Skip to main content

Advertisement

SpringerLink
Log in

Proteus syndrome revealing itself after the treatment of a bilateral subdural haematoma

  • Case Report
  • Published:
Child's Nervous System Aims and scope Submit manuscript

Abstract

Introduction

Hypertrophy of the calvarium has different aetiologies, among them the rare Proteus syndrome.

Case report

We report here the case of a young girl initially treated for relapsing right then left large chronic subdural haematoma, who progressively developed craniofacial hypertrophy consistent with the diagnosis of Proteus syndrome. Calvarium hypertrophy was shaved and remodelled combining midface advancement, essentially for cosmetic purposes. During the first calvarium remodelling, important bleeding of the bone required large volume of blood replacement. Haemostasis workup revealed platelets aggregation anomalies. Bleeding issues during subsequent surgeries were controlled with tranexamic acid and desmopressin acetate.

Discussion

Other manifestations of Proteus syndrome, such as a right hypertrophy of the face with hypoplasia of its middle third, a pigmented epidermal nevus and asymmetric limbs and scoliosis, appeared progressively over time. Blood and fibroblast phosphatase and tensin homolog mutation was not found.

Conclusion

Literature review of operated patients with Proteus syndrome did not reveal an association with platelets anomalies. A complete haemostasis workup following this unexpected haemorrhagic complication is recommended for this rare pathology.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3

Similar content being viewed by others

References

  1. Adolphs N, Tinschert S, Bier J, Klein M (2004) Craniofacial hyperostoses in Proteus syndrome—a case report. J Craniomaxillofac Surg 32(6):391–394. doi:10.1016/j.jcms.2004.06.007

    Article  PubMed  Google Scholar 

  2. Ali AA, Al-Najjadah I (2006) Surgical treatment of an unusual patient with Proteus syndrome. J Craniofac Surg 17(1):175–178

    Article  PubMed  Google Scholar 

  3. Barker K, Martinez A, Wang R, Bevan S, Murday V, Shipley J, Houlston R, Harper J (2001) PTEN mutations are uncommon in Proteus syndrome. J Med Genet 38(7):480–481

    Article  PubMed  CAS  Google Scholar 

  4. Becktor KB, Becktor JP, Karnes PS, Keller EE (2002) Craniofacial and dental manifestations of Proteus syndrome: a case report. Cleft Palate Craniofac J 39(2):233–245. doi:10.1597/1545-1569(2002)039<0233:CADMOP>2.0.CO;2

    Article  PubMed  CAS  Google Scholar 

  5. Biesecker LG (2001) The multifaceted challenges of Proteus syndrome. JAMA 285(17):2240–2243

    Article  PubMed  CAS  Google Scholar 

  6. 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(5):389–395. doi:10.1002/(SICI)1096-8628(19990611)84:5<389::AID-AJMG1>3.0.CO;2-O

    Article  PubMed  CAS  Google Scholar 

  7. Bilkay U, Tokat C, Ozek C, Gundogan H, Erdem O, Gurler T, Cagdas A (2003) Proteus syndrome. Scand J Plast Reconstr Surg Hand Surg 37(5):307–310

    Article  PubMed  Google Scholar 

  8. Choi JW (2002) Incidence of nonresponsiveness to epinephrine in platelets from healthy humans. Acta Haematol 108(2):106–108

    Article  PubMed  Google Scholar 

  9. Chow LM, Baker SJ (2006) PTEN function in normal and neoplastic growth. Cancer Lett 241(2):184–196. doi:10.1016/j.canlet.2005.11.042

    Article  PubMed  CAS  Google Scholar 

  10. Cohen MM Jr (1993) Proteus syndrome: clinical evidence for somatic mosaicism and selective review. Am J Med Genet 47(5):645–652. doi:10.1002/ajmg.1320470514

    Article  PubMed  Google Scholar 

  11. Cohen MM Jr, Hayden PW (1979) A newly recognized hamartomatous syndrome. Birth Defects Orig Artic Ser 15(5B):291–296

    PubMed  Google Scholar 

  12. Dandine JB, James S, Van Garsse A, Born JD (2007) Intracranial hypertension in Proteus syndrome. Neurochirurgie 53(5):339–342. doi:10.1016/j.neuchi.2007.06.001

    Article  PubMed  Google Scholar 

  13. De Souza RA (2011) Origins of the elephant man: mosaic somatic mutations cause Proteus syndrome. Clin Genet 81(2):123–124. doi:10.1111/j.1399-0004.2011.01807.x

    Article  PubMed  Google Scholar 

  14. DeLone DR, Brown WD, Gentry LR (1999) Proteus syndrome: craniofacial and cerebral MRI. Neuroradiology 41(11):840–843

    Article  PubMed  CAS  Google Scholar 

  15. Dlouhy BJ, Menezes AH (2011) Osteopetrosis with Chiari I malformation: presentation and surgical management. J Neurosurg Pediatr 7(4):369–374. doi:10.3171/2011.1.PEDS10353

    Article  PubMed  Google Scholar 

  16. Hutspardol S, Chuansamrit A, Soisamrong A (2010) Spontaneous subgaleal hemorrhage in a girl with impaired adrenaline-induced platelet aggregation. J Med Assoc Thai 93(5):625–628

