68Ga-DOTA-NOC PET/CT detects somatostatin receptors expression in von hippel-lindau cerebellar disease

A case of Von-Hippel Lindau (VHL) disease has been studied using 68Ga-DOTA-NOC PET/CT. PET/CT demonstrated the presence of somatostatin receptors within 2 focal areas in the cerebellum corresponding to the lesions detected by MRI. Considering the heterogeneous lesions localizations in VHL disease, PET/CT may be a useful imaging modality for diagnosing lesions of central nervous system and neuroendocrine lesions and for direct demonstration of somatostatin receptors for targeted treatment.     

Blood-fluid levels in the brain

17 cases reviewed prospectively over a period of 4 months highlight the varied appearance of blood-fluid levels in intracranial cystic lesions of different aetiologies; a finding which has not featured significantly in the medical literature. Four types of intracranial cysts demonstrating blood-fluid levels have been categorised according to the nature of the pathology, i.e. primary neoplasms of the brain, metastatic deposits to the brain in cases of extraneural malignancies, lesions of vascular aetiology and intraparenchymal bleeds secondary to trauma. The group of four primary intracranial neoplasms lists an oligodendroglioma, a recurrent tumour in a case of Von Hippel-Lindau syndrome, a Grade 3 astrocytoma and an acoustic schwannoma. Four cases of metastatic deposits to the brain were each secondary to primary malignant neoplasms of the breast, liver, ovary and lung. Of seven cases of a vascular aetiology, three resulted from arterial infarction, two from hypertension and one each from venous infarction and following anticoagulant therapy. Intracranial cysts within tumours have been postulated to occur secondary to a breakdown of the blood-brain barrier (BBB) rather than as a result of tumoural degeneration, as was thought probable earlier.     

Cystic tumors of the kidney in adults: radio-histopathologic correlations

The purpose of this study is to provide an updated pathologic-radiologic classification of cystic renal tumors and to assess imaging diagnostic capabilities. Eighty seven cases of cystic renal tumors explored with multimodality imaging (ultrasonography, CT, MRI, arteriography) and with histopathologic correlation are reported. The most common cystic carcinomas were multilocular cystic renal cell carcinoma (33%) and the pseudocystic necrotic carcinoma (31%), which usually belong to category IV. Less common cystic carcinomas were unilocular cystic renal cell carcinoma (6%) and renal cyst wall carcinoma (6%). The association of thin septa and large locules are suggestive findings for multilocular cystic nephroma, but such criteria are not specific enough to recognize benign multilocular cystic nephroma and to exclude multilocular cystic renal cell carcinoma. Since carcinomatous degeneration may occur within the wall of such tumors, especially in von Hippel Lindau disease, surgery is still required. The results of our study corroborate the Bosniak classification of cystic renal masses: no tumors belonged to the category I or II, all cystic masses which belonged to the category IV were malignant tumors, category III included benign and malignant tumors.     

Suprasellar hemangioblastoma in Von Hippel-Lindau disease: a case report

Hemangioblastomas of the sellar and suprasellar regions are extremely rare lesions. We present a case of a suprasellar hemangioblastoma occurring in a 40-year-old female with Von Hippel-Lindau disease.     

多发嗜铬细胞瘤的CT诊断价值

目的:分析多发嗜铬细胞瘤的影像学表现及动态增强特征,以提高其诊断准确性。方法:经手术病理证实的多发嗜铬细胞瘤9例,其中双侧肾上腺嗜铬细胞瘤7例,Von Hippel-Lindau病1例,腹膜后副神经节瘤并膀胱嗜铬细胞瘤1例。术前经螺旋CT和多层螺旋CT平扫、动脉期(30s)和门脉期(70～80s)扫描。对比剂采用欧乃派克或优维显,注射流率3ml/s。仔细复习CT扫描结果并与手术病理作回顾性对照分析。结果:9例嗜铬细胞瘤共18个病灶中,双侧肾上腺嗜铬细胞瘤7例,双侧肾上腺嗜铬细胞瘤并胰腺神经内分泌瘤和肾细胞肾癌1例(Von Hippel-Lindau病),腹膜后副神经节瘤并膀胱恶性嗜铬细胞瘤1例。良性病灶13个,恶性病灶5个。肿瘤呈圆形或椭圆形15个,不规则形3个。直径3.2～13.7cm,平均5.6cm。病灶直径<5.0cm3个,5.0～10.0cm13个,>10cm2个。肿瘤实质成分平扫CT值为34.2～53.0HU,平均42.7HU;动脉期CT值63.7～91.5HU,平均80.7HU;门脉期CT值75.1～126.4HU,平均98.1HU。8例双侧肾上腺嗜铬细胞瘤16个病灶中,6例两侧病灶大小、形态、密度、动态增强强化程度和强化方式相仿,2例两侧大小不同,坏死、囊变不同,但动态增强强化程度和强化方式相仿。结论:多发嗜铬细胞瘤包括双侧肾上腺嗜铬细胞瘤、副神经节瘤和脏器嗜铬细胞瘤,多位于双侧肾上腺,CT表现与肾上腺嗜铬细胞瘤相仿,同一病例不同肿瘤的大小、形态、坏死囊变、动态增强强化方式和强化程度相仿,少数肿瘤大小不同,坏死囊变存在差异。     

