Systemic amyloidosis with amyloid goiter: An autopsy report

Systemic amyloidosis is a rare but potentially lethal disease characterized by amyloid accumulation in all organs. Amyloid goiter is an extremely rare pathological lesion characterized by thyroid gland enlargement with fat deposition due to local or systemic amyloidosis. A 60 s woman with rheumatoid arthritis was found unconscious on her bed and declared dead after failed cardiopulmonary resuscitation. Postmortem computed tomography showed severe enlargement of the heart and thyroid glands, suggestive of cardiac hypertrophy and thyroidism. Histological examination revealed amorphous eosinophilic deposits with parenchymal cell destruction in all organs, including the heart and thyroid gland. Abnormal amorphous deposits in the tissues were positive for amyloid A as noted upon Congo red immunohistochemical staining and birefringence microscopy, confirming systemic amyloidosis with amyloid goiter. Serum biochemical analysis revealed increased levels of C-reactive protein; anti-cyclic citrullinated peptide antibody; creatinine kinase-myoglobin binding and N-terminal pro-brain natriuretic peptide; and thyroglobulin, free triiodothyronine, and free thyroxine, indicating systemic inflammation, active rheumatoid arthritis, heart failure, and destructive hyperthyroidism, respectively. These findings suggested that the cause of death was undiagnosed heart failure due to secondary systemic amyloid A (AA) amyloidosis related to rheumatoid arthritis. In addition, destructive hyperthyroidism caused by systemic AA amyloidosis may have also been one of the causes of death as indicated by cardiac overload. To the best of our knowledge, this is the first forensic autopsy report of cardiac amyloidosis with amyloid goiter. In conclusion, this autopsy report highlights the importance of increased awareness and early intervention for severe but treatable complications of systemic amyloidosis.     

Iatrogenic artefacts attributable to traditional cupping therapy in a shotgun fatality

Cupping is a traditional treatment method that has been used for thousands of years to diminish pain, restore appetite and improve digestion, remove tendency to faint or remove ‘bad blood’ from the body. The suction of the cup is created by fire or mechanical devices. This procedure may result in circular erythema, petechiae, purpura, ecchymosis, burns and may be mistaken for trauma-related ecchymosis or livor mortis. Forty-year-old male was died by shotgun injuries in the same day of the wounding. Circular ecchymoses were observed on the forehead, within the scalp of occipital region, the back of the neck, and on the back. They were defined as ecchymoses in the first examination made by a general practitioner. In the external examination during the legal autopsy superficial incisions were observed on the circular ecchymoses. The shape, localization and color of and the characteristics of incisions on the circular lesions were concluded to be caused by the dry cupping therapy and wet cupping therapy procedures. These lesions and their formation mechanisms should be well-known by the forensic medical examiners and the other medical personnel involved in the forensic medical examination.     

Absent skeletal uptake of <Superscript>99m</Superscript>Tc-hydroxymethylene diphosphonate in the presence of AL-type amyloidosis associated with multiple myeloma

A 66-year-old woman with congestive heart failure suspected to have multiple myeloma underwent bone scintigraphy. The bone scintigraphy using technetium-99m hydroxymethylene-diphosphonate showed the following interesting findings: absent skeletal uptake; increased gastrointestinal, myocardial, and soft tissue uptake; migration of radionuclide to bilateral pleural effusions. Histopathological examination revealed that the patient suffered from AL-type amyloidosis associated with multiple myeloma. Extraosseous uptake is often observed on bone scintigraphy in amyloidosis patients, but in many cases skeletal uptake is preserved. The simultaneous presentation of these findings is rare.     

Severe diffuse systemic amyloidosis with involvement of the pharynx, larynx, and trachea: CT and MR findings

Amyloidosis is a term applied to a diverse group of disorders that share the deposition of amyloid protein in various extracellular tissues. Systemic amyloidosis may involve almost any organ system in the body including regions in the head and neck; however, pharyngeal involvement is rare, with only 12 cases having been previously reported. Ten of these cases were localized disease, and only 2 cases were systemic amyloidosis. We present the case of a patient with severe diffuse systemic amyloidosis with extensive involvement of the pharynx, larynx, trachea, lungs, eyelids, and breasts. We also review the imaging characteristics and pertinent literature.     

