PMID: 8598645Jan 1, 1995Paper

Biochemical, clinical and neuroradiological (MRI) correlations in late-detected PKU patients

Journal of Inherited Metabolic Disease
V LeuzziI Antonozzi

Abstract

Brain magnetic resonance imaging (MRI) was performed in 17 late-detected PKU patients (aged 2.8-25 years). Twelve subjects had been treated late (0.7-4.5 years), and 5 not at all. Four were still on diet when the study was performed. Mental development was normal in 4 subjects, mildly retarded in 6, and moderately or severely retarded in 7. None had exhibited mental or neurological deterioration. On MRI examination a symmetrical increase of T2-weighted signal in the periventricular white matter was found in all patients, although to different degrees. Concomitant signal decrease on the T1-weighted sequences was detected in 9 patients. Ten subjects showed focal white-matter abnormalities. A variable degree of cortical and subcortical atrophy was found in 12 subjects, and asymmetry of lateral ventricles in 4. White-matter involvement correlated with phenylalanine concentrations during the year preceding (rs = 0.5706; p < 0.02) and at the time of (rs = 0.6182, p < 0.01) the investigation. Cortical and subcortical atrophy correlated with the patient's age (rs = 0.5889, p < 0.02, and rs = 0.5929, p < 0.02, respectively). We conclude that late-detected PKU patients showed the same MRI abnormalities reported in early-treated subjects ...Continue Reading

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Citations

Aug 5, 2009·Neuroradiology·Renzo ManaraAlberto B Burlina
Jul 5, 2005·Journal of Neurology·Belén Pérez-DueñasJaume Campistol
Sep 25, 2004·Movement Disorders : Official Journal of the Movement Disorder Society·Andrew H EvansAndrew J Lees
Oct 7, 2004·The American Journal of Medicine·W B Hanley
Jan 25, 2003·Journal of Intellectual Disability Research : JIDR·M GizewskaD Koziarska
Dec 31, 1998·Current Opinion in Neurology·J Pietz
Aug 31, 2018·Orphanet Journal of Rare Diseases·Danique van VlietFrancjan J van Spronsen
Aug 15, 2021·Parkinsonism & Related Disorders·Tina MainkaChristos Ganos

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