Adult-onset phenylketonuria revealed by acute reversible dementia, prosopagnosia and parkinsonism

This is a preview of subscription content, log in to check access.

Fig. 1

References

  1. 1.

    Weglage J, Möller HE, Wiedermann C, Cipcic-Schmidt S, Zschocke J, Ullrich K (1998) In vivo NMR spectroscopy in patients with phenylketonuria: clinical significance of interindividual differences in brain phenylalanine concentrations. J Inherit Metab Disord 21:81–82

    CAS  Article  Google Scholar 

  2. 2.

    Kasim S, Moo R, Zschocke J, Jinnah HA (2001) Phenylketonuria presenting in adulthood with progressive spastic paraparesis and dementia. J Neurol Neurosurg Psichiatry 71:795–797

    CAS  Article  Google Scholar 

  3. 3.

    Weglage J, Oberwittler C, Marquardt T, Schellscheidt J, von Teeffelen-Heithoff A, Koch G, Gerding H (2000) Neurological deterioration in adult phenylketonuria. J Inherit Metab Dis 23:83–84

    CAS  Article  PubMed  Google Scholar 

  4. 4.

    Ishimaru K, Tamasawa N, Baba M, Matsunaga M, Takebe K (1993) Phenylketonuria with adult-onset neurological manifestation. Rinsho Shinkeigaku 33:961–965

    CAS  PubMed  Google Scholar 

  5. 5.

    Jousserand G, Antoine JC, Camdessanché JP (2010) Musty odour, mental retardation, and spastic paraplegia revealing phenylketonuria in adulthood. J Neurol 257:302–304

    Article  PubMed  Google Scholar 

  6. 6.

    Narayanan D, Barski R, Henderson MJ, Luvai A, Chandrajay D, Stainforth C, Bradley J, Rogozinski H, Sharma R (2014) Delayed diagnosis of phenylketonuria—a case report of two siblings. Ann Clin Biochem 51:406–408

    Article  PubMed  Google Scholar 

  7. 7.

    Anderson PJ, Leuzzi V (2010) White matter pathology in phenylketonuria. Mol Genet Metab 99:S3–S9

    CAS  Article  PubMed  Google Scholar 

  8. 8.

    Cleary MA, Walter JH, Wraith JE, White F, Tyler K, Jenkins JP (1995) Magnetic resonance imaging in phenylketonuria: reversal of cerebral white matter change. J Pediatr 127:251–255

    CAS  Article  PubMed  Google Scholar 

  9. 9.

    Pietz J, Kreis R, Schmidt H, Meyding-Lamadé UK, Rupp A, Boesch C (1996) Phenylketonuria: findings at MR imaging and localized in vivo H-1 MR spectroscopy of the brain in patients with early treatment. Radiology 201:413–420

    CAS  Article  PubMed  Google Scholar 

  10. 10.

    Oka M, Hasegawa S, Matsushige T, Inoue H, Kajimoto M, Ishikawa N, Isumi H, Ichiyama T (2014) Tau protein concentrations in the cerebrospinal fluid of children with acute disseminated encephalomyelitis. Brain Dev 36:16–20

    Article  PubMed  Google Scholar 

  11. 11.

    Weglage J, Wiedermann D, Denecke J, Feldmann R, Koch HG, Ullrich K, Moller HE (2002) Individual blood-brain barrier phenylalanine transport in siblings with classical phenylketonuria. J Inherit Metab Dis 25:431–436

    CAS  Article  PubMed  Google Scholar 

Download references

Acknowledgments

This research has been in part supported by a grant from Regione Toscana and National Ministry of Health to AF. Authors kindly thank Dr. F. Calì, Laboratorio di Genetica Molecolare, U.O.C. di Genetica Medica, Associazione OASI Maria SS. ONLUS—IRCCS, Troina, EN, for the execution of the genetic testing.

Conflicts of interest

On behalf of all authors, the corresponding author states that there is no conflict of interest.

Ethical standard

Patient’s anonymity was protected in this case report.

Author information

Affiliations

Authors

Corresponding author

Correspondence to Antonio Federico.

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

Rosini, F., Rufa, A., Monti, L. et al. Adult-onset phenylketonuria revealed by acute reversible dementia, prosopagnosia and parkinsonism. J Neurol 261, 2446–2448 (2014). https://doi.org/10.1007/s00415-014-7492-7

Download citation

Keywords

  • Newborn Screening
  • Phenylketonuria
  • White Matter Abnormality
  • Unbalanced Diet
  • Prosopagnosia