Arterial hypertension and horseshoe kidney during Von Recklinghausen's disease. Angiographic study and review of the literature (author's transl)]

Angiographic studies in a young girl aged 16 years who developed arterial hypertension during the course of Von Recklinghausen's disease, demonstrated the presence of an obliterated renal artery in a horseshoe kidney. The distal arterial segment was revascularized by two homolateral ureteral arteries. A full review of the literature revealed 30 cases of renal artery lesions for which angiography had been carried out in young people with neurofibromatosis. This demonstrates the low incidence of obliterative lesions (4 cases throughout the world) which are always associated with collateral vascularization. It was not possible to apply the usual surgical treatment in our case because of the associated horseshoe kidney.     

The natural history of renal lesions in von Hippel-Lindau disease: a serial CT study in 28 patients.

OBJECTIVE. Von Hippel-Lindau disease is a multisystem disorder predisposing to renal cysts and cancer. The growth and development of these renal lesions have not been documented previously. We reviewed serial CT scans to determine the rates and patterns of growth of renal lesions associated with von Hippel-Lindau disease. SUBJECTS AND METHODS. Twenty-eight patients with von Hippel-Lindau disease and renal involvement, including the spectrum from simple cysts to solid masses, had follow-up examinations for at least 1 year (mean, 2.4 years; range, 1-12 years) with serial contrast-enhanced abdominal CT. Renal lesions were measured and characterized. Surgical correlation was available in 12 patients. RESULTS. Two hundred twenty-eight lesions (eight lesions per patient) were detected. On the basis of their CT appearance, 168 lesions (74%) were classified as cysts, 18 (8%) as cysts with solid components, and 42 (18%) as solid masses. Among 12 patients with pathologic confirmation, the solid components of cystic lesions and solid lesions almost always contained renal carcinoma. The majority of cysts remained the same size (71%) or enlarged (20%); 9% became smaller or entirely involuted during the follow-up period. Although it is generally presumed that renal cysts are precursors to cancers, the transformation of a simple cyst to a solid lesion was observed in only two patients. Among the 42 solid lesions, all but two enlarged with time, with a mean doubling time of 10 months. CONCLUSION. The renal lesions associated with von Hippel-Lindau disease exhibited wide differences in growth. The majority of renal cysts grew slowly but some involuted. Transition to solid renal cancer was rare among cysts. Complex cystic and solid lesions contained neoplastic tissue that uniformly enlarged. These data may be used to help predict the progression of renal lesions in von Hippel-Lindau disease.     

Positron emission tomography in a patient with Von Recklinghausen disease and left dorsal neurofibrosarcoma

The development of neurofibrosarcomas in patients with Von Recklinghausen disease is a rare complication that can appear in the daily clinical practice. We report a clinical case with Von Recklinghausen disease and recurrence of a left dorsal neurofibrosarcoma diagnosed by Positron Emission Tomography with fluorine-18-fluoro-deoxyD-glucose (FDG-PET). We believe this work is important due to the relatively uncommon clinical presentation and the discussion on the utility of 18-FDG PET and other conventional imaging methods in the diagnosis of this entity.     

