Abstract
Introduction
Proteus syndrome (PS) is a rarely seen, sporadic disorder with a wide range of abnormalities including asymmetrical overgrowth, skin lesions, dysregulated adipose tissue, and vascular malformations. Brain and spinal malformations are extremely rare; syringohydromyelia and arachnoid cyst have not been reported previously.
Materials and methods
We present a 5-year-old girl with PS having severe central nervous system (CNS) abnormalities demonstrated by magnetic resonance imaging (MRI) including craniocutaneous lipomatosis, hemimegalencephaly, arachnoid cyst, and syringohydromyelia.
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References
Biesecker LG, Happle R, Mulliken JB, Weksberg R, Graham JM Jr, Viljoen DL, Cohen MM Jr (1999) Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation. Am J Med Genet 84:389–395
Cohen MM Jr, Hayden PW (1979) A newly recognized hamartomatous syndrome. Birth defects Orig Artic Ser 15:291–296
Cohen MM Jr (2002) Vasculogenesis, angiogenesis, hemangiomas, and vascular malformations. Am J Med Genet 108:265–274
Cohen MM Jr (2005) Proteus syndrome: an update. Am J Med Genet C Semin Med Genet 137:38–52
Delone DR, Brown WD, Gentry LR (1999) Proteus syndrome: craniofacial and cerebral MRI. Neuroradiology 41:840–843
Dietrich RB, Glidden DE, Roth GM, Martin RA, Demo DS (1998) The proteus syndrome: CNS manifestations. AJNR Am J Neuroradiol 19:987–990
Homatisligil GS (1990) Proteus syndrome and hamatoes with overgrowth. Dysmorphol Clin Genet 4:87–102
Jamis-Dow C, Turner J, Biesecker LG, Choyke PL (2004) Radiologic manifestations of proteus syndrome. Radiographics 24:1051–1068
Smith JM, Kirk EP, Theodosopoulos G, Marshall GM, Walker J, Rogers M, Field M, Brereton JJ, Marsh DJ (2002) Germline mutation of the tumour suppressor PTEN in proteus syndrome. J Med Genet 39:937–940
Turner JT, Cohen MM Jr, Biesecker LG (2004) Reassessment of the proteus syndrome literature: application of diagnostic criteria to published cases. Am J Med Genet A 130:111–122
Wiedemann HR, Burgio GR (1986) Encephalocranio-cutaneous lipomatosis and proteus syndrome. Am J Med Genet 25:403–404
Zhou XP, Marsh DJ, Hampel H, Mulliken JB, Gimm O, Eng C (2000) Germline and germline mosaic PTEN mutations associated with a proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis. Hum Mol Genet 22:765–768
Zhou X, Hampel H, Thiele H, Gorlin RJ, Hennekam RC, Parisi M, Winter RM, Eng C (2001) Association of germline mutation in the PTEN tumour suppressor gene and proteus and proteus-like syndromes. Lancet 21:210–211
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A commentary on this paper is available at doi: 10.1007/s00381-007-0367-9.
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Anik, Y., Anik, I., Gonullu, E. et al. Proteus syndrome with syringohydromyelia and arachnoid cyst. Childs Nerv Syst 23, 1199–1202 (2007). https://doi.org/10.1007/s00381-007-0364-z
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DOI: https://doi.org/10.1007/s00381-007-0364-z