Radiation-induced tibial sarcoma in a treated case of hind foot angiomatosis

Hemangiomatosis with osteolysis, osteosclerosis and loss of bony definition is an uncommon disease entity. Many forms of treatment have been used, varying almost from case to case. The use of radiation therapy has proved successful in the control of the disease process in reported cases. The current case of hind foot hemangiomatosis went on to develop sarcoma 17 years later in the uninvolved tibia at the margin of the radiation field, which proved to be fatal to the patient. Treatment by radiotherapy had permitted normal function for 15 years. This case highlights the difficulties of management of skeletal angiomatosis based on anatomic location and emphasizes the need for judicious planning and selection of the mode of delivery of radiotherapy.     

Intraosseous malignant peripheral nerve sheath tumor in a patient with neurofibromatosis

Malignant peripheral nerve sheath tumors (MPNSTs) are uncommon sarcomas that almost always arise in soft tissue. They can develop in pre-existing neurofibromas or schwannomas, de novo from peripheral nerves, or following radiation therapy. Primary intraosseous MPNST is rare and has been reported most frequently in the mandible. Of the reported cases involving the long bones, none has been associated with neurofibromatosis type 1 (NF-1). We report a case of MPNST arising in the femur in a patient with NF-1.     

Malignant fibrous histiocytoma associated with a bone infarct in a patient with hereditary bone dysplasia

Hereditary bone dysplasia (HBD) is an extremely rare clinicopathological entity manifested by diaphyseal medullary stenosis and cortical bone thickening associated with a propensity for fractures affecting the long tubular bone. Malignant transformation has been reported to occur at an alarming frequency. The hereditary pattern appears to be autosomal dominant. In this paper we present the case of a 19-year-old man with hereditary bone dysplasia who was unaware of his underlying condition until he presented with malignant transformation arising in an area of bone infarct of the left tibia.     

Slipped capital femoral epiphysis in a patient with type II autosomal dominant osteopetrosis

We report on a 13-year-old boy who had a slipped capital femoral epiphysis and was found to have type II benign autosomal dominant osteopetrosis. This association has not previously been reported.     

Sudden death due to rupture of major aortopulmonary collateral arteries in a patient with tetralogy of Fallot and pulmonary atresia

We report a case of fatal mediastinal hemorrhage in a 20-year-old man caused by rupture of the major aortopulmonary collateral arteries (MAPCAs). The patient had an unoperated tetralogy of Fallot with pulmonary atresia. Plain chest radiograph and computed tomography showed a large hematoma in the upper mediastinum. Previous cardiac angiography, performed 6 years previously, demonstrated markedly tortuous vascular structures arising from the inferior aspect of the aortic arch. In this case, the mediastinal hemorrhage was thought to be due to rupture of the MAPCAs. If a patient presents with sudden cardiac arrest and mediastinal dilatation, and unoperated congenital heart disease is suggested by a plain chest film, the radiologist should consider the possibility, although rare, of mediastinal hemorrhage resulting from rupture of the MAPCAs.     

Simultaneous occurrence of a supra- and an infratentorial glioma in a patient with Ollier’s disease: more evidence for non-mesodermal tumor predisposition in multiple enchondromatosis

A case is presented in which two neuro-ectodermal tumors, an infra- and a supratentorial glioma, developed in a young man with multiple enchondromatosis of Ollier’s disease. This is the third such case of multifocal low-grade glioma in Ollier’s disease, suggesting a predisposition for non-mesodermal tumors in Ollier’s disease. The related condition of multiple enchondromatosis and hemangiomas (Maffucci’s syndrome) is well known for its malignant potential, developing both mesodermal and non-mesodermal tumors. Along with other authors, we support the concept of two variants of the same disease with a predisposition to development of tumors from various germ layers.     

Skeletal abnormalities of hands and feet in Laurence-Moon-Bardet-Biedl (LMBB) syndrome: a radiographic study

 Objective. To identify radiological changes of the hands and feet in a large group of patients with Laurence-Moon-Bardet-Biedl syndrome. Design. Postero-anterior views of hands and feet were obtained and analysed. Patients. The material consists of 43 Scandinavian patients with the syndrome (24 males and 19 females; age 3 weeks to 57 years, median 23 years at the time of radiological examination). Results and Conclusions. Polydactyly of the hands and feet is one of the main criteria. This was noted clinically in 33 of 43 patients, but all but 3 had been operated on before this radiological study. Remnants of the extirpated finger or toe noted as exostoses, additional joint surfaces of duplication were found in half the hands and feet, while the remainder showed no radiological changes. Other features found were short, broad bones and flat joint surfaces of the metacarpophalangeal or metatarsophalangeal joints. We also found a high frequency of short or long ulna in relation to the radius and Madelung deformity of the wrist in several patients. Thus, the radiographs showed several non-specific normal variations besides remnants or postoperative changes after polydactyly.     