Von Hippel-Lindau disease: strategies in early detection (renal-, adrenal-, pancreatic masses)

Von Hippel-Lindau disease (VHL) is a hereditary syndrome characterized by a predisposition for bilateral and multicentric retinal angiomas, hemangioblastomas in the central nervous system (CNS), renal cell carcinomas, pheochromocytomas, islet cell tumors of the pancreas, and endolymphatic sac tumors, as well as cysts in the kidney, pancreas, and epididymis. This review focuses on developments in imaging of renal, adrenal, and pancreatic masses in VHL. Radiology still has a central place in managing of VHL. Radiologists should therefore be aware of the importances of MRI, CT, and US compared with other radiodiagnostic tools for these three organs. Since a conservative approach to the treatment of VHL lesions is now becoming more widely accepted, ongoing follow-up by careful radiological screening with US, and especially with MRI, will play a central role in managing the disease. We also give an overview of recent advances in the molecular biology of VHL, because the combination of imaging with (presymptomatic) DNA analysis has made early detection and screening of lesions possible and led to a reduction in morbidity and mortality. Received: 31 December 1997; Revision received: 5 May 1998; Accepted: 10 June 1998     

The hemophilic child. Post-traumatic cerebrospinal complications. Diagnostic protocol

The authors report their experience on 30 hemophilic children controlled at the Pediatric Institute G. Gaslini, Genoa, Italy; among the 30 patients, there were 4 cases of hemophilia A, and 1 of Von Willebrand disease. Various degrees of trauma in different sites had caused central neurological complications. In all cases CT, both in the immediate post-traumatic phase and later on, allowed both an early diagnosis and the follow-up of hemorrhagic lesions and late complications, even in absence of significant neurologic symptomatology; medical replacement treatment and neurosurgery, when needed, allowed a positive resolution of all cases. The authors believe this early-phase and follow-up diagnostic protocol, together with strict clinical and laboratory controls, to allow a prompt interdisciplinary therapeutic approach, which has preventive aims as well.     

Von Hippel-Lindau disease: a radiological essay

Von Hippel-Lindau disease is a progressive autosomal dominant disorder with multi-organ involvement. A variety of benign and malignant disease processes lie within the spectrum of disease processes associated with this condition. Early detection and treatment of complications is paramount in the management of these patients. The purpose of this pictorial review is to depict the various radiological manifestations that are commonly seen in this disease.     

Investigation of a family with von Hippel-Lindau syndrome.

A family with Von Hippel-Lindau syndrome has been investigated with Ultrasound, CT and MRI. The major lesions found were posterior fossa haemangioblastomas, retinal haemangioblastomas and renal cell carcinoma. Screening of family members has been undertaken due to the known autosomal dominant inheritance of this condition.     

Bladder neurofibromas causing ureteric obstruction in Von Recklinghausen's disease

A case of bladder involvement by Von Recklinghausen's disease with consequent hydronephrosis and hydroureters is presented. The intravenous urographic and ultrasonic appearances are correlated.     

Laser Navigation for Radiofrequency Ablation

A 45-year-old male with renal cell carcinoma secondary to von-Hippel Lindau (VHL) disease presented for radiofrequency ablation (RFA) of kidney tumors. Due to his prior history of several partial nephrectomies and limited renal reserve, RFA was chosen because of its relatively nephron-sparing nature. A laser guidance device was used to help guide probe placement in an attempt to reduce procedure time and improve targeting accuracy. The device was successful at guiding needle placement, as both tumors were located with a single pass. Follow-up CT scan confirmed accurate needle placement, showing an area of coagulation necrosis covering the previously seen tumor.     

Recurrent haematomas of the thigh: a case of von Willebrand's disease presenting to a sports clinic

Von Willebrand's disease is a relatively common mild form of haemophilia. It should be suspected in assessing sports injuries when excessive bleeding occurs in response to relatively mild trauma. Those with the disease should remain active but avoid contact sports. They should not take aspirin or non-steroidal anti-inflammatory drugs, which may exacerbate bleeding, and should be given supportive treatment to cover dental extraction, surgery, or significant bleeding episodes.

Key Words: von Willebrand's disease; haemophilia; haematoma; sports clinic

     

Ga-68 Somatostatin Receptor PET/CT in von Hippel-Lindau Disease

Von Hippel-Lindau (VHL) disease is a dominantly inherited familial cancer syndrome with a variety of benign and malignant tumors such as retinal and central nervous system hemangioblastomas, endolymphatic sac tumors, renal cysts and tumors, pancreatic cysts and tumors, pheochromocytomas, and epididymal cystadenomas. Cross-sectional modalities (computed tomography and magnetic resonance imaging) as well as ultrasound play a major role in the initial evaluation and follow-up of the various manifestations of VHL disease. Ga-68-labeled somatostatin receptor analogs already have a significant role in the diagnosis, staging, and therapy management of neuroendocrine neoplasms and neural crest tumors. Herein, we report a case presenting a variety of malignancies in VHL and showing the usefulness of Ga-68 somatostatin receptor PET/CT as a one-stop-shop imaging modality in the management of VHL disease.     