Computed tomography of the tongue in primary amyloidosis

Primary amyloidosis is a systemic disease that may cause diffuse enlargement of the tongue or macroglossia. Obvious macroglossia is easily detected by clinical inspection. There is no agreement, however, on an objective measure of tongue enlargement. Computed tomography of the base of the tongue was performed in 12 patients with primary amyloidosis. Tongue width and width of the hyoglossus and genioglossus muscles were measured. Based on normal measurements it was concluded that macroglossia is present if the tongue is wider than 50 mm and the genioglossus wider than 11 mm. This should be accompanied by a midline cleft of the tongue surface and outward displacement of normal-size submandibular glands.     

Sudden death due to Takayasu arteritis complication associated with situs inversus totalis: A case discovered at autopsy

Takayasu arteritis is a rare pathology that usually has general and atypical signs that make its diagnosis difficult. These characteristics can delay diagnosis, thus leading to complications and death. We, herein, report an autopsy case of a 25-year-old female patient with a history of multiple consultations for dyspnea. During these consultations, no diagnosis was made. She was found unconscious near her home and shortly after, she was declared dead. Forensic autopsy revealed superficial traumatic lesions. Internal examination revealed complete situs inversus. Multiple bilateral pleural adhesions and bilateral moderate effusion were found. The heart was heavy with thickening of the aortic wall (1.1cm), carotid arteries, and pulmonary trunk, associated with a large aortic valve and evidence of leakage. Histological examination of the aorta and its major branches showed features of panarteritis with segmental involvement. The vascular wall was thick with lymphoplasmacytic infiltrate and giant cells involving mainly the medio-adventitial junction. Disruption of the elastic lamina and reactive fibrosis in the intima were also noted. Diagnosis of large vessel vasculitis and particularly Takayasu arteritis was made.Death was therefore attributed to heart failure due to aortic insufficiency as a complication of Takayasu arteritis.     

Bone scintigram in cardiac amyloidosis: a case report

Intense, diffuse localization of Tc-99m-pyrophosphate was demonstrated in the right and left ventricles of a patient with biopsy-proved amyloidosis and severe congestive heart failure. This finding is strong presumptive evidence of myocardial infiltration by amyloid in the presence of biopsy-proven amyloidosis elsewhere in the body.     

Idiopathic giant cell myocarditis in childhood: A case report

Idiopathic giant cell myocarditis is a rare entity of unknown origin, which causes sudden death in more than half of the affected patients. It is rarely seen in childhood, and might result in death due to heart failure and ventricular arrhythmias. Idiopathic giant cell myocarditis is mostly diagnosed at autopsy incidentally. Here we present a rare case of childhood idiopathic giant cell myocarditis.A 10-year old boy found dead in his bed in the morning. Interview with family members revealed death the boy was in good health conditions apart from being overweight. At autopsy, external examination was completely normal. Internal examination revealed normal findings; the heart was 297 g and macroscopically normal. No traces of any toxic agents detected in complete toxicological analyses. Areas characterized with granulomatous lesions, lymphocytes, histiocytes, and multinucleated giant cells were observed in myocardium at histopathological examination. No necrosis was observed in granulomatous areas. Tuberculosis was negative in the PCR assays. There were no signs indicative of fungal infection, and clinical status of the case was not compatible with the sarcoidosis. In this respect death was attributed to idiopathic giant cell myocarditis.     

Peritoneal amyloidosis in Waldenstr?m's macroglobulinemia. X-ray computed tomographic aspects

A 74 years old man, know to have Waldenstr?m's macroglobulinemia was hospitalized for intestinal obstruction. Upper gastrointestinal barium study revealed an extrinsic stenosis of duodenum. Ultrasonography and abdominal computed tomography revealed a diffuse mesenteric infiltration with medium level echoes and encasing of mesenteric vessels. Histologic examination of biopsies taken at exploratory laparotomy disclosed amyloidosis of the epiploon and mesentery. The review of amyloidosis in macroglobulinemia shows peritoneal amyloidosis to be a very rare event. Sonographic, computed tomographic and pathologic findings of this unusual case are discussed.     

