Cases reported "Amyloidosis"

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1/2138. Primary perireticulin amyloidosis in a 14-year-old girl.

    A primary perireticulin amyloidosis is reported in a 14-year-old girl, which showed the symptoms of a steroid-resistant nephrotic syndrome. The diagnosis was established by biopsies of kidney and rectum. Occurrence of amyloidosis in childhood and the clinical picture are discussed and references to clinical trials carried out are given. ( info)

2/2138. fibrinogen A alpha chain mutation (Arg554 Leu) associated with hereditary renal amyloidosis in a French family.

    A French family with hereditary renal amyloidosis (HRA) was studied. The disease presented in 7 of the 8 affected individuals with proteinuria or the nephrotic syndrome. The age of onset was in the fifth decade of life. There is currently no sign of extrarenal involvement in any affected individual. However, the nephropathy in this family is progressive and led to terminal renal failure in 4 patients. immunohistochemistry studies of glomerular amyloid deposits suggested that the amyloid protein was the fibrinogen A alpha chain. Direct dna sequencing revealed a G 4993 T transversion and subsequently Arg 554 Leu mutation in the fibrinogen A alpha chain. This is the first description of this fibrinogen A alpha chain mutation in europe. This family is of French descent and cannot be related to the previously reported Peruvian/Mexican and African-American kindreds. ( info)

3/2138. A novel variant of transthyretin (Glu42Asp) associated with sporadic late-onset cardiac amyloidosis.

    A sixty-three year old French man presented with isolated late-onset amyloid cardiomyopathy proven by endomyocardial biopsy. There was no known family history of amyloidosis. immunohistochemistry of cardiac deposits suggested that amyloi fibrils were derived from transthyretin. dna sequencing revealed a point mutation in exon 2 of the transthyretin gene responsible for a novel amyloidogenic variant Asp42. ( info)

4/2138. Nodular amyloidosis treated with a pulsed dye laser.

    BACKGROUND: Nodular amyloidosis is a rare form of primary localized cutaneous amyloidosis which is characterized by single or multiple nodules located on the extremities, trunk, genitalia, or face. OBJECTIVE: To determine the clinical and histologic response of nodular amyloidosis to pulsed dye laser treatment. methods: biopsy-proven amyloid nodules were treated with a 585-nm pulsed dye laser (average fluence 5.25 J/cm2; 10 mm spot) at 6- to 8-week time intervals. Clinical and histologic examination of laser-irradiated nodules were performed before and 6 weeks after the final laser treatment. RESULTS: Clinical improvement in the color, size, and pliability of nodules was noted and maintained for 6 months. Histologic examination revealed decreased inflammation and improvement in dermal collagen after laser irradiation. CONCLUSIONS: Since amyloid fibrils may be formed in association with dermatan sulfate-an essential matrix component in collagen fiber formation, it is postulated that the improvement seen in amyloid nodules after pulsed dye laser treatment may be attributed to a mechanism similar to that seen with hypertrophic scars. ( info)

5/2138. Tc-99m HDP uptake in cardiac amyloidosis.

    amyloidosis is characterized by the soft-tissue deposition of amyloid protein. It may occur as a primary disorder but more often is seen as a manifestation of chronic illness. Scattered reports of the affinity of amyloid for bone scanning agents have appeared over many years. Isolated cardiac uptake of Tc-99m HDP is described in a patient with biopsy-proved cardiac amyloidosis on a background of tuberculosis, prostate cancer, and coronary artery disease. ( info)

6/2138. Primary amyloidoma of the thoracic spine.

    Focal amyloidosis (amyloidoma) involving the vertebral spine without an underlying systemic disorder is rare. Only six cases been reported in the literature so far, one involving the cervical spine, the rest occurring in the thoracic region. We present a patient with amyloidoma involving the thoracic spine and describe the magnetic resonance imaging features of this condition. ( info)

7/2138. Fatal cervical spondyloarthropathy in a hemodialysis patient with systemic deposition of beta2-microglobulin amyloid.

    Destructive spondyloarthropathy is a serious complication in patients with end-stage renal disease. We report a case of fatal cervical spondyloarthropathy in a patient on hemodialysis who presented with severe pain in the cervical area. magnetic resonance imaging (MRI) of the cervical spine showed a soft tissue mass at the cervico-occipital hinge with spinal cord compression and destructive lesions of the cervical vertebrae. The patient became quadriplegic during the MRI procedure and died a few days later. Postmortem examination showed deposition of beta2-microglobulin in the cervico-occipital hinge. A unique feature of this case was the documented presence of systemic beta2-microglobulin amyloid deposits involving the spleen that to our knowledge has not been reported previously. Clinical suspicion and early detection of lesions caused by dialysis-related amyloidosis (DRA) may help to prevent significant morbidity and mortality in long-term dialysis patients. ( info)

8/2138. Generalized AA-amyloidosis in a 58-year-old Caucasian woman with an 18-month history of gastrointestinal tuberculosis.

    We report on a 58-year-old Caucasian woman who went to a general practitioner about recurrent abdominal pain, night sweats and weight loss of a few weeks' duration. Once gynaecological disease had been ruled out, the patient was admitted to hospital with severe abdominal pain and intestinal obstruction and a right-sided hemicolectomy was performed. Following the investigation of osteolytic lumbar vertebrae, 18 months after visiting the general practitioner the patient was finally found to be suffering from generalized AA-amyloidosis secondary to gastrointestinal tuberculosis. This had been misinterpreted as Crohn's disease. Re-examination of the specimens from the right-sided hemicolectomy demonstrated that scanty deposits of AA-amyloid were present 9 months after the first presentation. AA-amyloid can thus be present in serious inflammatory disease even during the first 9 months after the initial clinical presentation. ( info)

9/2138. Striking cholestatic liver disease: a distinct manifestation of advanced primary amyloidosis.

    In patients with systemic amyloidosis, amyloid fibrils are typically deposited in numerous organs, including the kidneys, heart, and liver. Although amyloid deposition in the liver is common in patients with systemic amyloidosis, clinical liver disease is relatively rare. The patient described here had cholestatic liver disease as the primary manifestation of primary systemic amyloidosis. review of the literature suggests that prominent liver disease with cholestasis is unusual but probably underreported in patients with amyloidosis and appears to be restricted to patients with the primary form of amyloidosis. Nonetheless, cholestatic hepatic amyloidosis is characterized by distinct clinical, laboratory, and pathologic features; recognition of this process is critical because it identifies patients with widespread organ involvement and portends a poor prognosis. ( info)

10/2138. Fatal cardiac beta2-microglobulin amyloidosis in patients on long-term hemodialysis.

    We report two long-term hemodialysis patients who developed severe congestive heart failure attributable to cardiac heavy amyloid deposition. Both patients became hypotensive during dialysis sessions, gradually making it difficult to continue hemodialysis, and they died of congestive heart failure. At autopsy, left ventricle walls in each case contained diffuse extensive deposits of amyloid. The distribution of amyloid was not localized to vessel walls but was widely disseminated throughout the left ventricle walls and replaced myocardial muscle fibers. Immunohistochemical examination showed positive staining for anti-human beta2-microglobulin antibody. We conclude that cardiac dialysis-related amyloidosis should also be considered in long-term hemodialysis patients with congestive heart failure as a life-threatening complication. ( info)
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