[Perinatal encephalopathy sequelae identified by a neurobehavioral scale in one year old infants]. / Secuelas de encefalopatía perinatal identificadas con una escala de desarrollo neuroconductual.

OBJECTIVE: to identify neurodevelopmental sequelae in one year old infants with perinatal encephalopathy utilizing the neurobehavioral scale named Vanedela. METHODS: a cohort of 75 newborns with perinatal encephalopathy was assessed with a neurobehavioral follow-up scale at age of 1, 4, 8 and 12 months. A distinction was made between functional, structural and combined encephalopathy. Two groups of neurodevelopmental outcome at one year were identified: with or without sequelae. Nonparametric statistics was used. RESULTS: infants with functional encephalopathy had the best scores, followed by those with structural encephalopathy, while infants with a combined encephalopathy had the lowest scores. At one year of age, the group with neurobehavioral sequelae exhibited the lowest scores and retarded growth. At the same age, the group with functional encephalopathy exhibited no neurobehavioral sequelae, and reached better scores and growth. CONCLUSIONS: the neurobehavioral follow-up scale is able to identify the neurodevelopmental sequelae at the age of one year in infants with perinatal encephalopathy. The application of Vanedela in the clinical field requires of little time, its results are trustworthy and very useful for the neurobehavioral follow-up assessment.

[Peroxisomal D-bifunctional enzyme deficiency. A case report]. / Deficencia enzimática D-bifuncional peroxlsomal. Caso clínico.

Newborn was referred with diagnosis of neonatal epilepsy. Medical team could suspect and confirm D-bifunctional peroxisomal enzymatic deficiency diagnosis. It was made by family antecedents, severe neonatal hypotonia, uncontrolled neonatal seizures, craniofacial dysmorphic features, psychomotor retardation, neuronal migration defect and a positive peroxisomal panel. The full study in skin fibroblasts involved enzyme analysis, complementation studies and DNA analysis. The accumulation of very long chain fatty acids, partial deficiency in phytanic acid oxidation, and abnormal morphology of peroxisomes was consistent with a defect in peroxisomal fatty acid oxidation, involving D-bifunctional protein. It is very important to make a diagnosis of this innate error of metabolism in order to give preconceptional genetic counseling, to identify recurrence risk and to perform mutation analysis for the D-bifunctional protein gene, and to offer the prenatal diagnosis.