Subarachnoid anesthesia in a patient with type I Gaucher disease

Gaucher's disease is a rare genetic disorder characterized by lack or functional insufficiency of glucocerebrosidase, an enzyme accountable for intracellular hydrolysis of glucosyl ceramide and other glycosphingolipids, which results in macrophage storage in the mononuclear-macrophage system. The severity of Gaucher's disease is correlated with the extent to which the central nervous system is involved. It is associated with the so-called Gaucher's cells in the bone marrow, but is specifically diagnosed by showing enzyme acid beta-glucosidase activity in a sample of blood leukocyte or cultured macrophages from skin biopsy. In the last 10 years, an enzyme replacement therapy (alglucerase) for the disease has been available, which has significantly changed approaches to its treatment. Here we report the case of a 56-year-old female patient with type I Gaucher's disease who underwent surgery for subcapital hip fracture with subarachnoid anesthesia. Type I Gaucher's disease clinical and pathophysiologic aspects relevant to anesthetic management are discussed. As very few similar cases have been reported in the anesthesiology literature, it is our belief that the present case may help to elucidate some controversial issues relating to the perioperative anesthetic management of patients with type I Gaucher's disease.     

Cemented revision total hip arthroplasty with impaction bone grafting in Gaucher's disease

Total hip arthroplasty in Gaucher's disease has been associated with high rates of loosening after all types of arthroplasty. We present a patient with type 1 Gaucher's disease who underwent revision cemented total hip arthroplasty for aseptic loosening after 12 months of enzyme replacement therapy. Major osteolysis was managed by impaction morcellized bone grafting. An excellent clinical and radiographic result was obtained at 5-year follow-up. Enzyme replacement therapy combined with modern revision techniques may offer improved outcomes for patients with Gaucher's disease.     

Gaucher's disease in the Cape coloured population of the RSA, including a family with 5 affected siblings

Nine Cape Coloured children from 4 families with severe non-neuropathic Gaucher's disease are documented. The diagnosis was confirmed histologically in the bone marrow, spleen and liver, and by serum acid phosphatase and leucocyte beta-glucosidase assays. This represents a minimum prevalence for Gaucher's disease of 1 in 247,350 in this population and an approximate genetic carrier rate of 1 in 230 for the abnormal gene. A family with 5 affected siblings is recorded. The severe early clinical expression documented in these coloured patients is similar to that described in the Afrikaner population and differs from the less severe expression of Gaucher's disease in the South African Ashkenazi Jewish population. Gaucher's disease in the Cape Coloured population presents with a precocious onset, causes severe complications and progresses rapidly.     

Gaucher's disease in the black population of South Africa. A case report

The diagnosis of the non-neuropathic form of Gaucher's disease was confirmed by haematological and enzymatic investigations in a Black girl. The aetiological relationship of this condition with Gaucher's disease in other populations is uncertain, but lack of expression of the enzyme defect in the white blood cells in our patient might be significant in this context. This case serves to emphasize that Gaucher's disease enters into the differential diagnosis of unexplained splenomegaly, irrespective of the ethnic background of the affected person.     

A 27-year experience with splenectomy for Gaucher's disease

Gaucher's disease is an inherited metabolic disorder caused by the defective activity of acid beta-glucosidase and the resultant accumulation of glucosyl ceramide-laden macrophages in the liver, bone, and spleen. Splenectomy is the preferred treatment for patients with Gaucher's disease who develop massive splenomegaly with accompanying hypersplenism and/or mechanical pressure symptoms. The charts of 48 patients with Gaucher's disease undergoing splenectomy at our institution between January 1963 and December 1989 were analyzed to determine the short- and long-term results of this procedure. Thirty-five (73%) patients had total splenectomy, whereas 13 (27%) patients had partial splenectomy. There was one postoperative death (after total splenectomy), and 13 patients (27%) had postoperative complications. Eleven patients (23%) presented with accelerated bone disease after total splenectomy (mean follow-up: 96 months). No patients having partial splenectomy (mean follow-up: 25 months) developed progressive bone disease. Eight patients have died since surgery. All four deaths due to malignant disease occurred in patients after total splenectomy. The results of this largest-ever reported series of splenectomy for Gaucher's disease confirm that while either total or partial splenectomy can be performed with minimal morbidity and mortality, total splenectomy is accompanied by more aggressive bone disease and a predisposition to malignancy. Prospective, randomized trials are needed to substantiate whether partial splenectomy is indeed the treatment of choice for splenomegaly associated with Gaucher's disease.     

