Cervical spinal osteosarcoma in an adolescent.

Primary cervical spine osteosarcoma is rare and is considered to have a poor prognosis. We describe an adolescent patient suffering from primary cervical spine osteosarcoma with delayed diagnosis. Nineteen months deficit and symptom-free survival was achieved after an aggressive multi-modality treatment comprising surgery and adjuvant chemoradiotherapy.

A pale Chinese boy with recurrent painful digital swelling.

Thalassaemia is the most common haemoglobinopathy in the Chinese population. However, recurrent painful digital swelling is not a typical manifestation of this well-known hereditary condition. We describe a case of co-inheritance of beta-thalassaemia and sickle cell trait in a Chinese family and a child who suffered from sickle cell/beta-thalassaemia with recurrent dactylitis. This report highlights awareness of this rare condition in the Chinese population, since acute manifestations can be life-threatening and mimic other emergency conditions. Prompt management can prevent further complications and avoid unnecessary interventions due to delay in diagnosis. A detailed family history and examination of the patient's peripheral blood smear is crucial to reach a correct diagnosis.

Atypical location of germinoma in basal ganglia in adolescents: radiological features and treatment outcomes.

The objective of this work is to describe the imaging findings, clinical profile and treatment response in four Chinese adolescent patients presenting with ectopic germinoma arising from basal ganglia. The clinical presentation, treatment regimens and the imaging findings at presentation and after treatment were described upon retrospective review of four Chinese adolescent patients. CT of the brain showed mixed solid cystic mass lesions in three patients. In one patient, only ill-defined hyperdensity was noted in the affected basal ganglia. Correlative MRI brain studies showed similar findings of large solid cystic masses in three patients, whereas the fourth patient showed small hyperintensities on T2 weighted and fluid-attenuated inversion-recovery sequences. All lesions were confirmed to be germinomas on biopsy. Chemotherapy followed by radiotherapy was given to three patients. There was a dramatic response, with complete resolution of tumour bulk in two patients and >80% reduction in tumour bulk in one patient. Debulking surgery was performed in one subject who had received cranial radiotherapy; the last follow-up MRI showed no evidence of residual disease.

Role of imaging in management of hemophilic patients.

OBJECTIVE: The purpose of this study was to evaluate the role of symptomatology and conventional radiographic scoring in predicting synovial hypertrophy, which could affect the clinical management of hemophilic patients. MATERIALS AND METHODS: Twenty males (mean age, 14.3 years old) with hemophilic arthropathy, including 34 symptomatic joints and 26 asymptomatic joints (16 knees, 20 ankles, and 24 elbows) had conventional radiographs of individual joints obtained that were rated according to the Arnold-Hilgartner stage and the Pettersson score. The patients also underwent MRI for the detection of synovial hypertrophy. The association of synovial hypertrophy and symptomatology was evaluated using the chi-square or Fisher's exact test. The best sensitivity, specificity, and positive and negative predictive values in detection of synovial hypertrophy using symptomatology and radiographic scoring were calculated. RESULTS: A significant association was seen between symptomatology and synovial hypertrophy of the knee and ankle joints (p < 0.05). The sensitivity, specificity, and positive and negative predictive values of symptomatology in detection of synovial hypertrophy of the knee were 100%, 78%, 78%, and 100%, respectively, and for the ankle were 83%, 75%, 83%, and 75%, respectively. The Arnold-Hilgartner stage and Pettersson score of the radiograph had a significant association with synovial hypertrophy of the knee and ankle joints (p < 0.05). Arnold-Hilgartner staging provided a better prediction of synovial hypertrophy, with sensitivity, specificity, positive predictive value, and negative predictive value of 100%, 100%, 100%, and 100% for knees and 82%, 100%, 100%, and 82% for ankles. CONCLUSION: In hemophilic patients, the presence of symptomatology in the knee and ankle joints is associated with synovial hypertrophy, and scoring of the conventional radiographs using Arnold-Hilgartner staging is useful for the prediction of synovial hypertrophy.

Imaging features of pancreatoblastoma.

BACKGROUND: Pancreatoblastoma is a rare tumour of childhood. Reports of the imaging appearances are limited. OBJECTIVE: To define the imaging features of pancreatoblastoma by analysis of four previously unreported cases and review of the literature. MATERIALS AND METHODS: Findings at CT (n = 4), US (n = 3) and MRI (n = 2) were retrospectively reviewed in four patients with pancreatoblastoma. A Medline search was performed to identify relevant literature. RESULTS: Pancreatoblastoma arises most frequently in the body and/or tail, or involves the entire pancreas. Ultrasonography, CT and MRI show variable imaging features, but should in most cases permit preoperative distinction of pancreatoblastoma from other tumours that occur in this region in infancy and childhood. Detection of metastases in the liver, lymph nodes and peritoneal cavity is not significantly better with any one of these three modalities. CONCLUSION: Preoperative imaging with US, CT and/or MRI will usually suggest a correct diagnosis of pancreatoblastoma. Contrary to previous reports, the tumour arises in the pancreatic head in a minority of cases.

Deferoxamine-induced dysplasia of the knee: sonographic features and diagnostic performance compared with magnetic resonance imaging.

