Phenylketonuria: MR imaging of the brain with clinical correlation.

Pearsen, K D; Gean-Marton, A D; Levy, Harvey L.; Davis, K R

doi:10.1148/radiology.177.2.2217781

Cited by 89 publications

(46 citation statements)

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“…Since the first description in 1989 [8,56], more than 180 patients with similar findings have been reported in the literature [5,9,11,14,34,35,41,42,48,49,[52][53][54]58]. A summary of MR and CT findings in patients with HPA is presented in Table 1.…”

Section: Introductionmentioning

confidence: 84%

White matter abnormalities in patients with treated hyperphenylalaninaemia: Magnetic resonance relaxometry and proton spectroscopy findings

et al. 1993

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In order to further clarify the pathogenesis and clinical significance of MRI white matter abnormalities in treated hyperphenylalaninaemia (HPA), ten patients (seven type I HPA, two type II and one type III) underwent T2 relaxometry (n = 8) and/or 1H spectroscopy (n = 7) in addition to conventional MR spin-echo imaging at 1.5 T. Two patients with severe MRI abnormalities had repeat examinations during and after a 6- to 8-month period of strict diet control. The clinical evaluation included a detailed neurological examination. In nine out of ten patients visual evoked potentials (VEP) were obtained parallel to the MR examination. MR imaging demonstrated typical symmetrical areas of prolonged T2 relaxation time predominantly in the posterior periventricular white matter in all but one of type I and II patients. There was no consistent relationship between MRI findings and time of diagnosis/initiation of therapy, IQ or visual evoked potential changes. MRI abnormalities tended to be more severe in patients with poor dietary control and high current plasma phenylalanine levels, whereas a normal MRI was found only in patients with plasma phenylalanine levels continuously below 0.36 mmol/l. There was marked regression of MRI abnormalities already after 3 months of strict diet control. T2 relaxometry showed a bi-exponential behaviour of T2 in the affected white matter, with a slow component of about 200-450 ms, indicating an increase in free (extracellular) water. 1H spectroscopy revealed no signs of severe neuronal damage. We conclude, that the observed white matter changes in treated HPA probably represent reversible structural myelin changes rather than permanent demyelination.

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Section: Introductionmentioning

confidence: 84%

White matter abnormalities in patients with treated hyperphenylalaninaemia: Magnetic resonance relaxometry and proton spectroscopy findings

et al. 1993

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“…Discontinuation of dietary therapy can result in increased incidence of neuropsychologic problems (9,10). A link between neurologic status and dietary Phe control is now emerging from recent neuroimaging studies demonstrating abnormalities of white matter on MRI (11)(12)(13). However, the pathophysiology and the timing of the development of these white matter changes is unknown.…”

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confidence: 99%

In Vivo Measurement of Phenylalanine in Human Brain by Proton Nuclear Magnetic Resonance Spectroscopy

et al. 1995

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“…En estudios se ha intentado descubrir qué anomalías de la sustancia blanca no se correlacionan significativamente con la inteligencia general (CI) [104,105,107,108,[114][115][116] . No obstante, puede requerirse cierto grado de patología antes de que las anomalías de la sustancia blanca deterioren la función [5,44] .…”

Section: Alteraciones En La Sustancia Blancaunclassified

Función neuropsicológica en la fenilcetonuria tratada precozmente: Una revisión

Crossley¹,

Anderson²

2010

Ann Nestlé [Esp]

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La fenilcetonuria (FCU) es un error metabólico congénito que implica una deficiencia de la enzima fenilalanina hidroxilasa. Este proceso da lugar a niveles elevados de fenilalanina y niveles bajos de tirosina. Si no se administra tratamiento aparecen graves secuelas neuropatológicas y neuroconductuales. La puesta en práctica de la detección sistemática de recién nacidos y el tratamiento dietético precoz ha reducido significativamente esta morbilidad. A pesar de una función intelectual general relativamente conservada, en los pacientes con FCU tratados precozmente se detectan todavía sutiles deficiencias cognitivas y conductuales. Este trabajo aporta una revisión de los datos del deterioro de la elaboración de información, la función ejecutiva, la memoria, el aprendizaje, el aprovechamiento escolar y la conducta. En este trabajo también revisamos las dos teorías principales propuestas hasta la fecha en relación con los mecanismos subyacentes de las deficiencias cognitivas y conductuales halladas en pacientes con FCU tratados, concretamente la disfunción prefrontal y las anomalías de la sustancia blanca. Aunque es necesario ampliar la investigación, la literatura disponible hasta la fecha da a entender que los pacientes afectados de FCU tratados precozmente presentan un riesgo de deficiencias neuroconductuales insidiosas en toda una gama de dominios neuropsicológicos. Por lo tanto, los pacientes con FCU tienen que ser monitorizados minuciosamente para detectar precozmente estos problemas y aplicar intervenciones apropiadas capaces de asegurar que estos pacientes alcancen su pleno potencial.

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Phenylketonuria: MR imaging of the brain with clinical correlation.

Cited by 89 publications

References 0 publications

White matter abnormalities in patients with treated hyperphenylalaninaemia: Magnetic resonance relaxometry and proton spectroscopy findings

White matter abnormalities in patients with treated hyperphenylalaninaemia: Magnetic resonance relaxometry and proton spectroscopy findings

In Vivo Measurement of Phenylalanine in Human Brain by Proton Nuclear Magnetic Resonance Spectroscopy

Función neuropsicológica en la fenilcetonuria tratada precozmente: Una revisión

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