Bilateral femoral osteolytic lesions in a patient with type 3 Gaucher disease
نویسندگان
چکیده
Type 3 Gaucher disease (GD) manifests with hematologic, neurological and skeletal involvement including Erlenmeyer flask bone deformities, osteopenia, painful bone crises and fractures. We describe bilateral symmetric osteolytic lesions in a 22 year old with type 3 GD, chronically treated with enzyme replacement therapy. These atypical bone findings, previously reported in two similar patients with type 3 GD, expand our understanding of the evolving natural history of GD in the post-treatment era.
منابع مشابه
Adult type 3 Gaucher disease as manifestation of R463C/Rec Nci I mutation: first reported case in the world literature.
Gaucher disease is the most common lysosomal storage disorder. It is autosomal recessive in nature and results from mutations in the GBA gene coding for acid beta glucosidase. It is classified into three types based on CNS involvement and its severity. Type 3, or chronic neuronopathic Gaucher disease, generally has an onset in childhood and by definition, includes all patients with any form of ...
متن کاملScintigraphic evaluation of multifocal osteolytic lesions in a patient with primary hyperparathyroidism: A case report
Osteitis fibrosa cystica is the classic patognomonic form of skeletal disease in hyperparathyroidism that characterizes with decreased cortical bone thickness compared to increased cancellous bone. We present a case of 52-year old female patient with osteolysis of the left calf on radiographic images. The bone scan detected multiple focal pathological accumulations in the skull, left tibia, bot...
متن کاملScrofuloderma-Like Lesions in a Patient with Hodgkin’s Disease
A 15-year-old boy presented with several months history of bilateral axillary lymph adenopathies which were ulcerated subsequently. He had received anti-tuberculosis therapy for more than six months based on suspicious diagnosis of scrofuloderma. Histopathologic examination confirmed the diagnosis of specific lesions of Hodgkin’s disease. These lesions were probably metastatic due to retrograde...
متن کاملReport of Four Children with Gaucher Disease and Review of Literature
Gaucher Disease (GD) is the most common type of Lysosomal Storage Disorder and it is divided into three distinct subtypes. The authors here report four different cases of Gaucher Disease, with varying clinical manifestations, and the diagnosis of each established by the low level of Beta-Glucosidase enzyme as well as genetic DNA testing. The study also highlights the importance of early diagnos...
متن کاملType-3 Gaucher disease with bilateral necrosis of the neck of femur: a case report
INTRODUCTION Though Gauchers disease (G.D.), a lipid storage disease is most commonly encountered by the hematologist but we present a case of G.D. type-3 which is rare in Indian subcontinent. CASE PRESENTATION A 36-year-old Hindu, Indian male patient presented with bony pain, kyphosis, dragging sensation in the abdomen, dementia and ptosis of the left eyelid for one year. Clinical examinatio...
متن کامل