No abstract

Childhood spinal cord astrocytomas are rare diseases, and their management is controversial. We report here our successful experience using irinotecan and cisplatin in three consecutive infants with progressing intramedullary astrocytomas. The first patient was a 16-month-old girl who presented with a grade III intramedullary astrocytoma that rapidly progressed after surgery and adjuvant chemotherapy. Weekly irinotecan (50 mg/m(2)) and cisplatin (30 mg/m(2)) for four consecutive weeks (one cycle) for a total of four cycles (I/C regimen) was used in order to avoid or delay radiotherapy. Radiological complete remission was achieved 10 months after completion of therapy, and 3.5 years after diagnosis the patient remains disease free. The second patient was a 19-month-old boy with a C3-T4 grade II intramedullary astrocytoma who received up-front vincristine and carboplatin for two months but remained clinically symptomatic. A followup MRI showed a larger tumor, and the patient was switched to the I/C regimen. A marked clinical improvement occurred after the first cycle, and MRI showed a very good partial remission at the end of therapy. At 16 months after diagnosis, the patient remains disease free. The third patient was a 10-month-old girl with a C2-T3 grade II intramedullary astrocytoma. She presented with severe pain that became steroid dependent during the month she was treated with the vincristine-carboplatin regimen. When she was switched to the I/C regimen, the clinical symptoms responded within days. MRI at the end of therapy showed a significant reduction in tumor size, and one year after diagnosis the patient remains symptom free. Using this I/C regimen for childhood intramedullary astrocytoma, we obtained remarkable clinicoradiological responses while avoiding the use of radiotherapy.

Congenital disorders of glycosylation (CDG) are a group of inherited defects in the synthesis and processing of the linked glycans of glycoproteins and other glycoconjugates. The phenotypic spectrum presents wide variability, and clinical diagnosis is not reliable in most cases. Isoelectric focusing (IEF) of serum transferrin is widely used as a tool to detect CDG. We describe a paediatric patient presenting an altered serum transferrin pattern due to a secondary disorder of glycosylation caused by pneumococcal meningitis (Streptococcus pneumoniae, serotype 19A). During admission, brain CT scan and MRI showed acute ischaemic lesions in brain frontotemporal parenchyma, and enlarged subarachnoidal spaces in the frontal area resembling a chronic injury. This led us to screen for inborn errors of metabolism potentially associated with these findings (homocystinuria, glutaric aciduria, CDG syndromes). Biochemical studies for the screening of these inborn errors of metabolism were normal except for sialotransferrin isoelectric focusing, which showed a type 2 pattern. However, 16 days later, together with the remission of the meningitis process, the sialotransferrin pattern had normalized. The apolipoprotein C-III (an O-glycoprotein) profile was normal in all samples analysed. In conclusion, infectious events should be ruled out in the differential diagnosis of CDG syndromes. Furthermore, our findings highlight the possibility that the type 2 IEF pattern of serum sialotransferrin detected in some patients with neonatal death due to organ failure and septic events might be secondary to the infectious process.