title: Progressive neuropsychiatric manifestations of phenylketonuria in adulthood.
abstract: BACKGROUND
  Neuropsychiatric signs and MRI abnormalities can occur in patients with phenylketonuria in adulthood. We describe clinical and radiological features of phenylketonuric patients and we discuss the advantage of continuing diet in adulthood.
  
  
  METHODS
  We report late onset neuropsychiatric symptoms of four phenylketonuric patients (33-45years) diagnosed in infancy and report the case of a patient (33years) diagnosed with phenylketonuria because of late onset neurological signs. We describe clinical and radiological features of these 5 patients, and their evolution under diet and propose a review of the literature.
  
  
  RESULTS
  The main neurological abnormalities in phenylketonuric patients diagnosed in infancy are: brisk reflexes, spastic paraparesis, psychiatric signs that appear 10.5years after the diet arrest. A leukoencephalopathy was present in 93% of cases and 91.7% improve clinically after poor phenylalanine diet reintroduction. In 4 patients, neurological abnormalities (spastic paraparesis, dementia, Parkinsonism) led to the late diagnosis. Two of them had a leukoencephalopathy on brain MRI. Patients had high levels of phenylalanine (above 1500μmol/L) when neuropsychiatric signs occurred. Improvement after diet suggests that hyperphenylalaninemia has a direct toxic effect on the brain.
  
  
  CONCLUSIONS
  The long-term follow-up of phenylketonuric patients is mandatory to depict and treat neurological complications in time. Diet reintroduction is efficacious in most cases.
authors.affiliation: Department of Neurology, CHU de Reims, 45, rue Cognacq-Jay, 51100 Reims, France; URCA, UFR Médecine, 45, rue Cognacq-Jay, 51100 Reims, France.
authors.forename: L
authors.initials: L
authors.lastname: Daelman
authors.affiliation: Department of Neurology, Neurometabolic Unit and Reference Center for Lysosomal Diseases, Salpêtrière Hospital, 47-83, boulevard de l'Hôpital, 75651 Paris cedex 13, France; Groupe de recherche en neurométabolisme (GRC13), Université Pierre-et-Marie-Curie, 4, place Jussieu, 75005 Paris, France.
authors.forename: F
authors.initials: F
authors.lastname: Sedel
authors.affiliation: Department of Neurology, CHU de Reims, 45, rue Cognacq-Jay, 51100 Reims, France; URCA, UFR Médecine, 45, rue Cognacq-Jay, 51100 Reims, France; EA 2027 LPN, UFR psychologie, Université Paris VIII, 2, rue de la Liberté, 93526 Saint-Denis cedex, France. Electronic address: atourbah@chu-reims.fr.
authors.forename: A
authors.initials: A
authors.lastname: Tourbah
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D001008:Anxiety Disorders / Q000209:etiology / Q000523:psychology; D001289:Attention Deficit Disorder with Hyperactivity / Q000209:etiology / Q000523:psychology; D002648:Child; D002675:Child, Preschool; D003866:Depressive Disorder / Q000209:etiology / Q000523:psychology; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D001523:Mental Disorders / Q000209:etiology* / Q000523:psychology*; D009422:Nervous System Diseases / Q000209:etiology* / Q000523:psychology*; D010300:Parkinson Disease / Q000209:etiology / Q000523:psychology; D010661:Phenylketonurias / Q000150:complications* / Q000178:diet therapy / Q000523:psychology*; D055815:Young Adult
keywords: IRM; Leucoencéphalopathie; Leukoencephalopathy; MRI; Paraparesis; Paraparésie spastique; Phenynylketonuria; Phénylcétonurie