Congenital malignant rhabdoid tumour of the skin

A case of congenital extra-renal rhabdoid tunour is described. Renal involvement was documented late in the course of the illness. Pertinent clinical information concerning paediatric rhabdoid tumours is reviewed. The aggressive and malignant nature of this disease is confirmed.     

CT and MRI in haemolytic uraemic syndrome with central nervous system involvement: distribution of lesions and prognostic value of imaging findings

Background: Central nervous system (CNS) involvement is a common complication in haemolytic uraemic syndrome (HUS). Various imaging findings have been described, mostly as case reports. Although there are a few retrospective studies on larger patient groups there is no report that focuses on MRI. Objective: To analyse the CT and MRI studies of patients with neurological complications of HUS, to describe the typical imaging findings, and to evaluate their predictive character with regard to follow-up examinations and clinical outcome. Materials and methods: Of 57 patients with clinically proven HUS who were referred to our hospital between 1995 and 2003, 17 had signs of serious CNS involvement and 10 underwent neuroimaging. Nine MRI and seven CT studies were performed in the acute phase and five MRI and two CT studies were done for follow-up. Results: In six patients, pathological imaging findings were seen on CT or MRI performed in the acute phase of the disease whereas CT and MRI scans were completely normal in four patients. All patients with positive imaging findings had pathological changes within the basal ganglia. Additional findings were seen in the thalami (n=2), cerebellum (n=2) and brain stem (n=1). On follow-up imaging performed in five cases, the pathological imaging findings had resolved completely in two and partially in three patients. All patients had a good neurological outcome. Comparing the various MRI findings, a haemorrhagic component within an acute lesion was the most reliable parameter predicting residual pathologic findings on follow-up imaging. Conclusions: Basal ganglia involvement is a typical finding in patients with neurological complications of HUS. Even in patients with severe CNS involvement on acute imaging studies, prognosis was favourable for clinical outcome and resolution of pathological imaging findings.     

Modern imaging of tuberculosis in children: thoracic,central nervous system and abdominal tuberculosis

Tuberculosis (TB) can affect any organ in the body. Children are a high-risk group for contracting the disease and pose a constant challenge to clinicians with regard to making a definitive diagnosis. Radiologists are playing a more active role in diagnosing TB, and armed with more accurate diagnostic investigations such as CT and MRI, they must face the cost implications as well as technical limitations. This review aims to guide the reader through the modern imaging techniques useful for diagnosing TB of the thorax, central nervous system and abdomen in children. The more specific features of each modality in the particular anatomical regions are highlighted.     

Perspectives in the management of central nervous system tumours

A general review and update in the management of CNS tumours using medulloblastoma as the main model is given in this article. Special emphasis has been placed on the benefits of combined modality treatment for brain tumours. The pathogenesis and management of these tumours is discussed and recommendations made for treatment in developing countries.     

Adamantinoma in childhood: report of six cases and review of the literature

Background Adamantinoma is a rare slow-growing malignant bone tumour. Objective To describe the imaging appearances of six childhood cases and review the published literature. Materials and methods The database of the Working Group on Paediatric Oncology, Academic Medical Centre/Emma Children’s Hospital Amsterdam, was searched for cases of adamantinoma. Additionally a literature study was performed to identify cases of adamantinoma in childhood. Results We identified six local cases of adamantinoma of the long bones, two boys (age 3 and 8 years) and four girls (mean age 8.8 years, range 3.0–14.0 years). The location of the tumour was the tibia in five and the tibia and fibula in one patient. In two patients initially a different diagnosis was made, which led to a delay in appropriate treatment. None of the children showed pulmonary metastases and all underwent total gross resection. On follow-up (mean 6.1 years, range 1.6–12.0 years) all children remained disease-free. Besides a discussion of our six patients, imaging features, histopathology, surgical approach and a literature review of childhood adamantinomas is presented. Conclusion Although the incidence of adamantinoma is low, it is important to recognize this rare bone tumour, since in the early stages of the disease adequate treatment will result in an excellent prognosis. Part of this paper was presented at the Annual Meeting of the Radiological Society of North America, 2004, Chicago, USA.     

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.     

2005 PRETEXT: a revised staging system for primary malignant liver tumours of childhood developed by the SIOPEL group

Over the last 15 years, various oncology groups throughout the world have used the PRETEXT system for staging malignant primary liver tumours of childhood. This paper, written by members of the radiology and surgery committees of the International Childhood Liver Tumor Strategy Group (SIOPEL), presents various clarifications and revisions to the original PRETEXT system.     

