Cystic angiomatosis of bone: MR findings

Cystic angiomatosis of bone is a rare disorder characterized by widespread lytic bone lesions with or without associated soft tissue or visceral lymphangiomatosis [1–5]. The disorder is often initially incorrectly diagnosed as Langerhans cell histiocytosis [1, 2]. Unfortunately, biopsy of long bone lesions will often yield only fluid, thereby making a histologic diagnosis difficult. This report describes the MR findings in a patient with cystic angiomatosis of bone. We believe that the MR findings are highly suggestive of the correct diagnosis and that MR should eliminate the need for excisional biopsy in future cases.     

Disseminated bone angiomatosis and focal epilepsy

The authors report a case of diffuse angiomatosis of bone associated with focal epilepsy. This case confirms the usual absence of cerebromeningeal angiomatosis in cases with diffuse angiomatosis of bone and establishes a relationship between angioma of the dome of the skull and focal epilepsy.     

Primary bone tumours of the hand

Twenty-one primary bone tumours of the hand in children from 8 paediatric hospitals are reported. Osteochondromas and enchondromas were not included. Our material consisted of 16 patients with common tumours (3 Ewing's sarcoma, 5 aneurysmal bone cyst, 6 osteoid osteoma and 2 epidermoid cyst) and 5 patients with uncommon tumours (osteoma, simple bone cyst, haemangiopericytoma, capillary angiomatous tumour and benign ossifying fibroma or osteoblastoma). The X-ray diagnosis of the common tumours should have high concordance with histology, whereas that of uncommon tumours is much more difficult and uncertain. The characteristic features of Ewing's sarcoma are stressed as all our children with this tumour had a delayed diagnosis and a fatal outcome. Differential diagnosis with other short tubular bone lesions of the hand - specifically osteomyelitis - is discussed and the possibilities of microscopic diagnosis are stressed.     

Imaging characteristics of primary cranial Ewing sarcoma

Background: Ewing sarcoma accounts for 10–15% of all childhood malignant bone tumours and is second in prevalence to osteosarcoma. The skull bones are an unusual site of origin of primary Ewing sarcoma in children. Previous reports concentrate on the neurosurgical aspects and relatively good outcome compared to other bone tumours of the calvarium. Reported cases mainly describe the imaging characteristics on CT. Objective: To describe the MRI and CT features of primary cranial Ewing sarcoma. Materials and methods: The neuroimaging of three cases of primary cranial Ewing sarcoma are reviewed. Results: Our three cases show an extra-axial mass that is high attenuation on CT and low signal on T2-weighted MRI. Haemorrhagic components, dural extension and contrast enhancement are also characteristic features. Conclusion: CT attenuation and magnetic resonance signal characteristics reflect sheets of densely packed cells seen in Ewing sarcoma.     

The diagnosis and management of patients with idiopathic osteolysis

Idiopathic osteolysis or disappearing bone disease is a condition characterized by the spontaneous onset of rapid destruction and resorption of a single bone or multiple bones. Disappearing bone disorder is a disease of several diagnostic types. We are presenting three patients with osteolysis who have different underlying pathological features. Detailed phenotypic assessment, radiologic and CT scanning, and histological and genetic testing were the baseline diagnostic tools utilized for diagnosis of each osteolysis syndrome. The first patient was found to have Gorham-Stout syndrome (non-heritable). The complete destruction of pelvic bones associated with aggressive upward extension to adjacent bones (vertebral column and skull base) was notable and skeletal angiomatosis was detected. The second patient showed severe and aggressive non-hereditary multicentric osteolysis with bilateral destruction of the hip bones and the tarsal bones as well as a congenital unilateral solitary kidney and nephropathy. The third patient was phenotypically and genotypically compatible with Winchester syndrome resulting in multicentric osteolysis (autosomal recessive). Proven mutation of the (MMP2-Gen) was detected in this third patient that was associated with 3MCC deficiency (3-Methylcrontonyl CoA Carboxylase deficiency). The correct diagnoses in our 3 patients required the exclusion of malignant osteoclastic tumours, inflammatory disorders of bone, vascular disease, and neurogenic arthropathies using history, physical exam, and appropriate testing and imaging. This review demonstrates how to evaluate and treat these complex and difficult patients. Lastly, we described the various management procedures and treatments utilized for these patients.     

