Early Infantil Krabbe Disease with Unusual Survival

Introduction: Globoid cell leukodystrophy (Krabbe disease) is caused by a deficiency of the lysosomal galactocerebrosidase that results in progressive demyelination. The sole treatment is hematopoietic cell transplantation, which is only effective if performed before the onset of signs. In the absence of treatment, most children with early infantile Krabbe disease die within 2 years. Case Report: Female patient, first child of non-consanguineous parents, apparently normal till the fifth month of age when she presented with irritability, stiffness with clenched fists, developmental delay and feeding difficulties that progressed rapidly to failure to thrive, apathy, psychomotor regression, few spontaneous movements and spastic tetraparesis. Cerebral MRI showed extensive cerebral white matter abnormalities, relatively sparing the U-fibers, with a pattern of radiating stripes. Galactocerebrosidase activity in leukocytes and fibroblasts and molecular studies confirmed the diagnosis of Krabbe disease. After the rapid and regressive initial phase, she showed no further clinical progression of the disorder and although she did not grow she even showed regression of irritability and had a stable evolution and good visual contact until death over the age of 5 years. Comments: Our case shows that patients may have a stabilized form of disease and that a longer survival than described in the literature without transplant is possible in some patients.

Non-Progressive Leukoencephalopathy with Bilateral Temporal Cysts

We report two cases of a peculiar leukoencephalopathy with temporal cysts. Both patients have a non-progressive neurological disorder with mental retardation, microcephaly and sensorineural deafness although clinical differences between them may reflect a different aetiology. The metabolic disorders with white matter involvement and the recently described leukoencephalopathies (Van Der Knaap disease, 'vanishing white matter disease') were excluded based on clinical, biologic and imaging findings. Cytomegalovirus infection is a likely possibility in the first case although the magnetic resonance imaging picture is only partially similar to previously reported cases. Our patients are strikingly similar to the patients reported by Deonna et al. and Olivier et al. We discuss the clinical and imaging findings in our patients and the differential diagnosis considering the known disorders of the white matter in childhood.

Compliance with ESPGHAN Position on Complementary Feeding in a Multicultural European Community. Does Ethnicity Matter?

Introduction: In 2008, ESPGHAN published a position paper on complementary feeding providing recommendations to health care professionals. Cultural and socio-economic factors might affect the compliance to these orientations. Aim: To estimate the prevalence of inadequacies during complementary feeding (ESPGHAN, 2008) and its association with different ethnic backgrounds. Methods: Cross-sectional survey of a convenience sample of caretakers of children up to 24 months of age in a single community health centre in Greater Lisbon, through a volunteer, self-applied questionnaire. Results: From a sample of children with wide cultural diversity, 161 valid questionnaires were obtained (median child’s age 9 months, median mother’s age 32 years). The prevalence rate of at least one complementary feeding inadequacy was 46% (95%CI: 38.45-53.66). The commonest inadequacies were: avoiding lumpy solid foods after 10 months of age (66.7%), avoidance or delayed introduction of foods beyond 12 months (35.4%), introduction of gluten beyond 7 months (15.9%) or salt before 12 months (6.7%). For each increase of 1 month in the age of the child, the odds of inadequacies raised 36.7% (OR = 1.37; 95%CI: 1.20-1.56; p < 0.001). The odds for inadequacies in children of African or Brazilian offspring was three times higher that of Portuguese ancestry (OR = 3.31; 95%CI: 0.87-12.61; p = 0.079). The influence of grandparents was related to an increase in the odds of inadequacies (OR = 3.69; 95%CI: 0.96-14.18; p = 0.058).Conclusion: Inadequacies during complementary feeding are frequent and may be influenced by the cultural background.

A Pilot Cost-Effectiveness Analysis of Treatments in Newly Diagnosed High-Grade Gliomas: The Example of 5-Aminolevulinic Acid Compared With White-Light Surgery

BACKGROUND: High-grade gliomas are aggressive, incurable tumors characterized by extensive diffuse invasion of the normal brain parenchyma. Novel therapies at best prolong survival; their costs are formidable and benefit is marginal. Economic restrictions thus require knowledge of the cost-effectiveness of treatments. Here, we show the cost-effectiveness of enhanced resections in malignant glioma surgery using a well-characterized tool for intraoperative tumor visualization, 5-aminolevulinic acid (5-ALA). OBJECTIVE: To evaluate the cost-effectiveness of 5-ALA fluorescence-guided neurosurgery compared with white-light surgery in adult patients with newly diagnosed high-grade glioma, adopting the perspective of the Portuguese National Health Service. METHODS: We used a Markov model (cohort simulation). Transition probabilities were estimated with the use of data from 1 randomized clinical trial and 1 noninterventional prospective study. Utility values and resource use were obtained from published literature and expert opinion. Unit costs were taken from official Portuguese reimbursement lists (2012 values). The health outcomes considered were quality-adjusted life-years, lifeyears, and progression-free life-years. Extensive 1-way and probabilistic sensitivity analyses were performed. RESULTS: The incremental cost-effectiveness ratios are below €10 000 in all evaluated outcomes, being around €9100 per quality-adjusted life-year gained, €6700 per life-year gained, and €8800 per progression-free life-year gained. The probability of 5-ALA fluorescence-guided surgery cost-effectiveness at a threshold of €20000 is 96.0% for quality-adjusted life-year, 99.6% for life-year, and 98.8% for progression-free life-year. CONCLUSION: 5-ALA fluorescence-guided surgery appears to be cost-effective in newly diagnosed high-grade gliomas compared with white-light surgery. This example demonstrates cost-effectiveness analyses for malignant glioma surgery to be feasible on the basis of existing data.