Skip to main content

Advertisement

Log in

Intracranial arterial dolichoectasia and skull damage in a girl with Jaffe-Campanacci syndrome: a case report

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

Abstract

ᅟJaffe-Campanacci is a rare syndrome characterised by axillary freckles, multiple non-ossifying fibromas of the long bones and jaw, and café-au-lait spots, associated with some features of neurofibromatosis type 1 (NF1). Cherix et al. and Colby and Saul suggested that Jaffe-Campanacci syndrome (JCS) might be a distinct form of NF1. Intracranial arterial dolichoectasia (IADE) is defined as an increase in the length and diameter of at least one intracranial artery. Affected intracranial arteries are dilated, elongated and sometimes tortuous. But in this rare disease of JCS, neither skull damage nor IADE has been previously reported. Here, we introduce the case of an 11-year-old Chinese girl with IADE, skull damage and features of JCS.

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

Access this article

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

Instant access to the full article PDF.

Fig. 1
Fig. 2
Fig. 3
Fig. 4

Similar content being viewed by others

References

  1. Boardman P, Byrne JV (1998) Giant fusiform basilar artery aneurysm: endovascular treatment by flow reversal in the basilar artery. Br J Radiol 71:332–335

    Article  CAS  PubMed  Google Scholar 

  2. Caplan LR (2005) Dilatative arteriopathy (dolichoectasia): what is known and not known. Ann Neurol 57:469–471

    Article  PubMed  Google Scholar 

  3. Cherix S, Bilde Y, Becce F, Letovanec I, Rudiger HA (2014) Multiple non-ossifying fibromas as a cause of pathological femoral fracture in Jaffe-Campanacci syndrome. BMC Musculoskelet Disord 15:218

    Article  PubMed  PubMed Central  Google Scholar 

  4. Colby RS, Saul RA (2003) Is Jaffe-Campanacci syndrome just a manifestation of neurofibromatosis type 1? Am J Med Genet A 123a:60–63

    Article  PubMed  Google Scholar 

  5. Choi EM, Jung N, Shim YJ, Choi HJ, Kim JS, Kim HS, Song KS, Lee HJ, Kim SP (2016) Short stature and growth hormone deficiency in a girl with encephalocraniocutaneous lipomatosis and Jaffe-Campanacci syndrome: a case report. Ann Pediatric Endocrinol Metab 21:240–244

    Article  Google Scholar 

  6. Gutierrez J, Sacco RL, Wright CB (2011) Dolichoectasia-an evolving arterial disease. Nat Rev Neurol 7:41–50

    Article  PubMed  Google Scholar 

  7. Ionita CC, Xavier AR, Farkas J, Pullicino P (2004) Intracranial arterial dolichoectasia and its relation with atherosclerosis and stroke subtype. Neurology 63:596 author reply 596

    Article  PubMed  Google Scholar 

  8. Lou M, Caplan LR (2010) Vertebrobasilar dilatative arteriopathy (dolichoectasia). Ann N Y Acad Sci 1184:121–133

    Article  PubMed  Google Scholar 

  9. Douglas R, Stewart HB (2014) Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations or a distinct disorder. Genet Med 16:448–459

    Article  CAS  Google Scholar 

  10. Passero SG, Calchetti B, Bartalini S (2005) Intracranial bleeding in patients with vertebrobasilar dolichoectasia. Stroke 36:1421–1425

    Article  PubMed  Google Scholar 

  11. Shapiro M, Becske T, Riina HA, Raz E, Zumofen D, Nelson PK (2014) Non-saccular vertebrobasilar aneurysms and dolichoectasia: a systematic literature review. J Neurointerv Surg 6:389–393

    Article  PubMed  Google Scholar 

  12. Vandersteene J, Santens P (2012) Severe dolichoectasia of the intracranial arteries. Acta Neurol Belg 112:233

    Article  PubMed  Google Scholar 

  13. Vasovic L, Trandafilovic M, Jovanovic I, Ugrenovic S, Vlajkovic S (2012) Vertebral and/or basilar dolichoectasia in human adult cadavers. Acta Neurochir 154:1477–1488

    Article  PubMed  Google Scholar 

  14. Weinberger J (2006) Comparison of warfarin and aspirin for symptomatic intracranial arterial stenosis. Curr Cardiol Rep 8:7

    Article  PubMed  Google Scholar 

  15. Zambo I, Vesely K (2014) WHO classification of tumours of soft tissue and bone 2013: the main changes compared to the 3rd edition. Cesk Patol 50:64–70

    PubMed  Google Scholar 

Download references

Funding

The study was supported by Science and education program of Suzhou (KJXW2017023).

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Hangzhou Wang.

Ethics declarations

Conflict of interest

The authors received no financial and/or material support for the research reported in this paper. The authors state that there are no conflicts of interest arising from the research reported in this paper.

Ethics approval and consent to participate

Not applicable.

Consent for publication

Written informed consent was obtained from the patient for the publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.

Availability of data and material

Not applicable.

Additional information

Publisher’s note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Han, Y., Wang, H. Intracranial arterial dolichoectasia and skull damage in a girl with Jaffe-Campanacci syndrome: a case report. Childs Nerv Syst 35, 1051–1054 (2019). https://doi.org/10.1007/s00381-019-04064-9

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00381-019-04064-9

Keywords

Navigation