Partial splenectomy for Gaucher''s disease.

Gaucher's disease is an autosomal recessive disorder caused by deficiency of beta glucocerebrosidase, resulting in an accumulation of glucocerebroside in the reticuloendothelial system. These patients have massive splenomegaly and bone pain, but may have normal life expectancy. Traditionally, splenectomy has been used to treat hypersplenism, but may be associated with a high incidence of postsplenectomy sepsis and accelerated hepatic and bone lipid deposition. Two children are reported who had partial splenectomy for symptoms of Gaucher's disease. Both patients had laboratory evidence of hypersplenism. A 90% splenectomy was performed, and the residual splenic fragment was wrapped in Vicryl mesh. Both patients are currently asymptomatic with normal hematologic parameters. Postoperative radionuclide scans demonstrate increase in the size of the residual splenic fragment. Partial splenectomy may benefit patients with Gaucher's disease, but long-term follow-up care is necessary.     

Intravenous bisphosphonate treatment and pregnancy: its effects on mother and infant bone health

Introduction  

Type 1 Gaucher's disease (GD1) is a lysosomal storage disorder associated with disabling bone involvement. The choice treatment for Gaucher's disease is enzyme replacement therapy (ERT). The use of bisphosphonate treatment for osteopenia and osteoporosis has been suggested.     

Surgical management of spinal involvement in children and adolescents with Gaucher's disease

Gaucher's disease is an uncommon hereditary glycolipid storage disorder characterized by the accumulation of glucocerebroside in the lysosomes of macrophages of the reticuloendothelial system. Skeletal manifestations are variable in severity and typically involve the long bones. Vertebral involvement is less well characterized, particularly in children and adolescents. We report on the surgical management of spinal involvement in four children and adolescents with Gaucher's disease; two for kyphotic deformity and two for kyphotic deformity associated with neurologic compromise. We recommend anterior spinal release with fusion and posterior spinal fusion with segmental instrumentation in cases of kyphotic deformity. In cases of spinal cord compromise at the apex of the kyphotic deformity with retropulsion of involved bone, anterior decompression also should be performed. Routine surveillance for spinal deformity in patients with Gaucher's disease is necessary to allow early intervention before the development of severe deformity and neurologic compromise.     

Subtotal splenectomy in Gaucher's disease: towards a definition of critical splenic mass.

Partial splenectomy is currently the favoured surgical approach for Gaucher's disease. Preservation of splenic tissue is indicated to prevent susceptibility to overwhelming postsplenectomy sepsis, to delay the massive deposition of glucocerebroside in the liver and bones, and to relieve symptoms of hypersplenism. Controversial issues and technical problems related to partial splenectomy for Gaucher's disease are discussed and a definition of critical splenic mass considered.     

Total hip arthroplasty in Gaucher's disease. Long-term prognosis

Avascular necrosis of the femoral head is a cause of morbidity in patients with Gaucher's disease. Total hip arthroplasty (THA) is recommended, but there is controversy about the long-term value of this procedure. In eight patients treated with 15 THAs, 11 (73%) have remained fully mobile and asymptomatic up to 14 years following surgery. These long-term follow-up observations are evidence in favor of THA for treatment of hip joint problems associated with Gaucher's disease.     

Splenectomy for Gaucher's disease.

The records of ten patients who underwent splenectomy for Gaucher's disease were reviewed. All patients had the adult type of the disease. The indications for splenectomy were hypersplenism and mechanical problems. The hematological picture returned to normal in all cases and has remained so throughout the follow-up period. The different forms Gaucher's disease and specific diagnostic tests are discussed. Even though splenectomy is indicated when hematological and mechanical problems exist, selective enzymatic replacement therapy seems to be the preferred future mode of treatment.     

Spinal cord compression secondary to Gaucher's disease

A case of compression of the spinal cord and cauda equina secondary to collapse of the T-12 and L-3 vertebral bodies in a patient with type 1 Gaucher's disease is presented. Decompressive laminectomies were done at both the T-12 and L-3 levels with moderate improvement of the patient's neurologic findings. Histologic examinations confirmed the presence of Gaucher's cells in the bone. Review of the literature revealed only one previous report.     