Case report: Delayed enhancement on cardiac MRI in a patient with multiple myeloma without amyloidosis

We report the first observation of diffuse subendocardial and myocardial delayed enhancement on cardiac MRI in a 50-year-old patient with recurrent multiple myeloma but without evidence of amyloidosis. She presented with advanced heart failure and severe restrictive cardiomyopathy. Myocardial biopsy revealed endomyocardial fibrosis. The case was associated with development of multiple arterial and venous thromboses and a fatal course. Because of the fatal outcome, the prognostic significance of delayed enhancement on MRI in multiple myeloma patients may need to be further investigated.     

Cardiac rhabdomyosarcoma

BACKGROUND: Primary malignant cardiac tumors are rare entities and rhabdomyosarcoma accounts 20% of these lesions. CASE REPORT: We presented a female patient with loss of appetite and loss of weight. She also had symptoms of heart failure and bilateral pleural effusions. A mobile tumor in the left heart with the entrance from the left atrium to left ventricle during diastole was seen by transthoracic echocardiography. The tumor was extirpated in total, histologic diagnosis was rhabdomyosarcoma, and the patient died after 6 months. CONCLUSION: Primary malignant cardiac tumors can simulate heart failure or systemic disorders. Cardiac rhabdomyosarcomas have a poor prognosis with the average survival of 6 months after the occurrence of symptoms and making a diagnosis. In cardiac insufficiency, differential diagnostics should be used to consider cardiac tumors that could be with certainty confirmed or excluded by echocardiography.     

An autopsy case of thyroid storm associated with chronic lymphocytic thyroiditis

A Japanese woman in her 30s was found dead on a mattress. She had had fever, cough, and dyspnea for about 2 weeks. Gross examination at autopsy revealed slight enlargement of the thyroid gland and histopathological examination resulted in a diagnosis of chronic lymphocytic thyroiditis. The concentration of triiodothyronine in the cadaveric blood was extraordinarily high, whereas that of thyroid stimulating hormone was below the detection limit. Autoimmune antibodies against thyroid tissue were positive. The cause of death was assumed to be congestive heart failure caused by thyroid storm associated with chronic lymphocytic thyroiditis. Systemic histopathological examination of tissues and postmortem biochemistry can enable a diagnosis in medicolegal autopsies.     

A case of mitochondrial cardiomyopathy with pericardial effusion evaluated by 99mTc-MIBI myocardial scintigraphy

Heart failure is important in determining the prognosis of cardiomyopathy caused by mitochondrial gene abnormalities. We report herein the case of a patient with pericardial effusion and heart failure in whom mitochondrial cardiomyopathy was definitively diagnosed. A 56-year-old woman consulted her primary physician with exertional dyspnea. Examination revealed edema and pericardial effusion, and diuretics were prescribed. However, after marked left ventricular hypertrophy (LVH) was noted, she was admitted to our hospital for further evaluation. Further examination revealed short stature, ptosis, generalized muscle atrophy, and sensorineural hearing loss. Echocardiography showed LVH, a global decrease in wall motion, and pericardial effusion. Physical and laboratory findings, including glucose intolerance and elevated serum lactate, suggested mitochondrial cardiomyopathy. Genetic testing confirmed cardiomyopathy due to a mitochondrial a3243g mutation. After treatment to improve heart failure, marked washout was shown on ^99mTc-MIBI (methoxyisobutylisonitrile) myocardial scintigraphy, suggesting a correlation with mitochondrial dysfunction.     

99mTc DPD is the preferential bone tracer for diagnosis of cardiac transthyretin amyloidosis

We emphasize the role of Tc-99m-3,3-diphosphono-1,2-propanodicarboxylicacid (DPD) scintigraphy as a noninvasive tool to distinguish transthyretin (TTR)-related cardiac amyloidosis from other forms of cardiac amyloidosis. We report the case of a 76-year-old male patient suffering from congestive heart failure in whom imaging investigation by DPD scintigraphy showed a strong cardiac uptake highly suggestive of TTR amyloidosis variant. TTR-related cardiac amyloidosis was confirmed on myocardial biopsies by immunohistochemistry analysis. This case supports the growing interest in DPD scintigraphy for typing cardiac amyloidosis and for its contribution in the place of invasive myocardial biopsy.     

