Detection of ß-D-glucan for the diagnosis of invasive fungal infection in children with hematological malignancy.

OBJECTIVES: The ß-D-glucan assay (BDG) has been added to the EORTC/MSG criteria for the diagnosis of invasive fungal infections (IFI), but data from pediatric populations is scarce. The aim of this study was to evaluate performance of BDG in a cohort of hemato-oncological children with hematological malignancy at risk for IFI. METHODS: 113 patients were included through an 18-month period. In addition to routine IFI screening, BDG was assayed once a week. IFIs were classified using EORTC/MSG criteria without including the BDG results. Performances were assessed after a ROC analysis for optimization and multivariate analysis to detect the causes of false positivity. RESULTS: 8 proven and 4 probable IFIs, and 7 possible IFIs were diagnosed in 9 and 7 patients, respectively. Sensitivity and specificity increased from 75% and 56% to 100% and 91.1%, respectively when considering the whole population and patients not having received any antifungals prior to the test. Multivariate analysis revealed that being younger than 7, severe colitis/mucositis, recent administration of polyvalent immunoglobulins and digestive colonization with Enterococcus sp were independent risk factors for false positivity. CONCLUSIONS: BDG is a valuable test to detect IFI in pediatric patients not previously treated with antifungals and to detect the occurrence of chronic infection.

Excellent response to a ketogenic diet in a patient with alternating hemiplegia of childhood.

UNLABELLED: Alternating hemiplegia of childhood (AHC) is a rare disorder caused by heterozygous mutations in ATP1A3. AHC is associated with early-onset plegic and tonic/dystonic attacks and permanent neurologic deficits. Attacks tend to persist through life. Flunarizine therapy occasionally reduces the severity, duration and frequency of attacks. A ketogenic diet/modified Atkins diet (KD/MAD) can attenuate paroxysmal movement disorders associated with GLUT1 deficiency syndrome (GLUT1DS), but there are no reports on the effect of KD/MAD in AHC. We describe the case of a young girl with AHC who had tonic/dystonic and plegic attacks, mostly triggered by exercise, together with mild permanent dystonia and mental retardation. Her family had a history of dominant (three affected generations) paroxysmal exercise-induced dystonia. A history of plegic attacks that ceased after childhood was retraced from the medical records of the three affected adults, leading to the diagnosis of familial AHC due to ATP1A3 p.Asp923Asn mutation (Roubergue et al 2013). KD/MAD was considered for the proband when she was 3½ years old, following initial misdiagnosis of GLUT1DS. MAD, a KD variant, was chosen because it is easier to manage than KD and is similarly effective to KD in most GLUT1DS patients. MAD resulted in complete disappearance of the attacks during 15 months of follow-up. CONCLUSIONS: A modified Atkins diet had a sustained beneficial effect on attacks associated with AHC. Although preliminary, this observation suggests that a ketogenic diet might be a therapeutic option for paroxysmal disorders in some patients with alternating hemiplegia of childhood.