Aneurysmal bone cyst secondary to infantile cartilaginous hamartoma of rib

We report the first case, in a 4-month-old girl, of an aneurysmal bone cyst secondary to infantile cartilaginous hamartoma of the rib. Infantile cartilaginous hamartoma of the rib (benign mesenchymoma) is a large, expansile tumour that is characterised by cartilaginous, vascular and primitive-appearing stromal and mesenchymal elements. Most cases are diagnosed at less than 1 year of age and may even be congenital. Aneurysmal bone cyst may be a secondary lesion to pre-existing tumours such as giant cell tumours, osteoblastomas, angiomas and chondroblastomas. This unique case is presented with radiological and pathological findings. Received: 15 November 1996 Accepted: 18 February 1997     

Primary vertebral tumours in children

20 cases of primary benign and malignant bone tumours in children were reported. The most common tumours were Ewing's sarcoma, aneurysmal bone cyst, benign osteoblastoma and osteoid osteoma. Some rare primary bone tumours in children (osteochondroma, chondroblastoma?, primary lymphoma of bone and neurofibromatosis with unusual cervical spinal changes) were also reported. The authors believe that radiographic findings together with clinical history and clinical examination may yield a high percentage of accurate diagnoses. Although microscopy is essential in the final diagnosis, the microscopic report should be viewed with caution.     

Hepatic neoplasms in childhood – a clinicopathologic study

Primary hepatic tumours are rare in childhood. We observed nine cases between 1976 and 1995, of which eight were hepatoblastomas and one a mesenchymal hamartoma. A male-to-female ratio of 2:1 was noted; 78% of the cases occurred in children below 2 years of age. Five hepatoblastomas were of the pure epithelial type; mesenchymal components encountered in the mixed type were cartilage, bone, and spindle sarcomatous cells.     

Bacillary angiomatosis in a child undergoing chemotherapy.

Bacillary angiomatosis is an infectious disease of the skin and viscera characterized by vascular lesions, originally described in patients with human immunodeficiency virus infection. There are also case reports of bacillary angiomatosis occurring in immunocompetent patients and in noninfected patients with suppressed immune function. We report a case of bacillary angiomatosis in a child undergoing chemotherapy for acute leukemia.     

Gonadal tumours in children]

Gonadal tumours are rare in children. Benign tumours are more frequent in girls than in boys (3 cases among 4 cases in girls and 1 case among 2 or 3 cases in boys), due to the prevalence of functional ovarian pathology (functional cysts, ovarian torsion). Whatever the clinical presentation of these tumours (mainly abdominal pain or mass in girls, scrotal mass in boys) and even before an emergency procedure, radiological investigations (abdominal x-rays, ultrasound scans) and biological ones (alpha-foeto-protein and human chorionic gonadotropin dosages) should be performed in order to precise the diagnosis. In benign tumours (mature teratoma, cystadenoma), a conservative surgical procedure (tumorectomy with ovarian preservation) should be attempted. Malignant or potentially malignant tumours (malignant germ cell tumours, stromal tumours) have an excellent prognosis, only if they are treated with a close collaboration between surgeons and oncologists.     

2 cases of congenital sternal cleft

Two cases of upper sternal cleft are reported, the first operated on twenty nine months, the second on six weeks. The authors present a revision of the surgical technics proposed for correction of this rare malformation. The result is better and surgery easier when performed shortly after birth. There two cases had a facial angiomatosis associated.     

Bilateral ocular involvement in encephalocraniocutaneous lipomatosis.

We report a case of encephalocraniocutaneous lipomatosis (ECCL), a rare congenital neurocutaneous syndrome, with cutaneous, ocular and neurologic malformations. The key features of ECCL are epibulbar choristomas, nevus psiloliparus, and intracranial lipomas. A full-term newborn presented at birth bilateral conjunctival tumours, right facial papulonodular lesions and an alopecic lesion consistent with lipoma on the right frontoparietal area. Brain imaging studies showed arachnoid cyst, enlarged lateral ventricle, cortical dysplasia, lipoma and leptomeningeal angiomatosis in the right hemisphere. The results were consistent with ECCL. Since ocular and skin involvement is a hallmark of the condition, children with epibulbar congenital lesions and skin lesions suggestive for ECCL should undergo a brain imaging study.     

Gorham-Stout Syndrome with Chylothorax in a Six-Year-Old Boy

Gorham-Stout syndrome, also called “disappearing bone disease, diffuse cystic angiomatosis of bone, disseminated lymphangiomatosis, Gorham’s vanishing bone disease, phantom bone disease or idiopathic massive osteolysis, is a rare disease of unknown etiology and pathogenesis. It is characterized by rapidly progressive localized massive osteolysis associated with proliferation of vascular structures of benign origin in which the absence of new bone formation is representative. When it is complicated by chylothorax, the prognosis is poor. The authors report a 6-year-old boy with Gorham-Stout syndrome who presented with pleural effusion showing features of chylothorax, who responsed poorly to currently available therapeutic modalities.     