OBJECTIVE: To evaluate the features and diagnostic performance of sonography in the assessment of deferoxamine-induced dysplasia of the knee. METHODS: The left knees of 32 patients with thalassemia who were receiving regular blood transfusions and chelation therapy were studied with sonography for signs of deferoxamine-induced bone dysplasia. Abnormal physeal and metaphyseal changes detected on sonography included notching at the metaphyseal corner, a blurred or irregular peripheral juxtaphyseal metaphyseal contour, and widening of the peripheral juxtaphyseal metaphyseal echogenic interface. The accuracy of sonography in diagnosing dysplasia was evaluated by using magnetic resonance imaging as the standard of reference. RESULTS: There were 14 true-positive findings, 10 true-negative findings, 7 false-negative findings, and 1 false-positive sonographic diagnosis of dysplasia, giving 67% sensitivity, 91% specificity, a 93% positive predictive value, and a 59% negative predictive value. CONCLUSION: Sonography was specific but only moderately sensitive in the diagnosis of deferoxamine-induced dysplasia at the knee when compared with magnetic resonance imaging.

A fludarabine-based conditioning regimen for severe aplastic anemia.

Graft rejection is a common problem after alternative donor transplantation for patients with refractory severe aplastic anemia (SAA). Intensification of the conditioning regimen, with the inclusion of irradiation, has often been advocated to combat this problem. With this approach engraftment rate improved, but the incidence of transplant-related complications is also increased, resulting in little change in the overall outcome. We investigated the use of the combination of fludarabine, cyclophosphamide and anti-thymocyte globulin as the conditioning regimen in five multiply-transfused SAA patients. Three patients received an HLA one-antigen disparate related donor transplant, while two patients were given marrow from matched, unrelated donors. The regimen was well tolerated, with only grade I toxicity encountered. With a median follow-up of 9 months, all patients are alive with complete donor chimerism. We conclude that fludarabine may be used in place of irradiation to augment the conditioning regimen of cyclophosphamide and anti-thymocyte globulin for alternative donor transplantation in children with SAA.

Single nucleotide polymorphisms of the factor IX gene for linkage analysis in the southern Chinese population.

Carrier detection and prenatal testing for haemophilia B in Oriental populations have been hampered by the lack of informative markers within the factor IX (FIX) gene. We detected a T/C nucleotide variation at nucleotide 32770 in the poly-A region of the FIX gene in the mother of a haemophilia B child. Analysis of 139 unrelated alleles revealed a heterozygosity rate of 0.193, thus offering an additional marker for linkage analysis. Together with two other polymorphic sites (5' MseI and 3' HhaI) found in Chinese and Thai populations, these polymorphisms were useful in 66% of the families studied.

Echocardiographic evaluation of cardiac function in paediatric oncology patients treated with or without anthracycline.

Using Doppler echocardiography, we studied the left ventricular systolic and diastolic function in 124 healthy control children (group C), 110 oncology patients who had received anthracycline (group A), and 76 oncology patients who had received chemotherapy not including anthracycline (group N), at rest and after supine bicycle exercise. The mean dosage of anthracycline that group A patients received was 219 +/- 95 mg/m2. Impaired systolic function was detected in 29% of the patients in group A and 4% in group N. Figures for impaired diastolic function for group A and N were 27% and 28% respectively. Abnormal diastolic function was detected more frequently in the first two years after chemotherapy in both groups. Four parameters measured at rest appeared to be specifically abnormal in group A but not in group N. These were ejection fraction, fractional shortening, rate-corrected velocity of circumferential fiber shortening (VCFC) and left ventricle peak systolic wall stress (LVWS). After exercise more parameters were abnormal in group N patients when compared to normal children, but abnormalities of VCFC and LVWS remained specific for group A. In conclusion, abnormalities of diastolic function were common among paediatric oncology patients no matter whether they had received anthracycline treatment or not. Abnormalities of systolic function were more specific to anthracycline toxicity. VCFC and LVWS were the most sensitive measurements for differentiating group N patients from group A patients.

Breast metastasis in adolescents with alveolar rhabdomyosarcoma of the extremities: report of two cases.

We describe two adolescent girls with alveolar rhabdomyosarcoma arising from extremities who developed bilateral breast metastasis in their clinical course. In both cases, there was widespread systemic disease at initial presentation. Although complete remission was achieved on the 25th week post-chemotherapy initiation, the first patient developed breast metastasis in addition to systemic recurrence on the 44th week and expired. For the second patient, breast metastasis was noted in addition to systemic disease at initial presentation. Aggressive chemotherapy with autologous transplant and radiotherapy were given in addition to bilateral subcutaneous total mastectomy. The patient remained in complete remission 3 months post-therapy. We postulate that adolescent females with alveolar rhabdomyosarcoma of the extremities have a high risk of developing breast metastasis in the pubertal period, and aggressive multidisciplinary treatment is indicated.

Inversion (14)(q11q32) in childhood T-cell acute lymphoblastic leukemia.

Inversion (14)(q11q32) is a common cytogenetic aberration in T-cell chronic lymphoid malignancies but is rare in T-cell acute lymphoblastic leukemia (T-ALL). We describe two cases of childhood T-ALL in which inv(14)(q11q32) was present concomitantly with other karyotypic aberrations typical of T-ALL. The possible significance of inv(14) in these cases is also discussed.

Association between t(2;9)(p12;p23) and early B-precursor acute lymphoblastic leukemia.

We report the occurrence of t(2;9)(p12;p23) in a 20-month-old girl with early B-precursor acute lymphoblastic leukemia (ALL). This translocation has only been reported once before in an adult case of early B-precursor ALL with t(4;11)(q21;q23). We suggest that t(2;9)(p12;p23) may be associated with this particular phenotype of ALL.