Gabriela Butoi - Academia.edu (original) (raw)
Uploads
Papers by Gabriela Butoi
Internal Medicine
Gaucher disease is the most frequent lysosomal storage disease, caused by the deficiency of an en... more Gaucher 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 Gauc...
Romanian Neurosurgery, 2016
Spinal epidural haematoma (SEH) is a rare entity. We present the case of a 45 years old patient w... more Spinal epidural haematoma (SEH) is a rare entity. We present the case of a 45 years old patient with lumbar epidural hematoma produced by a L3 vertebral tumoral (metastatic) fracture. Neurological status: cauda equina syndrome with sphincterian deficits, incomplete paraplegia (Frankel C), with neurological level L1. Emergency surgery was performed (L3-L2-bilateral laminectomy, L1 left laminectomy, posterior stabilization L2-L4 by titan screws) offering the possibility to progressive motor, sensitive and sphincterian deficites recovery. Abbreviations: Computer Tomography-CT, Magnetic resonance Imaging-MRI, Spinal epidural haematoma-SEH, Visual analogue scale of pain-VAS. Conclusion: We present a patient with a compressive subacute extradural haematoma, due to a traumatic fracture on a vertebral metastatic tumor who produced cauda equina syndrome. Surgical emergency intervention was mandatory for a good neurological outcome.
Advances in Brain Imaging, 2012
Internal Medicine
Gaucher disease is the most frequent lysosomal storage disease, caused by the deficiency of an en... more Gaucher 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 Gauc...
Romanian Neurosurgery, 2016
Spinal epidural haematoma (SEH) is a rare entity. We present the case of a 45 years old patient w... more Spinal epidural haematoma (SEH) is a rare entity. We present the case of a 45 years old patient with lumbar epidural hematoma produced by a L3 vertebral tumoral (metastatic) fracture. Neurological status: cauda equina syndrome with sphincterian deficits, incomplete paraplegia (Frankel C), with neurological level L1. Emergency surgery was performed (L3-L2-bilateral laminectomy, L1 left laminectomy, posterior stabilization L2-L4 by titan screws) offering the possibility to progressive motor, sensitive and sphincterian deficites recovery. Abbreviations: Computer Tomography-CT, Magnetic resonance Imaging-MRI, Spinal epidural haematoma-SEH, Visual analogue scale of pain-VAS. Conclusion: We present a patient with a compressive subacute extradural haematoma, due to a traumatic fracture on a vertebral metastatic tumor who produced cauda equina syndrome. Surgical emergency intervention was mandatory for a good neurological outcome.
Advances in Brain Imaging, 2012