儿童骨嗜酸细胞性肉芽肿的诊断与治疗

目的对我院22例儿童骨嗜酸细胞性肉芽肿的临床资料进行分析,讨论其临床病理特点及影像学改变,探讨其治疗方法。方法收集2000年以来我院22例骨嗜酸细胞性肉芽肿病例,结合文献对其临床表现、诊断、治疗等进行总结分析。结果22例临床诊断为骨嗜酸细胞性肉芽肿,15例经病理证实,予手术刮除病灶或病灶加植骨治疗;7例采取非手术治疗,全部病例随访2个月～3年,其中2例合并韩-薛-柯病的患儿检查化疗,2例手术病人于2年后复发,予再次手术治疗,其余病例复查X光片病灶愈合良好。结论骨嗜酸细胞性肉芽肿多见于儿童与青少年,以骨质破坏、组织细胞增生和嗜酸性细胞浸润为主要病理特点,临床症状不典型,X线片是主要诊断方法,CT和MRI对其诊断帮助不大,治疗上应依据病灶情况选择相应的治疗方案。     

Calcinosis cutis,osteoma cutis,poikiloderma and skeletal abnormalities (COPS syndrome) — a new entity?

A 4-year-old boy with subcutaneous tumours is described. These tumours were calcified and had secondary osteoma formation. In addition the patient showed poikiloderma on the face and less prominently on arms and legs. X-ray films of the distal metaphyses of the radius, ulna and tibia revealed irregular mineralisation. Repeated laboratory tests revealed no abnormalities of fat, bone and mineral metabolism. This patient showed a unique combination of symptoms. We propose to call this syndrome: COPS-syndrome (Calcinosis cutis,Os-teoma cutis.Poikiloderma andSkeletal abnormalities).     

Use of interferon in a case of hepatic hemangioma]

Hepatic hemangioendothelioma can have a fatal outcome. After failure of classic therapies, and when surgery or arterial embolization are not possible, those benign tumours may benefit from interferon alpha treatment. CASE REPORT: We report a case of a 14-month-old infant who presented with hepatic hemangiomatosis and cardiac failure. The disease can neither be controlled by steroids nor by radiotherapy associated with digitalo-diuretic treatment. Due to the important vascular volume of the tumour, neither surgical care nor arterial embolization were possible. Thus this infant was treated for ten months by interferon alpha. The evolution was favourable: cardiac failure, calcifications and volume of the angiomatosis were regressive. CONCLUSION: Interferon alpha treatment helps to control cardiac failure and the course of hepatic hemangioma in childhood.     

儿童四肢长骨病理性骨折手术治疗60例

目的 总结儿童四肢长骨病理性骨折的手术治疗经验,探讨提高临床诊断和治疗水平的方法.方法 2005年1月至2010年3月作者收治长骨病理性骨折患儿74例,其中60例采用手术治疗,在确诊原发疾病的同时,给予病灶彻底清除及植骨,并对骨折进行一期内固定处理.患儿出现患肢疼痛等症状的时间为1 d至2年,出现病理性骨折的时间为2 ...     

Reversible skeletal changes after treatment with bevacizumab in a child with cutaneovisceral angiomatosis with thrombocytopenia syndrome

Cutaneovisceral angiomatosis with thrombocytopenia (CAT) syndrome is a rare vascular disorder of the skin and gastrointestinal tract for which there is no standard treatment. We present a case in which a child with CAT syndrome was treated with bevacizumab, a vascular endothelial growth factor inhibitor, and subsequently developed asymptomatic metaphyseal bone lesions. Though not previously described as a side effect, we hypothesize that the use of bevacizumab in a child with active epiphyseal growth plates caused these radiographic lesions. Because of the potential for altered bone growth and metabolism, children receiving VEGF inhibitors should be monitored closely for bony toxicity.     

DIAGNOSTIC AIDS FOR BENIGN TUMOURS OF THE LIVER IN CHILDREN

ABSTRACT. Holmin, T. and Kullendorff, C. M. (Departments of Surgery and Paediatric Surgery, University of Lund, Sweden). Diagnostic aids for benign tumours of the liver in children. Acta Paediatr Scand, 70:755,.–Primary benign tumour of the liver in 2 children was successfully extirpated. The tumours had appeared as a palpable abdominal mass. Laboratory examinations, pulmonary X-ray and urography were in the main normal. Abdominal plain films revealed an expansive process. Ultrasonography and computerized tomography showed in one of the cases a left-sided homogeneous tumour of the liver. These non-invasive methods of investigation are easy to perform in children and give ample information. Angiography appears to be no longer necessary in the preoperative investigation. The treatment of localized benign tumours is mainly surgical. With the exception of hemangioma, the prognosis in cases of benign hepatic tumour is good.     

Cushingoid adrenal hyperplasia in infancy

Cushing's syndrome, a characteristic pattern of obesity with hypertension due to the hyperfunction of the adrenal cortex, is relatively rare in infancy. Thirty-six infants have been reported in world literature, most of whom have had adrenal tumours. There are only eight reported cases of infants under the age of 1 year with adrenal hyperplasia responsible for Cushing's syndrome. This is a report of an 8 month old child with bilateral nodular adrenal hyperplasia.