Scintigraphic findings and follow up in Erdheim-Chester disease

Two cases of Erdheim-Chester disease are presented: a 26-year-old white male patient with lipoidgranulomatosis of numerous long and flat bones and infiltration of pericardium, pleura, liver, spleen, thyroid, skin, conjunctiva, gingiva, and false vocal cord; and a 54-year-old white male with involvement of bones, orbits, brain, pericardium, and retroperitoneum. The scintigraphic findings in this disease are described, and a comprehensive review of the 27 previously reported cases is given including an assessment of the value of scintigraphy for diagnosis and follow up of this rare disease.     

Erdheim-Chester disease associated with intramedullary spinal cord lesion

Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis. We present a case of a 56-year-old male with ECD. As time progressed, involvement of the orbital fossa, cranial convexity, spinal cord, brain stem, thyroid, lung, retroperitoneum, lower extremity bones and skin were found. Previously reported cases reveal the frequency of ECD with spinal cord involvement is rare. Although this was a presumed diagnosis based on other lesions, our case is the first in which both intramedullary and epidural masses are present.     

Case report: benign gastric ulcer erosion leading to a gastropericardial fistula in a patient with no known risk factors

A 53-year-old homeless male presented to the emergency department with sudden onset chest pain and was found to have a large pneumopericardium on chest X-ray. The patient had no history of surgery, hiatal hernia, or ulcer disease. A contrast-enhanced computed tomography scan demonstrated the pneumopericardium and raised concern for possible gastropericardial fistula from a benign gastric ulcer. An esophagogastroduodenoscopy confirmed the fistula, as did surgery, and intraoperatively vegetable particular matter was removed from the anatomic space continuous with the pericardium.     

Erdheim-Chester disease in a child with MR imaging showing regression of marrow changes

Objective Erdheim-Chester disease is a disseminated xanthogranulomatous infiltrative disease of unknown origin that generally presents in adulthood. A review of the English-language literature demonstrated that pediatric cases were extremely rare, and to our knowledge, only two cases, a 7- and 14-year-old, have been published. Design and patient We report a case of Erdheim-Chester disease in a 10-year-old girl evaluated with MR imaging. Radiographs revealed typical bilateral, symmetric osteosclerosis of the metaphyseal regions of long bones of the upper and lower extremities. Results A histologic examination demonstrated foamy histiocytes in bone marrow smears. Bilateral symmetric low signal intensities of both proximal tibiae and distal femurs were demonstrated on T1-weighted MR images. After oral steroid therapy for 8 months, follow-up MR imaging showed remarkable restoration of normal high signal intensity in both the tibial and femoral metaphyses. Conclusion To our knowledge, this may be the first case of Erdheim-Chester disease that showed normal restoration of the abnormal signal intensities in the metaphyses of long bones after steroid therapy.     

Reliable genetic identification of burnt human remains

The identification of severely burnt human remains by genetic fingerprinting is a common task in forensic routine work. In cases of extreme fire impact, only hard tissues (bones, teeth) may be left for DNA analysis. DNA extracted from burnt bone fragments may be highly degraded, making an amplification of genetic markers difficult or even impossible. Furthermore, heavily burnt bones are very prone to contamination with external DNA.We investigated whether authentic DNA profiles can be generated from human bones showing different stages of fire induced destruction (well preserved, semi-burnt, black burnt, blue–grey burnt, blue–grey–white burnt). DNA was extracted from 71 bone fragments derived from 13 individuals. Obtained genetic patterns (STRs and mtDNA sequences) were compared to the genetic pattern of the respective bodies.Our results show that the identification via DNA analysis is reliably and reproducibly possible from well preserved and semi-burnt bones. In black burnt bones the DNA was highly degraded and in some cases no nuclear DNA was left, leaving mitochondrial DNA analysis as an option. Blue–grey burnt bones lead only sporadically to authentic profiles. The investigation of blue–grey–white burnt bones barely led to reliable results.     

Primary heart angiosarcoma detected by computed tomography and magnetic resonance imaging

We report a case of primary heart angiosarcoma and its appearance on plain and post-contrast computed tomography and magnetic resonance imaging in 21-year-old woman. The tumour involved the right atrium, expanded superiorly among the superior vena cava, ascending aorta and innominate vein, and infiltrated the pericardium. The tumour was disseminated into lungs, liver and bones at the time of its clinical presentation. Received 24 January 1997; Revision received 13 March 1997; Accepted 28 April 1997     

Perikardaplasie

Congenital absence or defects of the pericardium are very rare. The incidental finding of a congenital absence of the pericardium in the case of a 55-year-old man who died after committing suicide by cutting his throat is reported. The autopsy revealed a complete absence of the pericardium with a hypertrophic heart (510 g). The man had suffered from non-specific chest pains and dyspnoea which could be attributed to bronchial asthma.     

