Print version ISSN 0004-282X
Arq. Neuro-Psiquiatr. vol.70 no.3 São Paulo Mar. 2012 Epub Jan 31, 2012
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
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.
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. [ Links ]
2. Dietrich RB, Glidden DE, Roth GM, Martin RA, Demo DS. The Proteus syndrome: CNS manifestations. Am J Neuroradiol 1998;19:987-990. [ Links ]
3. Patel S, Barkovich AJ. Analysis and classification of cerebellar malformations. Am J Neuroradiol 2002;23:1074-1087. [ Links ]
Eduardo Rafael Pereira
Centro Integrado de Neurologia e Neurocirurgia de Maringá
Rua Santos Dumont 719
87050-100 Maringá PR - Brasil
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