Cerebellar cortical dysplasia, chronic headache, and tremor in Proteus syndrome

Displasia cortical cerebelar, cefaleia crônica e tremor na síndrome de Proteus

Eduardo Rafael Pereira Valter Malaguido Clímaco Helvércio Fernando Polsaque Alves About the authors

Cerebellar cortical dysplasia, chronic headache, and tremor in Proteus syndrome

Displasia cortical cerebelar, cefaleia crônica e tremor na síndrome de Proteus

Eduardo Rafael Pereira; Valter Malaguido Clímaco; Helvércio Fernando Polsaque Alves

Centro Integrado de Neurologia e Neurocirurgia de Maringá, Maringá PR, Brazil

Correspondence

The patient was a 19-year-old woman with chronic headache, hand tremor, and school difficulties. The examination revealed large subcutaneous nodules, epidermal nevus, gigantism of the feet, hypertrophy of the hemibody, and mild postural hand tremor. The magnetic resonance imaging (MRI) showed distortion in the morphology of cerebellar folia, increased size of the cerebellum, and foci hypersignal on T2 (Figure). Based on diagnostic criteria published, this person has Proteus syndrome1.


Proteus syndrome is characterized by exaggerated and asymmetric growth of tissues, and etiology remains not understood, which is probably related to genetic mosaicism. The neurological manifestations include cortical dysplasia, mental retardation, epilepsy, brain tumors, and malformations in the posterior fossa2-4.

  • Correspondence:
    Eduardo Rafael Pereira
    Centro Integrado de Neurologia e Neurocirurgia de Maringá
    Rua Santos Dumont 719
    87050-100 Maringá PR - Brasil
    E-mail:
  • Conflict of interest:

    There is no conflict of interest to declare.

    Received 13 September 2011

    Received in final form 23 September 2011

    Accepted 30 September 2011

    • 1. Biesecker LG, Happle R, Mulliken JB, et al. Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation. Am J Med Genet Part A 1999;84:389-395.
    • 2. Dietrich RB, Glidden DE, Roth GM, Martin RA, Demo DS. The Proteus syndrome: CNS manifestations. Am J Neuroradiol 1998;19:987-990.
    • 3. Patel S, Barkovich AJ. Analysis and classification of cerebellar malformations. Am J Neuroradiol 2002;23:1074-1087.
    • 4. McKusick VA. Proteus Syndrome. 1986. [Internet]. [cited 2011 June 15]. Available from: http://www.ncbi.nlm.nih.gov/omim/176920

    Correspondence: Eduardo Rafael Pereira Centro Integrado de Neurologia e Neurocirurgia de Maringá Rua Santos Dumont 719 87050-100 Maringá PR - Brasil E-mail: erafaelpereira@gmail.com

    Publication Dates

    • Publication in this collection
      31 Jan 2012
    • Date of issue
      Mar 2012
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