    PubMed  Google Scholar 

  17. Joshi U, van der Sluijs JA, Teule GJ, Pijpers R (2005) Proteus syndrome: a rare cause of hemihypertrophy and macrodactyly on bone scanning. Clin Nucl Med 30(9):604–605

    Article  PubMed  CAS  Google Scholar 

  18. Katsaros D, Grundfest-Broniatowski S (1998) Successful management of visceral Klippel–Trenaunay–Weber syndrome with the antifibrinolytic agent tranexamic acid (cyclocapron): a case report. Am Surg 64(4):302–304

    PubMed  CAS  Google Scholar 

  19. Legendre CM, Charpentier-Cote C, Drouin R, Bouffard C (2011) Neurofibromatosis type 1 and the “elephant man's” disease: the confusion persists: an ethnographic study. PLoS One 6(2):e16409. doi:10.1371/journal.pone.0016409

    Article  PubMed  CAS  Google Scholar 

  20. Lindhurst MJ, Sapp JC, Teer JK, Johnston JJ, Finn EM, Peters K, Turner J, Cannons JL, Bick D, Blakemore L, Blumhorst C, Brockmann K, Calder P, Cherman N, Deardorff MA, Everman DB, Golas G, Greenstein RM, Kato BM, Keppler-Noreuil KM, Kuznetsov SA, Miyamoto RT, Newman K, Ng D, O'Brien K, Rothenberg S, Schwartzentruber DJ, Singhal V, Tirabosco R, Upton J, Wientroub S, Zackai EH, Hoag K, Whitewood-Neal T, Robey PG, Schwartzberg PL, Darling TN, Tosi LL, Mullikin JC, Biesecker LG (2011) A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med 365(7):611–619. doi:10.1056/NEJMoa1104017

    Article  PubMed  CAS  Google Scholar 

  21. Lublin M, Schwartzentruber DJ, Lukish J, Chester C, Biesecker LG, Newman KD (2002) Principles for the surgical management of patients with Proteus syndrome and patients with overgrowth not meeting Proteus criteria. J Pediatr Surg 37(7):1013–1020

    Article  PubMed  Google Scholar 

  22. Manquillo A, Martinez-Mena J, Quintana P, Paradinas F, Saez J, Revilla C, Galan JM (1997) Neurophysiological aspects of Proteus syndrome. Rev Neurol 25(146):1572–1574

    PubMed  CAS  Google Scholar 

  23. Nguyen D, Turner JT, Olsen C, Biesecker LG, Darling TN (2004) Cutaneous manifestations of Proteus syndrome: correlations with general clinical severity. Arch Dermatol 140(8):947–953. doi:10.1001/archderm.140.8.947

    Article  PubMed  Google Scholar 

  24. Sakamoto Y, Nakajima H, Kishi K, Shimizu R, Nakajima T (2010) Management of craniofacial hyperostosis in Proteus syndrome. J Craniofac Surg 21(2):414–418. doi:10.1097/SCS.0b013e3181cfa7f0

    Article  PubMed  Google Scholar 

  25. 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(12):937–940

    Article  PubMed  CAS  Google Scholar 

  26. Stricker S (1992) Musculoskeletal manifestations of Proteus syndrome: report of two cases with literature review. J Pediatr Orthop 12(5):667–674

    PubMed  CAS  Google Scholar 

  27. Vaughn RY, Selinger AD, Howell CG, Parrish RA, Edgerton MT (1993) Proteus syndrome: diagnosis and surgical management. J Pediatr Surg 28(1):5–10

    Article  PubMed  CAS  Google Scholar 

  28. 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 358(9277):210–211

    Article  PubMed  CAS  Google Scholar 

Download references

Acknowledgments

We thank the parents for allowing us to report on their child's problems and for having given their written informed consent for publication of their daughter's photographs.

Author information

Authors and Affiliations

  1. Department of Neurosurgery, Faculty of Medicine, Geneva University Hospitals, Rue Gabrielle-Perret-Gentil 4 (ex-rue Micheli-du-Crest 24), 1211, Geneva 14, Switzerland

    Yassine El Hassani, Benoit Jenny & Benédict Rilliet

  2. Plastic, Reconstructive and Aesthetic Surgery Unit, Faculty of Medicine, Geneva University Hospitals, Geneva, Switzerland

    Brigitte Pittet-Cuenod

  3. Service of Genetic Medicine, Geneva University Hospitals, Geneva, Switzerland

    Armand Bottani

  4. Division of Maxillofacial and Oral Surgery, Department of Surgery, Faculty of Medicine, Geneva University Hospitals, Geneva, Switzerland

    Paolo Scolozzi

  5. Department of Pediatrics, Hematology Unit, Faculty of Medicine, Geneva University Hospitals, Geneva, Switzerland

    Hulya Ozsahin Ayse

Authors
  1. Yassine El Hassani
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Benoit Jenny
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Brigitte Pittet-Cuenod
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Armand Bottani
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Paolo Scolozzi
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Hulya Ozsahin Ayse
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Benédict Rilliet
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Yassine El Hassani.

Rights and permissions

Reprints and permissions

About this article

Cite this article

El Hassani, Y., Jenny, B., Pittet-Cuenod, B. et al. Proteus syndrome revealing itself after the treatment of a bilateral subdural haematoma. Childs Nerv Syst 29, 1927–1931 (2013). https://doi.org/10.1007/s00381-013-2090-z

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00381-013-2090-z

Keywords

Search

Navigation