Diagnostic imaging of foot mycetomas: A report on two cases

Mycetomas caused by aerobic actinomycetes are called actinomycetomas. It is primarily localized in subcutaneous tissue but it can spread to different tissue planes including the skin, deep tissues and structures and eventually the bones. We report the cases of 2 patients referred for evaluation of soft tissue masses involving the foot. A 40-year-old male and a 25-year-old male, in both cases MRI was performed to assess the extension, which was later completed by a CT scan. MRI revealed a low intensity matrix that represents fibrosis containing multiple high intensity lesions corresponding to the mycetoma grains. Within some of the lesions a low-intensity focus was identified. This "dot-in-circle sign" on an MRI is a pathognomonic feature of mycetoma. The purpose of this work is to describe the characteristic MRI appearance of foot mycetoma.     

Hyperphosphatasemia: CT assessment

Hyperphosphatasemia is a rare disorder of uncertain cause. A 39-year-old male exhibiting striking skeletal deformities consisting of enlargement of the skull, enlargement and bowing of the long bones, neurosensorial symptoms and elevated alkaline phosphatase is the subject of this report. In the past, the radiological workup has been limited to plain films. We advocate CT in the assessment of neurological signs and symptoms which may complicate this disease. Received 16 August 1995; Revision received 4 January 1996; Accepted 24 January 1996     

Giant cell tumor of talus,a case report of rare site

Giant cell tumor (osteoclastoma) of talar bone is a rare entity and is seen more commonly in the third decade of life. We report this disease entity in a 21-year-old male who presented with painful swelling of the left ankle. His conventional radiography revealed an osteolytic lesion in the talus, which was further evaluated using computed tomography and magnetic resonance imaging. Intralesional curettage and autologous bone grafting was performed following which patient's pain and swelling disappeared. Complete range of movement at the ankle joint was regained with minimal restriction of movements at the subtalar joint. There was no evidence of recurrence at 6 months follow up.Giant cell tumor (GCT) is most commonly seen in the distal femur [Stoker DJ. Bone tumors (1): general characteristics benign lesions. In: Grainger RG, Allison DJ, editors. Diagnostic radiology a textbook of medical imaging. 3rd ed. New York: Churchill Livingston; 1997. p. 629–1660], proximal tibia, distal radius and the proximal humerus in descending order of frequency. GCT is [Campanacci M, Baldini N, Boriani S, Sudanese A. Giant cell tumor of bone. J Bone Joint Surg Am 1987; 69:106–14; Wold LE, Swee RG. Giant cell tumor of the small bones of the hand and feet. Semin Diagn Pathol 1984; 1:173–84] uncommon in the small bones of the hand and feet and a very few cases have been reported at these sites. GCT involving the talus is very uncommon and has very rarely been reported. The treatment of choice is intralesional curettage. In recent times, cementing and cryotherapy have increasingly been used with encouraging results. Recurrence is very common in this locally aggressive benign neoplasm.     

Erdheim-Chester disease associated with renal involvement and thrombocythemia

Erdheim-Chester disease is a rare, distinctive lipoidosis characterised by deposition of cholesterol-laden foam cells in the bone marrow associated with a granulomatous reaction affecting the lungs, pericardium, heart and retroperitoneum. A case of Erdheim-Chester disease is presented, with typical skeletal involvement (i. e. diffuse sclerosis of the diaphyses and metaphyses of the long tubular bones) and atypical features including thrombocythemia and renal involvement which was documented on computed tomography. Other features of the reported case include gonadttrophin insufficiency and diabetes insipidus. Correspondence to: M. F. Bellin     

Camurati-Engelmann disease: a late and sporadic case with metaphyseal involvement

A 40-year-old white man with a 3-year history of mild to severe right thigh and knee pain was referred for radiographic investigation. Radiographs show a fusiform, bilaterally symmetrical enlargement of the diaphyses and metaphyses of the long bones (femur, tibia, fibula, radius and ulna). A narrowed medullary cavity is illustrated on CT scan of the femur. All bones show periosteal and endosteal bone formation. There is no history of familial involvement, trauma, infection or systemic illness. Blood chemistry could not point out any abnormality. Radiographic findings and clinical history suggest the diagnosis of Camurati-Engelmann disease, also known as progressive diaphyseal dysplasia (PDD). This case is of interest because of its rare metaphyseal involvement, mild form and sporadic presentation. Received: 4 December 1997; Revision received: 3 March 1998; Accepted: 5 March 1998     

