Resumen

JIMENEZ-PEREZ, Mario O. et al. Brain nuclear magnetic resonance in patients with late diagnosis of phenylketonuria. Acta pediatr. Méx [online]. 2015, vol.36, n.1, pp.09-17. ISSN 2395-8235.

Introduction: Classic phenylketonuria (PKU) is a genetic encephalopathy characterized by impairment of phenylalanine (Phe) metabolism, leading to elevation of blood Phe to toxic levels. Clinical manifestations include irritability, sleep disorders, apathy, seizures, developmental delay, autistic behavior, aggressiveness; mental retardation is the most severe manifestation of the disease. Objective: To describe the findings of brain nuclear magnetic resonance (NMR) and to measure the apparent diffusion coefficient (ADC) of Mexican PKU patients diagnosed by their clinical manifestations in the National Institute of Pediatrics (INP). Material and methods: Retrospective analysis of brain images obtained by NMR from PKU patients. A Signa Excite magnet of 1.5 Tesla with an 8-channel phased array cerebral antenna was used. ADC was measured on the Advantage Workstation 4.2p. Results: Abnormalities in the white and gray matter were observed in all patients; bilateral changes were present in the frontal, temporal, occipital, subcortical and periventricular white matter. ADC was diminished in the peritrigonal and occipital white matter; as well as in the corpus callosum, basal ganglia and cerebellum. One patient had two arachnoid cysts. Conclusion: All PKU patients exhibited the characteristic NMR abnormalities. The mechanisms responsible for brain damage that occur in PKU patients are poorly understood and require further research.

Palabras llave : Classic phenylketonuria; PKU; phenylalanine hydroxylase deficiency; inborn errors of metabolism; magnetic nuclear resonance; apparent diffusion coefficient; ADC; mental retardation.

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