Advertisement

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

  • Yong Han
  • Hangzhou WangEmail author
Case Report

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.

Keywords

Jaffe-Campanacci syndrome Intracranial arterial dolichoectasia Skull damage 

Notes

Funding

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

Compliance with ethical standards

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.

References

  1. 1.
    Boardman P, Byrne JV (1998) Giant fusiform basilar artery aneurysm: endovascular treatment by flow reversal in the basilar artery. Br J Radiol 71:332–335CrossRefGoogle Scholar
  2. 2.
    Caplan LR (2005) Dilatative arteriopathy (dolichoectasia): what is known and not known. Ann Neurol 57:469–471CrossRefGoogle Scholar
  3. 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 15:218CrossRefGoogle Scholar
  4. 4.
    Colby RS, Saul RA (2003) Is Jaffe-Campanacci syndrome just a manifestation of neurofibromatosis type 1? Am J Med Genet A 123a:60–63CrossRefGoogle Scholar
  5. 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 21:240–244CrossRefGoogle Scholar
  6. 6.
    Gutierrez J, Sacco RL, Wright CB (2011) Dolichoectasia-an evolving arterial disease. Nat Rev Neurol 7:41–50CrossRefGoogle Scholar
  7. 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 596CrossRefGoogle Scholar
  8. 8.
    Lou M, Caplan LR (2010) Vertebrobasilar dilatative arteriopathy (dolichoectasia). Ann N Y Acad Sci 1184:121–133CrossRefGoogle Scholar
  9. 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 16:448–459CrossRefGoogle Scholar
  10. 10.
    Passero SG, Calchetti B, Bartalini S (2005) Intracranial bleeding in patients with vertebrobasilar dolichoectasia. Stroke 36:1421–1425CrossRefGoogle Scholar
  11. 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 6:389–393CrossRefGoogle Scholar
  12. 12.
    Vandersteene J, Santens P (2012) Severe dolichoectasia of the intracranial arteries. Acta Neurol Belg 112:233CrossRefGoogle Scholar
  13. 13.
    Vasovic L, Trandafilovic M, Jovanovic I, Ugrenovic S, Vlajkovic S (2012) Vertebral and/or basilar dolichoectasia in human adult cadavers. Acta Neurochir 154:1477–1488CrossRefGoogle Scholar
  14. 14.
    Weinberger J (2006) Comparison of warfarin and aspirin for symptomatic intracranial arterial stenosis. Curr Cardiol Rep 8:7CrossRefGoogle Scholar
  15. 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 50:64–70Google Scholar

Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Department of NeurosurgeryChildren’s Hospital of Soochow UniversitySuzhouPeople’s Republic of China

Personalised recommendations