Hyperostotic Esthesioneuroblastoma: Rare Variant and Fibrous Dysplasia Mimicker

A 65-year-old male presented with a 3-year history of orbital symptoms. An imaging-based diagnosis of fibrous dysplasia involving the skull base was made at another institution. CT showed a diffuse sinonasal mass and ground-glass appearance of the bones of the anterior skull base with bony defects and mucocele formation. MRI demonstrated an accompanying intracranial and orbital rind of soft tissue mass along the hyperostotic bones. FDG-PET showed corresponding intense hypermetabolism. Small cysts were observed at the tumor-brain interface. Biopsy revealed esthesioneuroblastoma with bone infiltration that is compatible with the hyperostotic variant of esthesioneuroblastoma. There are a few cases of hyperostotic esthesioneuroblastoma reported in the literature.     

Case report: Aneurysmal bone cyst of the ethmoid bone

Aneurysmal bone cysts (ABCs) are benign, slow growing expansile lesions usually found in long bones or vertebrae. Plain radiography reveals expansion of bone and cortical thinning. MRI may assist in diagnosis by virtue of its ability to demonstrate blood-fluid levels, which is a characteristic finding in these lesions. Very few cases of ABC of the paranasal sinuses have been reported in the literature. We present MRI findings of ABC of the ethmoid sinus in a 19-year-old male.     

Fatal wounds to the thorax caused by gunshots from blank cartridges

Lethal injuries of the thorax due to shots fired from blank cartridges calibre 8 mm are reported in three cases. The muzzle of the weapon was in contact with the left side of the breast (contact discharge) and injuries to bones were absent in all three cases. In two of the cases the pericardium was not involved but the anterior wall of the right heart ventricle was ruptured and death was due to cardiac tamponade. In the third case the pericardial sac and the left ventricle were both ruptured and the victim died due to rapid exsanguination. The cases demonstrate that the gas pressure from the exploding propellent of blank ammunition can be powerful enough to penetrate the thoracic wall. Received: 26 May 1997 / Received in revised form: 9 September 1997     

动脉硬化性脑白质病的CT表现与临床分析

目的 :探讨动脉硬化性脑白质病的临床与CT表现特点。方法 :收集 10 0例动脉硬化性脑白质病的临床与CT资料进行综合分析。结果 :10 0例的CT表现为 :弥漫性脑白质低密度改变 ,主要分布在双侧脑室旁及半卵圆中心白质区 ,病灶多呈条带状及月晕状。合并脑萎缩 90例 ;脑梗塞 76例 ,其中 2 5例有大的梗塞灶 ,其余为腔隙性梗塞 ;脑出血 9例 ,其中位于壳核 5例 ,丘脑 3例 ,小脑 1例 ;有 15例伴发基底节区软化灶。增强扫描 8例 ,显示病灶无明显增强。结论 :动脉硬化性脑白质病是发生于老年人的缺血性脑血管病 ,高血压动脉硬化是其主要发病因素。     

心包隐窝的MRI所见与解剖对照研究

目的：熟悉正常心包隐窝的ＭＲＩ表现，对诊断与鉴别诊断具有重要的临床应用价值。材料与方法：选用胸部断解剖标本４例，心包完整离体心脏标本２例。搜集经ＭＲＩ检查无心包病变患者图像２１例。结合解剖，分析ＭＲＩ上正常心包各隐窝的形态、位置、毗邻关系和出现率。结果：（１）主动脉上窦：ＭＲＩ显示２０例，占９５％，其形态有半圆形、三角形、新月形和不规则形。（２）横窦：７１．４％病例ＭＲＩ显示横窦，呈弧线或菱形腔隙     

缩窄性心包炎磁共振成像的诊断研究

目的评价ＭＲＩ对缩窄性心包炎的诊断和鉴别诊断价值及其限度。材料与方法２６例经临床资料、心电图、Ｘ线和（或）手术证实的缩窄性心包炎患者，行心电图门控ＳＥ和ＧＥ电影ＭＲＩ扫描，ＭＲＩ所见与３０例正常成人志愿者行对比分析。结果缩窄性心包炎的主要ＭＲＩ征象有：心包脏壁层界限不清，呈不规则增厚（厚度＞４ｍｍ），以右心房室侧多见；增厚的心包呈中等信号或中等度低信号，内部信号不均，其中可有斑状极低信号或高信号；室间隔僵直，心室内径缩小，室壁运动减弱；右心房扩大，上下腔静脉扩张，少数病例左心房扩大，肺静脉扩张；可合并房室瓣少至中等量返流。结论ＭＲＩ很容易确定缩窄性心包炎的心包增厚，具有诊断和鉴别诊断的价值，但其价格昂贵、对钙化不敏感为其主要限度。