ABSTRACT
Introducción. La fenilcetonuria (PKU) es una enfermedad metabólica autosómica recesiva causada por la deficiencia defenilalanina hidroxilasa. El tratamiento dietético de la PKU consiste en la restricción de alimentos ricos en proteínas, loque afecta la ingestión de lípidos de los pacientes y distorsiona la relación n-3:n-6 de ácidos grasos esenciales en la dieta. Esta deficiencia puede contribuir al deterioro neurológico y visual de los pacientes. Objetivo. Evaluar los cambios en las alteraciones de la sustancia blanca, potenciales evocados visuales (PEV) y rendimiento en funciones ejecutivas y motrices en pacientes con PKU tratados precozmente tras la suplementación con ácidodocosahexaenoico (DHA).Pacientes y métodos. Se seleccionaron 21 pacientes con PKU (edad: 9-25 años), con dieta restringida en fenilalanina. Loscriterios de inclusión fueron: valores bajos de DHA eritrocitaria, retraso de latencias de la onda P100 en PEV o presencia dehiperintensidad de sustancia blanca en la resonancia magnética (RM) cerebral, y cociente intelectual > 80. Los pacientes se suplementaron con DHA (10 mg/kg/día) durante 12 meses. La evaluación se realizó al inicio del estudio y a los 12 mesesde tratamiento, e incluyó parámetros bioquímicos, RM, PEV, evaluación oftalmológica y pruebas neuropsicológicas. Resultados y conclusión. Los pacientes normalizaron los niveles de DHA tras la suplementación. La mejora en las latencias de la onda P100 y la motricidad fina fue significativa. No se evidenciaron cambios en las otras exploraciones tras el tratamiento. Es necesario proseguir la investigación para establecer una relación causa-efecto entre el tratamiento con DHA y la mejoría observada en algunas funciones neurológicas (AU)
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 foodsof 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) latences 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 andneuropsychological tests.Results and conclusion. All the patients normalized the DHA levels after supplementation. Improvement in the P100 wavelatencies, and fine motor skills was significant. No significant improvement in the other explorations was evident aftersupplementation. Further investigations seem advisable to establish a cause-effect relationship between DHA treatmentand the slight improvement observed in some neurological functions (AU)
Subject(s)
Humans , Phenylketonurias/diet therapy , Docosahexaenoic Acids/pharmacokinetics , Evoked Potentials, Visual , Magnetic Resonance Spectroscopy , Dietary ProteinsABSTRACT
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.
Subject(s)
Brain/pathology , Dietary Supplements , Docosahexaenoic Acids/therapeutic use , Phenylketonurias/diet therapy , Adolescent , Arachidonic Acid/blood , Child , Docosahexaenoic Acids/administration & dosage , Docosahexaenoic Acids/blood , Docosahexaenoic Acids/deficiency , Erythrocytes/chemistry , Evoked Potentials, Visual , Executive Function/physiology , Fatty Acids, Unsaturated/deficiency , Female , Follow-Up Studies , Humans , Magnetic Resonance Imaging , Male , Membrane Lipids/analysis , Neuropsychological Tests , Psychomotor Performance , Reaction Time , Treatment Outcome , Vision Tests , Young AdultABSTRACT
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.
Subject(s)
Central Nervous System Infections/diagnosis , Diffusion Magnetic Resonance Imaging/methods , Adolescent , Central Nervous System Infections/microbiology , Central Nervous System Infections/virology , Child , Child, Preschool , Encephalitis/diagnosis , Encephalitis/pathology , Female , Humans , Infant , Infant, Newborn , Male , Meningitis, Bacterial/diagnosis , Meningitis, Bacterial/pathology , Meningoencephalitis/diagnosis , Meningoencephalitis/pathology , PrognosisABSTRACT
Introducción. Las infecciones del sistema nervioso central (SNC) en pediatría se asocian a una gran morbimortalidad. La neuroimagen desempeña un papel cada vez más importante en la detección precoz de complicaciones neurológicas. Objetivo. Describir los hallazgos encontrados en las secuencias de difusión (DWI) y su posible utilidad en el diagnóstico precoz y el pronóstico de las secuelas neurológicas. Pacientes y métodos. Es un estudio descriptivo retrospectivo de una serie de 23 pacientes, con edades comprendidas entre 1 mes y 16 años, afectos de infección del SNC, a los que se realizó resonancia magnética (RM). Resultados. La clasificación etiológica fue la siguiente: 13 casos de meningoencefalitis vírica y 10 casos de meningitis bacteriana. La RM se realizó entre el primer y séptimo día de ingreso. Encontramos lesión del SNC en RM convencional o DWI en 14 de 23 casos (60%). En tres pacientes, la lesión neurológica (infarto cortical aislado) sólo fue evidente en la DWI. Encontramos algún tipo de secuela neurológica en 17 de 21 casos. La secuela neurológica identificada con mayor frecuencia fue la epilepsia (9 de 21). Al relacionar las secuelas con los hallazgos en RM y con la DWI, vimos una mayor tendencia a encontrar secuelas más graves cuando existen hallazgos patológicos en la neuroimagen, con una relación que no es estadísticamente significativa. Conclusiones. Las DWI pueden ser útiles en el diagnóstico precoz de complicaciones neurológicas en las infecciones del SNC (AU)
Introduction. Central nervous system (CNS) infections are associated with high morbility 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 (AU)