Germ cell tumours of the central nervous system in children-controversies in radiotherapy

BACKGROUND: Primary germ cell tumours (GCT) of the central nervous system (CNS) are rare tumours of children and adults. As few prospective, randomised trials have been published, management decisions are often based on retrospective and historical studies, histology, age, performance status, and extent of disease at diagnosis. This article reviews the current controversies in the radiotherapeutic management of primary GCT of the CNS. PROCEDURE: A computerised literature search was performed using the Medline database from 1975 to 2000, this being limited to publications written in the English language on CNS GCT in children up to the age of 16 years. RESULTS: Issues in radiation therapy currently undergoing review include the role of cranio-spinal irradiation (CSI), radiation therapy field sizes, the radiation therapy dose, the extent of surgery in combination with radiotherapy, and the role and timing of chemotherapy in combination with radiotherapy. CONCLUSIONS: The excellent outcome in children with pure germinoma of the CNS and the long-term morbidity associated with standard therapy justifies attempts to limit both the total radiation dose and field sizes, with or without the addition of chemotherapy. The poorer outcome associated with non-germinoma GCT justifies a more aggressive approach in children, combining chemotherapy, surgery and virgule, or radiation therapy, based on known prognostic factors.     

Atypical teratoid/rhabdoid tumor of the central nervous system: report on workshop

Childhood atypical teratoid/rhabdoid tumor (AT/RT) of the central nervous system (CNS) is a recently described entity. Diagnosis is based on distinctive light microscopy and immunohistochemical findings, coupled with molecular genetic analysis. Most AT/RTs demonstrate monosomy 22 or deletions of chromosome band 22q11 with alterations of the hSNF5/INI1 gene. The tumor's incidence is still undefined, but it may comprise as high as 1 in 4 primitive CNS tumors in infants. Treatment is far from optimal, but there are occasional long-term survivors, especially among older children. Therapeutic approached have included surgery, chemotherapy, and radiotherapy. Prospective clinical trials are needed for children with AT/RTs.     

Congenital tumours involving the head, neck and central nervous system

Congenital intracranial tumours are uncommon and differ from those occurring in older children in clinical presentation, imaging characteristics and prognosis. These tumours are often detected incidentally on routine prenatal US and/or fetal MRI. Hence, the paediatric radiologist should be familiar with the features of those lesions that should be included in the differential diagnosis. In general, the prognosis of these conditions is poor owing to large tumour size and the limitations of adjuvant therapy at such a young age. Congenital lesions involving the head and neck region require a meticulous imaging approach using both US and MRI techniques to better guide prenatal planning and fetal or neonatal surgical procedures.     

Lower urinary tract dysfunction in children with central nervous system tumours

The findings in 10 children with neuropathic vesicourethral dysfunction after the onset of a central nervous system tumour are presented. Eight had a spinal tumour and two a brainstem tumour. Bladder dysfunction occurred late in most children except in those with neoplastic infiltration of the conus and cauda equina. Moreover, tumour recurrence was often heralded by loss of bladder control before other neurological signs became obvious. Videourodynamics (VUD) showed various combinations of "filling" and "voiding" dysfunction in tumours extending from the pons to the cauda equina, whereas an isolated "filling" dysfunction was evident in the patient with a suprapontine tumour. Urinary incontinence and recurrent urine infection can be immensely distressing to children and their families, particularly when they have had to cope with the stress of diagnosis and treatment of the underlying tumour. Different management strategies, based on VUD findings, are discussed highlighting the impact these have on the children's quality of life.     

儿童狼疮中枢神经系统的急症表现

目的　 探讨儿童系统性红斑狼疮中枢神经系统急症的特征。 方法 　将狼疮脑病患儿与继发中枢神经系统损害狼疮患儿的ANA、dsDNA滴度、Sm阳性率及补体C3下降的阳性率进行比较 ,并对两组患儿的临床特征进行分析。 结果 　ANA、ds DNA滴度及Sm阳性率、补体C3下降阳性率与狼疮脑病并不相关 ,脑电图有助于狼疮脑病的诊断。 结论 　儿童红斑狼疮中枢急症原发及继发性损害的鉴别诊断需结合临床及有关辅助检查综合分析。     

Radiological staging in children with hepatoblastoma

Hepatoblastoma is the most common malignant liver tumour of childhood. Accurate radiological staging is very important, especially in children who are treated according to the protocols of the International Childhood Liver Tumor Strategy Group (SIOPEL). These protocols use risk stratification, based almost entirely on imaging findings, to minimize the treatment for localized tumours and to intensify treatment for extensive tumours and those with extrahepatic spread.     

