Top

Child's Nervous System

Published in:

01-10-2007 | Case Report

Proteus syndrome with syringohydromyelia and arachnoid cyst

Authors: Yonca Anik, Ihsan Anik, Erdem Gonullu, Nagihan Inan, Ali Demirci

Published in: Child's Nervous System | Issue 10/2007

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.

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 84:389–395PubMedCrossRef

Cohen MM Jr, Hayden PW (1979) A newly recognized hamartomatous syndrome. Birth defects Orig Artic Ser 15:291–296PubMed

Cohen MM Jr (2002) Vasculogenesis, angiogenesis, hemangiomas, and vascular malformations. Am J Med Genet 108:265–274PubMedCrossRef

Cohen MM Jr (2005) Proteus syndrome: an update. Am J Med Genet C Semin Med Genet 137:38–52PubMed

Delone DR, Brown WD, Gentry LR (1999) Proteus syndrome: craniofacial and cerebral MRI. Neuroradiology 41:840–843PubMedCrossRef

Dietrich RB, Glidden DE, Roth GM, Martin RA, Demo DS (1998) The proteus syndrome: CNS manifestations. AJNR Am J Neuroradiol 19:987–990PubMed

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 24:1051–1068PubMedCrossRef

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 39:937–940PubMedCrossRef

10.

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 130:111–122PubMedCrossRef

11.

Wiedemann HR, Burgio GR (1986) Encephalocranio-cutaneous lipomatosis and proteus syndrome. Am J Med Genet 25:403–404PubMedCrossRef

12.

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 22:765–768CrossRef

13.

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 21:210–211CrossRef

Title: Proteus syndrome with syringohydromyelia and arachnoid cyst
Authors: Yonca Anik
Ihsan Anik
Erdem Gonullu
Nagihan Inan
Ali Demirci
Publication date: 01-10-2007
Publisher: Springer-Verlag
Published in: Child's Nervous System / Issue 10/2007
Print ISSN: 0256-7040
Electronic ISSN: 1433-0350
DOI: https://doi.org/10.1007/s00381-007-0364-z

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Proteus syndrome with syringohydromyelia and arachnoid cyst

Abstract

Introduction

Materials and methods

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Introduction

Materials and methods

Please log in to get access to this content

Other articles of this Issue 10/2007

Hydrocephalus in children born in 1999–2002: epidemiology, outcome and ophthalmological findings

Sarcomas in children with neurofibromatosis type 1—poor prognosis despite aggressive combined therapy in four patients treated in a single oncological institution

Surgical treatment of myelomeningocele: year 2000 hospitalization, outcome, and cost analysis in the US

Diffuse alterations in synaptic protein expression following focal traumatic brain injury in the immature rat

Hemangiopericytoma of thoracic spine: a rare bony tumor

A case of congenital kyphosis misdiagnosed as cerebral palsy