两种附着体义齿支持组织的应力比较分析

目的比较球帽附着体和栓道式附着体义齿支持组织的Von Mises等效应力分布。方法分别建立基牙牙周组织正常、吸收1/4、吸收1/3、吸收1/2的两种附着体义齿的三维有限元模型,采用垂直向加载力300N,模拟单侧后牙咬合状态,分析支持组织的Von Mises等效应力。结果基牙牙周组织不同状况下,栓道式附着体义齿的基牙和牙周膜最大Von Mises等效应力值小于球帽附着体义齿,缺牙区牙槽嵴最大Von Mises等效应力值大于球帽附着体义齿,但其分布相对较均匀。结论基牙不同牙周状况下,栓道式附着体义齿与球帽附着体义齿相比,其支持组织应力分布相对较均匀,应力集中范围小,可见栓道式附着体舌侧对抗臂的设计可以使支持组织受力更均匀,更有利于基牙健康。     

Percutaneous ultrasound-guided radiofrequency ablation treatment and genetic testing for renal cell carcinoma with Von Hippel-Lindau disease

Percutaneous ultrasound-guided radiofrequency ablation is increasingly being studied in the treatment of renal tumors. Because percutaneous ultrasound-guided radiofrequency ablation is a minimally invasive and nephron-sparing procedure, it is ideally suited for patients with a single kidney, multiple tumors, or contraindications to conventional surgery. We report on a patient with Von Hippel-Lindau (VHL) disease who had multicentric tumors in the single kidney that was successfully treated with percutaneous ultrasound-guided radiofrequncy ablation. The one-year follow-up showed that there was no local recurrence or metastasis. And genetic testing showed the patient had a T to G heterozygotic missense mutation at nucleotide 515 of VHL gene exon 1.     

Osteochondritis dissecans (OCD), an endoplasmic reticulum storage disease?: a morphological and molecular study of OCD fragments

Osteochondritis dissecans (OCD) fragments, cartilage and blood from four patients were used for morphological and molecular analysis. Controls included articular cartilage and blood samples from healthy individuals. Light microscopy and transmission electron microscopy (TEM) showed abnormalities in chondrocytes and extracellular matrix of cartilage from OCD patients. Abnormal type II collagen heterofibrils in “bundles” and chondrocytes with abnormal accumulation of matrix proteins in distended rough endoplasmic reticulum were typical findings. Further, Von Kossa staining and TEM showed empty lacunae close to mineralized “islands” in the cartilage and hypertrophic chondrocytes containing accumulated matrix proteins. Immunostaining revealed: (1) that types I, II, VI and X collagens and aggrecans were deposited intracellulary and (2) co‐localization within the islands of types I, II, X collagens and aggrecan indicating that hypertrophic chondrocytes express a phenotype of bone cells during endochondral ossification. Types I, VI and X collagens were also present across the entire dissecates suggesting that chondrocytes were dedifferentiated. DNA sequencings were non‐conclusive, only single nucleotide polymorphism was found within the COL2A1 gene for one patient. We suggest that OCD lesions are caused by an alteration in chondrocyte matrix synthesis causing an endoplasmic reticulum storage disease phenotype, which disturbs or abrupts endochondral ossification.     

Bone marrow scintigraphy in Paget's disease of bone

Sixteen patients with 20 lesions of Paget's disease of bone were studied with bone marrow scintigraphy (colloid), bone tissue scintigraphy and radiography. Bone marrow scintigraphy showed normal or increased colloid uptake in 15 of 20 pagetic lesions, and decreased uptake in 4. Bone tissue scintigraphy showed increased metabolic activity in all lesions and was useful in detecting polyostotic disease as well as the extent of the lesions. Conventional radiography most often showed the typical appearance of Paget's disease, but the changes observed were sometimes difficult to differentiate from malignant disease. However, a preserved or increased reticuloendothelial function in the pagetic lesion contradicts metastatic disease as a differential diagnosis. Bone marrow scintigraphy with radiocolloid is a valuable method in the analysis of Paget's disease of bone.