serious problems such as osteomyelitis may occur because of trabecular bone loss in the mandible. Because of the decreased blood flow, the sensitivity of the bone to infection may increase with GD (27,28). In addition, a risk of pathological fracture exists in areas where trabeculae are weakened.…”

Section: Discussionmentioning

confidence: 99%

Evaluation of the Relationship Between Jaw Involvement and Systemic Involvement in Type 1 Gaucher Disease

Aşantoğrol¹,

Dursun²,

Canger³

et al. 2021

Turk J Endocrinol Metab

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Objective: This study aimed to assess osteopenia and trabeculation loss in the jaws of patients diagnosed with Type 1 Gaucher disease (GD) using cone-beam computed tomography (CBCT) images, unlike the routine computed tomography, and evaluate the correlation of jaw involvement with systemic involvement of GD. Material and Methods: A total of 16 patients, five males and 11 females, who were followed up with the diagnosis of Type I GD were included in the study group. Moreover, 16 age-and sex-matched healthy individuals in the study group were included in the control group. The records of patients at the time of diagnosis were obtained, and the presence of generalized osteopenia of jaws was investigated in the CBCT images, which were taken for maxillofacial examinations. Results: In comparison, the incidence of generalized osteopenia of jaws was significantly higher in the study group than in the control group (p=0.001). In addition, six out of seven patients with hepatomegaly and seven of 11 splenomegaly/operated patients had generalized osteopenia. However, no statistically significant relationship was observed between the presence of hepatomegaly/splenomegaly and generalized osteopenia. In addition, no significant difference was observed among bone involvement, hematological parameters, and jaw involvement in patients with Type 1 GD (p>0.05). Conclusion: Trabecular bone loss and osteopenia increased in Type 1 GD; therefore, patients with Type 1 GD should be evaluated periodically in terms of jaw involvement along with other parameters.

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“…Neither child was splenectomized. While osteolytic lesions are described in GD, most are large, expanding intramedullary lesions that grow to occupy the entire corticomedullary region of the bone(4)(5)(6). In contrast, the lesions in these two cases demonstrate predominant cortical scalloping with fairly indolent growth.…”

Section: Discussionmentioning

confidence: 99%

“…Skeletal manifestations can include abnormal bone remodeling resulting in the characteristic Erlenmeyer flask deformities, painful bone crises, osteopenia, and an increased frequency of fractures. Osteolytic lesions can also occur, but are rare, and tend to be large expanding intramedullary lesions with cortical thinning (4)(5)(6). …”

Section: Introductionmentioning

confidence: 99%

Bilateral symmetrical cortical osteolytic lesions in two patients with Gaucher disease

Oppenheim

Canon

Barcenas³

et al. 2011

Skeletal Radiol

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Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder characterized by the reduced or absent activity of glucocerebrosidase. The disease is split into three types. Type 3, or chronic neuronopathic GD, manifests with heterogeneous clinical presentations. Skeletal manifestations of GD can include abnormal bone remodeling resulting in the characteristic Erlenmeyer flask deformities, painful bone crises, osteopenia, and an increased frequency of fractures. Osteolytic lesions can also occur, but are rare, and tend to be large expanding intramedullary lesions with cortical thinning. We present two adolescent patients with type 3 GD who developed bilateral symmetrical cortical osteolytic lesions. The lesions in both cases demonstrate predominant cortical scalloping with fairly indolent growth. Neither patient manifests some of the more common bony manifestations of GD; the Erlenmeyer flask deformity, bone crises, or osteonecrosis. These atypical and unique skeletal findings in two unrelated probands with type 3 GD further expands the extent of phenotypic variation encountered in this single gene disorder.

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Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: Identification and expression of a novel acid ?-glucosidase mutation

Cited by 9 publications

References 29 publications

Clinical and radiological evaluation of dentomaxillofacial involvement in Type I Gaucher disease

Clinical and radiological evaluation of dentomaxillofacial involvement in Type I Gaucher disease

Evaluation of the Relationship Between Jaw Involvement and Systemic Involvement in Type 1 Gaucher Disease

Bilateral symmetrical cortical osteolytic lesions in two patients with Gaucher disease

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