Epidemiologic,clinical, biological and therapeutic aspects of Gaucher disease

GENERAL CHARACTERISTICS: Gaucher's disease is a genetic disease of autosomal recessive transmission due to a deficit in a lysosomal enzyme: beta-glucocerebrosidase. The disease is characterised by deposits of glucosylceramide in the cells of the liver, spleen and bone marrow. Acute or chronic neurological forms (type 2 and 3) account for only 5% of patients suffering from Gaucher's disease and are less frequent than the non-neurological forms (type 1). CLINICAL AND BIOCHEMICAL MANIFESTATIONS: Gaucher's disease is associated with spleno- or hepato-megalia, asthenia, bone complications (Erlenmeyer flask deformity, osteopenia and osteonecrosis), as well as with haematological (thrombopenia, anaemia) or biochemical abnormalities (increase in angiotensin-converting enzyme, ferritin, tartrate-resistant acid phosphatase and chitotriosidase). Central nervous system involvement is only found in the type 2 and 3. Diagnosis relies on measurement of beta-glucocerebrosidase activity in the circulating leukocytes. REGARDING TREATMENT: Treatment with enzyme replacement (imiglucerase: recombinant enzyme preparation) improves the haematological abnormalities, hepatosplenomegalia and quality of life in a matter of a few months. Regression of the bone disorders is usually observed only after 3-4 years of treatment. Recently, gene therapy trials have successfully been started.     

Gaucher's disease

This is a review of the classification, pathophysiology, and clinical manifestations of Gaucher's disease. The orthopedic manifestations of the disease include bone pain syndromes, pathologic fractures, and avascular necrosis of the femoral head in children and adults.     

Spinal cord decompression for Gaucher's disease

We report an individual with Type I nonneuronopathic Gaucher's disease who experienced the rare complication of spinal cord compression secondary to a sclerotic vertebral fracture. He successfully underwent anterolateral spinal cord decompression and spinal fusion despite the severity of his generalized skeletal disease.     

Aseptic necrosis of the capitate secondary to Gaucher's disease: a case report

We report a case with aseptic necrosis of the capitate in a young patient with Gaucher's disease and no fracture of the carpus. The value of technetium bone scintigraphy and computer tomographic scanning are discussed.     

乳腺导管扩张症临床病理特征与治疗对策

乳腺导管扩张症是临床较常见的乳腺炎性疾病,还被称为浆细胞性乳腺炎、粉刺性乳腺炎、导管周围乳腺炎、肉芽肿性乳腺炎等。从该病的病理发展过程看,这些命名只是反映了该病不同阶段的病理表现,最根本的病理变化是乳腺导管扩张,因此以乳腺导管扩张症命名最合理。乳腺导管扩张症随着病理过程的进展,不同时期常有不同的临床表现,可分为：导管扩张期、炎块期、脓肿期和瘘管期。不同的病期可采用不同的治疗对策。     

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??Clinicopathologic features and treatment of mammary duct ectasia MA Rong. Department of Breast Surgery?? Qilu Hospital of Shandong University, Jinan 250012, China Abstract Mammary duct ectasia is of common inflammatory disease of breast. It is also called plasma cell mastitis, comedo mastitis, periductal mastitis, granulomatous mastitis and so on. Its primary basic pathologic change is mammary duct dilation. So it is called mammary duct ectasia is more rational. According to its different clinicopathologic features, it can be divided into four stages: duct dilation, inflammatory mass, abscess and fistula. We may treat this disease with different strategy in different stage.     

Severe pathologic compression of three consecutive vertebrae in Gaucher's disease: a case report and review of the literature

To date, only one patient with spinal affection of Gaucher's disease requiring surgery for spinal compression has been reported. We present an additional case with extensive affection of three consecutive vertebral bodies, and present a review of the literature relating to the management of therapy and follow-up of this disease.     

Effect of functional disorders of deep veins of the lower extremities on the clinical course of varicose veins

Results of the complex clinical and phlebographic examination of 106 patients with the varicose disease were studied. It was established that the degree of alterations of the venous outflow was dependent on the spread of ectasia of profound veins, while the clinical form of ectasia of the profound veins--on the state of the valve system.