Magnetic resonance imaging in primary amyloidosis

Twelve patients with primary amyloidosis (AL) were investigated with magnetic resonance imaging (MRI). In 9 patients an abnormal thickening of the heart walls was present and in 2 macroglossia was found at MRI. T1 was significantly increased in liver (p less than 0.05) and subcutaneous fat (p less than 0.01) while it was decreased in the spleen (p less than 0.05). T2 was significantly decreased (p less than 0.01) in the spleen in patients with amyloidosis, while it was not significantly altered in the liver or subcutaneous fat. After therapy T1 of the liver was reduced towards normal values in 4 patients. It is concluded that MRI might be a method to quantitate the amount of amyloid deposits in the tissue, and that the effect of therapy may be monitored with this technique.     

Primary pulmonary amyloidosis with multiple nodules

A 61-year old asymptomatic woman had a five-year history of pulmonary nodular lesions on routine radiographs. She underwent open lung biopsy, which revealed nodular lesions in the lungs and thickened pleura. Histological examination showed amyloid deposits in the pulmonary parenchyma and adjacent pleura. Congo Red staining of the specimen demonstrated green birefringence under polarized light. This affinity for Congo Red dye remained after potassium permanganate treatment, suggesting primary amyloidosis. Multiple nodular amyloidosis of the lungs should be included in the differential diagnosis of multiple pulmonary nodules.     

Double contrast small bowel enema in a case of selective duodeno-jejunal amyloidosis

Double contrast small bowel enema in a patient with selective amyloidosis of the duodenum and jejunum revealed an unusual radiologic pattern, mimicking multiple polyposis. Many submucosal polypoid lesions, sessile or pedunculated, were scattered throughout the duodenum and proximal jejunum. The lesions had smooth borders and did not show any retraction at the base. Other typical radiologic patterns of intestinal amyloidosis described in the literature were not observed in the present case. Differential diagnosis from multiple polyposis and diffuse lymphoproliferative neoplastic diseases is discussed.     

A case of diffuse-type primary hepatic lymphoma mimicking diffuse hepatocellular carcinoma

Primary hepatic lymphoma (PHL) is a very rare disease, especially in the diffuse type. We report a case of a middle-aged man with hepatitis C virus infection who developed diffuse-type PHL mimicking diffuse hepatocellular carcinoma (HCC). Contrast-enhanced computed tomography (CT) and magnetic resonance imaging showed diffusely infiltrated hypovascular lesions throughout the liver, but no intrahepatic portal venous thrombus was observed. Diffusion-weighted imaging and ¹⁸F-FDG positron emission tomography/CT, respectively, showed a very low apparent diffusion coefficient value and high FDG uptake. These findings were more suggestive of diffuse-type PHL than diffuse HCC. Liver biopsy examination confirmed a diagnosis of diffuse large B-cell lymphoma. Systemic staging revealed no evidence of nodal or bone marrow involvement, so PHL was diagnosed. The patient was treated with chemotherapy and achieved complete remission. We suggest that a combination of image modalities may enable differentiation of diffuse-type PHL from diffuse HCC.     

Constrictive Pericarditis Presenting as Isolated Ascites

Constrictive pericarditis is a rare cause of right-sided heart failure secondary to a stiff, non-compliant pericardium. Clinical presentation can vary considerably and requires a high suspicion for diagnosis. A 31-year-old male presented to the emergency department with complaints of abdominal distension. An abdominal ultrasound revealed large volume ascites; thus, it was initially suspected he had underlying cirrhosis. However, an echocardiogram revealed a diagnosis of constrictive pericarditis. It''s important for clinicians to consider constrictive pericarditis in a patient presenting with unexplained right-sided heart failure.