[Neurological, neuropsychological, and ophthalmological evolution after one year of docosahexaenoic acid supplementation in phenylketonuric patients]. / Evolucion neurologica, neuropsicologica y oftalmologica tras un ano de suplementacion con acido docosahexaenoico en pacientes fenilcetonuricos.

INTRODUCTION. Phenylketonuria (PKU) is an autosomal recessive metabolic disease caused by a deficiency of phenylalanine hydroxylase. The dietary therapy for the effective management of PKU, in particular the restriction of high-protein foods of animal-origin, compromises patients' intake of fat and distorts the n-3:n-6 ratio of essential fatty acids in the diet. This deficiency can contribute to neurological and visual impairment. AIM. To evaluate changes in white matter alterations, visual evoked potential (VEP) latencies and performance in executive and motor functions in a group of early and continuously treated PKU patients after supplementation with docosahexaneoic acid (DHA). PATIENTS AND METHODS. We selected 21 PKU patients with early diagnosis (age range: 9-25 years), on a Phe-restricted diet and supplemented with PKU formula. Inclusion criteria were: low erythrocyte DHA values, prolonged P100 wave latencies in VEP and/or presence of white matter hyperintensities on brain magnetic resonance imaging (MRI), and intellectual quotient > 80. All patients were treated with DHA (10 mg/kg/day) for 12 months. Assessment was conducted at baseline and after 12 months of treatment, and included biochemical parameters, brain MRI, VEP, ophthalmologic evaluation and neuropsychological tests. RESULTS AND CONCLUSION. All the patients normalized the DHA levels after supplementation. Improvement in the P100 wave latencies, and fine motor skills was significant. No significant improvement in the other explorations was evident after supplementation. Further investigations seem advisable to establish a cause-effect relationship between DHA treatment and the slight improvement observed in some neurological functions.

[Diffusion-weighted imaging in pediatric central nervous system infections]. / Secuencias de resonancia magnética por difusión en infecciones pediátricas del sistema nervioso central.

INTRODUCTION: Central nervous system (CNS) infections are associated with high morbidity and mortality. Neuroimaging plays an important role in the early diagnosis and characterisation of neurological complications. AIM: To report the findings in diffusion-weighted images (DWI) and its potential contribution to the early diagnosis and prognosis of neurological sequelae. PATIENTS AND METHODS: Descriptive study of a series of 23 patients, between the ages of 1 month and 16 years, who presented with CNS infection. MRI, with DWI, was performed in all of them. RESULTS: We found 13 viral meningoencephalitis and 10 bacterial meningitis. MRI was performed from day one to seventh after hospitalization. We found CNS affection in conventional MRI and/or DWI in 14 of 23 cases (60%). In three patients the neurological injury was only evident in DWI. We found any type of neurological sequelae in 17 of 21 evaluable patients. The most common neurological sequelae we found was epilepsy (9 of 21). When we related sequelae with conventional MRI and DWI we found a trend in associated more severe sequelae when there are pathological findings in neuroimaging, not statistically significant. CONCLUSIONS: DWI sequence can be useful in the early diagnosis of neurological complications in CNS infections.