Journal Information
Vol. 58. Issue 5.
Pages 496-501 (1 May 2003)
Share
Share
Download PDF
More article options
Vol. 58. Issue 5.
Pages 496-501 (1 May 2003)
Full text access
Dos casos de síndrome de Proteus
Proteus Syndrome: Report Of Two Cases
Visits
31606
R. Velázquez Fragua, I. Pascual-Castroviejo
Corresponding author
pascas@inves.es

Jefe del Servicio de Neurología Pediátrica. Hospital Universitario La Paz.P. de la Castellana, 261. 28046 Madrid. España.
Servicio de Neurología Pediátrica. Hospital Universitario La Paz. Madrid. España.
This item has received
Article information

El síndrome de Proteus es un trastorno complejo, que consiste en malformaciones del mesodermo, del esqueleto y crecimientos hamartomatosos. Se caracteriza por presentarse de forma muy variable y con distribución de las lesiones en mosaico. Los 2 casos ilustran el amplio polimorfismo del síndrome de Proteus. El segundo caso, además, presentó una fractura de pubis, la cual no se ha encontrado descrita previamente en la literatura médica sobre el síndrome de Proteus.

Palabras clave:
Síndrome de Proteus
Hemihipertrofia
Retraso mental
Fractura ósea

Proteus syndrome is a complex disorder, consisting of mesodermal and skeletal malformations as well as hamartomatous overgrowth. It is characterized by highly variable presentation and mosaic-pattern lesions. The two cases described herein illustrate the wide polymorphism of this syndrome. The second case also had a pubic fracture,which we have not previously seen reported in the medical literature on Proteus syndrome.

Key words:
Proteus syndrome
Hemihypertrophy
Mental retardation
Bone fracture
Full text is only aviable in PDF
Bibliografía
[1.]
E.A. Bouzas, D. Krasnewich, M. Kotroumanidis, A. Papadimitrou, J.C. Marini, M.I. Kaiser-Kupfer.
Ophthalmologic examination in the diagnosis of Proteus syndrome..
Ophthalmlogy, 100 (1993), pp. 334-338
[2.]
H.R. Wiedemann, G.R. Burgio, P. Aldenhoff, J. Kunze, H.J. Kaufmann, E. Schirg.
The Proteus syndrome..
Eur J Pediatr, 140 (1983), pp. 5-12
[3.]
M.M. Cohen Jr..
Proteus Syndrome: Clinical evidence for somatic mosaicism and selective review..
Am J Med Genet, 47 (1993), pp. 645-652
[4.]
L.G. Biesecker, R. Happle, J.B. Mulliken, R. Weksberg, J.M. Graham Jr., D.L. Viljoen, et al.
Proteus syndrome: Diagnostic criteria, differential diagnosis, and patient evaluation..
Am J Med Genet, 84 (1999), pp. 389-395
[5.]
D.R. De Lone, W.D. Brown, L.R. Gentry.
Proteus syndrome: Craniofacial and cerebral MRI..
Neuroradiolgy, 41 (1994), pp. 840-843
[6.]
X.P. Zhou, H. Hampel, H. Thiele, R.J. Gorlin, R.C.M Hennekam, M. Parisi, et al.
Association of germline mutation in the PTEN tumour supressor gene and Proteus and Proteus like syndromes..
Lancet, 358 (2001), pp. 210-211
[7.]
L.G. Biesecker, M.J. Rosenberg, S. Vacha, J.T. Turner, M.M. Cohen.
PTEN mutations and Proteus syndrome..
[8.]
M.A. Martínez Granero, M.C. Roche Herrero, M. De Ceano-Vivas de la Calle, A. Martínez-Bermejo, I. Pascual-Castroviejo, F. Contreras Rubio.
Síndrome de Proteus y lipomatosis encefalocraneocutánea, ¿una misma hamartomatosisα A propósito de un caso severo..
An Esp Pediatr, 49 (1998), pp. 503-506
[9.]
B. Say, N.J. Carpenter.
Report of a case resembling the Proteus syndrome with a cromosomal abnoramality..
Am J Med Genet, (1988), pp. 987-989
[10.]
K. Barker, A. Martínez, R. Wang, S. Bevan, V. Murday, J. Shipley, et al.
PTEN mutations are uncommon in Proteus syndrome..
J Med Genet, 38 (2001), pp. 480-481
[11.]
J. Goodship, A. Redfearn, D. Milligan, D. Gardner-Medwin, J. Burn.
Transmission of Proteus syndrome from father to sonα.
J Med Genet, 28 (1991), pp. 781-785
[12.]
G. Kruger, L. Pelz, H.R. Wiedemann.
Transmission of Proteus syndrome from mother to sonα.
Am J Med Genet, 45 (1993), pp. 117-118
[13.]
S. Sigaudy, C. Fredouille, D. Gambarelli, A. Portier, D. Cassin, C. Piquet, et al.
Prenatal ultrasonographic findings in Proteus syndrome..
Prenat Diagn, 18 (1998), pp. 1091-1094
[14.]
P.D. Griffiths, R.J. Welch, D. Gardner-Medwin, A. Gholkar, V. McAllister.
The radiological features of hemimegalencephaly including three cases associated with Proteus syndrome..
Neuropediatrics, 25 (1994), pp. 140-144
[15.]
K.P. Meadows, C.A. Egan, S.L. Vanderhooft.
Patological case of the month..
Arch Pediatr Adolesc Med, 154 (2000), pp. 527-528
[16.]
K.B. Becktor, J.P. Becktor, P.S. Karnes, E.E. Keller.
Craneofacial and dental manifestations of Proteus syndrome: A case report..
Cleft Palate Craniofac J, 39 (2002), pp. 233-245
[17.]
R.B. Dietrich, D.E. Glidden, G.M. Roth, R.A. Martin, D.S. Demo.
The Proteus syndrome: CNS manifestations..
Am J Neuroradiol, 19 (1998), pp. 987-990
[18.]
R. Rizzo, L. Pavone, G. Micali, F. Nigro, M.M. Cohen Jr..
Encephalocraniocutaneous lipomatosis, Proteus syndrome, and somatic mosaicism..
Am J Med Genet, 47 (1993), pp. 653-655
[19.]
Neurofibromatosis: Conference statement..
Arch Neurol, 45 (1988), pp. 575-578
[20.]
J.A.R Tibles, M.M. Cohen.
The Proteus syndrome: The elephant man diagnosed..
BMJ, 293 (1986), pp. 683-685
[21.]
M.M. Cohen Jr..
Causes of premature death in Proteus syndrome..
Am J Med Genet, 101 (2001), pp. 1-3
Copyright © 2003. Asociación Española de Pediatría
Idiomas
Anales de Pediatría (English Edition)
Article options
Tools
es en

¿Es usted profesional sanitario apto para prescribir o dispensar medicamentos?

Are you a health professional able to prescribe or dispense drugs?