Comparison of inversion recovery fast spin-echo (FSE) with T2-weighted fat-saturated FSE and T1-weighted MR imaging in bone marrow lesion detection

 Objective To prospectively compare inversion recovery (IR) fast spin-echo (FSE) with T1-weighted spin-echo (SE) and T2-weighted chemical-shift fat-saturated (FS) FSE magnetic resonance sequences in the detection of bone marrow abnormality. Design. Twenty-nine sets of T1-weighted SE [400–640/10–20 (TR/TE)], T2-weighted FS-FSE [2400–3800/91–112/8 (TR/TE/ETL)], and IR-FSE [3700–6000/12–14/170/8 (TR/TE/T1/ETL)] images were acquired with a 1.5-T magnet in 27 patients with bone marrow lesions. The visibility, margination, and extent of 41 lesions, image quality, contrast, and artifacts were qualitatively and quantitatively compared. Results. The lesions were more conspicuous on the IR-FSE than on the T1-weighted SE and T2-weighed FS-FSE images. The extent of lesions was similar for all three sequences. Image quality was better and there were fewer motion artifacts on the T1-weighted images. The mean lesion contrast-to-noise ratio was significantly higher on the T1-weighted images (p<0.05). Conclusion. The IR-FSE sequence is highly sensitive for detecting bone marrow pathology, with scan time comparable to the T1-weighted SE and T2-weighted FS-FSE sequences.     

Malignancy in chronic ulcers and scars of the leg (Marjolin's ulcer): a study of 21 patients

Objective. To study the imaging features of patients with chronic ulcers of the leg that were associated with malignancy. Design and patients. All patients who on biopsy were proven to have malignancy – the majority of which were squamous cell carcinoma – were included in a prospective study. Ulcers limited to the foot were excluded but ulcers of the leg which extended into the foot were included. Amputation was performed in all but two patients, due to pain, bleeding or tissue necrosis. Results. The etiology was multifactorial. The mean duration of the ulcers was 36 years including venous ulcers, extensive scarring of the leg secondary to infection, injury or burns. One ulcer was secondary to a snake bite. The remainder, usually in the upper part of the leg, had repeated episodes of blunt trauma or knife wounds, which were also complicated by infections which failed to heal or, if they healed, regularly recurred. Although arterial insufficiency was not primary in any patient, most were of advanced age and it may have been an element in some patients. Despite infection, osteomyelitis was present in only one patient. The essential features were bone destruction, soft tissue mass and periosteal reaction. The bone destruction was visible on the radiographs in all but one case. The soft tissue masses varied in size but in general were very large. The periosteal reaction varied in type but most commonly was lamellated. The classic undulating solid periosteal reaction of venous stasis was only occasionally present. The periosteal reaction was nonspecific in the majority of cases and did not aid in the diagnosis or etiology. MRI and CT studies were performed in six patients. These were helpful in defining the extent of bone destruction and periosteal reaction but were not essential in management. Conclusion. Chronic ulcer present for decades that then undergoes malignant change is a disease of developing countries where patients only consult physicians when they have developed complications such as pain, bleeding or tissue necrosis. Chronic ulcers may require to be biopsied at regular intervals as malignant change in these ulcers is directly related to their duration. Received: 25 January 2000 Revision requested: 14 April 2000 Revision received: 9 January 2001 Accepted: 15 February 2001     

Impaired myocardial accumulation of 15-(p-iodophenyl)-9-(R,S)-methylpentadecanoic acid in a patient with hypertrophic cardiomyopathy and exercise-induced ischemia due to vasospasm

We encountered a patient with hypertrophic cardiomyopathy complicated with exercise-induced myocardial ischemia. Exercise-stress 99mTc-tetrofosmin imaging demonstrated reversible ischemia in the lateral wall, whereas resting fatty acid imaging with a new beta-methyl branched fatty acid analogue, I-123-15-(p-iodophenyl)-9-(R,S)-methylpentadecanoic acid (123I-9-MPA), showed impaired uptake and accelerated washout kinetics in the inferoapical and posteroseptal walls but not in the ischemia-related region. These findings suggest that the metabolic derangement is closely related to cardiomyopathy per se rather than exercise-induced myocardial ischemia in this patient with hypertrophic cardiomyopathy and a spastic coronary lesion so that myocardial perfusion and 123I-9-MPA imagings may contribute to clarifying the etiological background of impaired myocardial fatty acid metabolism.     

Early changes in the apparent diffusion coefficient (ADC) in a mouse model of Sandhoff's disease occur prior to disease symptoms and behavioral deficits

Sandhoff's disease is a lysosomal storage disease in which the ganglioside GM2 accumulates in lysosomes. It has been reported that MRI cannot detect abnormalities in spin echo images in clinically presymptomatic Sandhoff's disease patients. Because one of the results of GM2 accumulation is cell swelling and lysosomal distension, our goal was to determine if changes in the diffusion of water is perturbed. We utilized the MRI imaging modality diffusion‐weighted imaging to measure the apparent diffusion coefficient in a mouse models of Sandhoff's disease, the hexb?/? mouse, and determined if diffusion‐weighted imaging could be utilized to detect early changes prior to behavioral or overt disease symptom onset. Here we report for the first time a comprehensive behavioral characterization of the hexb?/? mouse in conjunction with the apparent diffusion coefficient measurement. Our data indicate that the apparent diffusion coefficient decreases in the hexb?/? mouse in many but not all brain regions prior to disease symptoms (<3.5 to 4 months of age) and behavioral deficits (3 months of age). The magnitude of the decrease ranged from 4‐18%. Magn Reson Med, 2009. © 2009 Wiley‐Liss, Inc.