Atypical teratoid/rhabdoid tumor of the optic nerve

We report a rare case of atypical teratoid/rhabdoid tumor that presented with imaging findings similar to those of optic pathway glioma. The diagnosis of atypical teratoid/rhabdoid tumor was determined following surgical resection of the tumor by collective histologic and immunohistochemical staining, and cytogenetic analysis. We describe the clinical presentation, neuroimaging findings and pathology, and compare them to those of optic gliomas.     

Intracranial pressure in central nervous system infections and cerebral ischaemia of infancy.

Intracranial pressure was continuously monitored in 23 patients aged between 24 hours and 20 months. Fourteen had severe infections of the central nervous system (CNS) and 9 sustained prolonged cerebral ischaemia. The intracranial pressure measured at catheter placement was not a reliable indicator of the intracranial pressure that developed during the course of the disease. The mean maximal intracranial pressure in infants with CNS infection (57.4 +/- 25.8 mmHg) was significantly higher than in infants with cerebral ischaemia (34.6 +/- 17.6 mmHg). Mortality in CNS infections (36%) was closely correlated with the degree of increased intracranial pressure, while mortality in cerebral ischaemia (67%) was not. Continuous monitoring of intracranial pressure enables treatment to be started early so that intracranial pressure can be reduced and adequate cerebral perfusion pressure maintained. This may help to reduce morbidity and mortality.     

儿童中枢神经系统白血病22例临床分析

目的分析22例急性白血病合并中枢神经系统白血病(CNSL)患儿的住院资料,为CNSL诊治提供参考。方法分析22例儿童CNSL的临床特征、实验室检查及预后。结果在303例儿童急性白血病中发生CNSL 22例,发生率7.3%,其中急性淋巴细胞白血病(ALL)18例,急性混合型白血病(MPAL)1例,急性髓细胞白血病(AML)3例;在18例ALL中,B-ALL 11例,T-ALL 7例,T-ALL合并CNSL发生率(22.6%)高于B-ALL(5.6%);CNSL常见临床表现有头痛、呕吐、惊厥及瘫痪等;CNSL预后差,死亡率高。结论 CNSL是急性白血病复发的主要原因之一,根据危险度来预防和治疗CNSL是关键。     

Paediatric thoracic tumours presenting as empyema

Ultrasonography (US) is considered to be adequate for the preoperative evaluation of childhood empyema. This study was aimed to improve awareness that paediatric intra-thoracic tumours can mimic childhood post-pneumonic empyema and highlights the value of computed tomogram (CT) scan with intravenous (IV) contrast in preoperative evaluation of childhood empyema. The data were analysed on eight children (four boys and four girls) presented at the median age of 6.2 years (1.8–15 years) for the management of empyema and later confirmed to have intra-thoracic tumours. Intra-thoracic tumours in 8 (5.3%) children out of 150 cases of post-pneumonic empyema were managed during the study period. All eight had clinical features, increased white cell count, raised inflammatory markers and biochemical parameters suggestive of childhood empyema. Chest X-ray showed localised opacity in 3/8 while in other five suggested significant pleural collection with mediastinal shift. Additional investigations in referring hospital were suggestive of empyema in four children; US in three, CT scan without IV contrast in one. Referring hospital carried out non-diagnostic thoracocentesis in four children with blood stained pleural tap in two. In four children corroborative evidence suggestive of infection within pleural cavity and acute respiratory distress led to an emergency mini-thoracotomy resulting in significant intra-operative bleeding in two children. Histology on biopsy of the infected material showed primitive neuroectodermal tumour (PNET) in one, pleuropulmonary blastoma in one, metastatic malignant melanoma in one and cytology of pleural fluid diagnosed lymphoma in one. Pre-operative CT scan with IV contrast in four children correctly identified underlying intra-thoracic tumour (two benign teratoma, two PNET). In two cases CT with IV contrast was performed because chest X-ray suggested mediastinal loculated empyema while in other two high clinical index of suspicion prompted preoperative evaluation with CT scan with IV contrast. We advocate caution and increased awareness before considering therapeutic options in childhood empyema and recommend preoperative CT scan with IV contrast in some selected and unusual cases.