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Moyamoya-like vasculopathy and Seckel syndrome: just a coincidence?

  • Case Report
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Abstract

Introduction

Seckel syndrome (SS) and other microcephalic primordial dwarfisms (MPDs) are a group of autosomal recessive disorders characterized by prenatal and postnatal growth retardation, microcephaly, and distinct facial dysmorphic features. There are an increasing number of reports in the literature linking MPDs with cerebrovascular anomalies, including intracranial aneurysms and moyamoya.

Case report

An 18-year-old female patient with SS and mental retardation was referred for spontaneous subarachnoid hemorrhage. At the age of 3 years, she had suffered multifocal ischemic cerebrovascular accidents following an elective urological procedure. Cardiac, hematologic, and serologic workups were negative, and cerebral angiography was recommended but declined by the parents. Brain MRA and cerebral angiography showed bilateral narrowing of extracranial and intracranial internal carotid arteries (ICAs), obliteration of the right supraclinoid ICA without moyamoya collaterals, and multiple bilateral saccular aneurysms on the hypertrophied posterior cerebral arteries. Considering the patient's previous quality of life and the high risks of either endovascular or surgical treatment, all invasive treatments were withheld at the parents' request and only palliative care was offered.

Conclusion

It appears that patients with MPD are prone to the development of cerebrovascular anomalies. Therefore, imaging of cerebral vessels should be performed when such patients present with cerebral ischemia or stroke.

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References

  1. Codd PJ, Scott RM, Smith ER (2009) Seckel syndrome and moyamoya. J Neurosurg Pediatr 3:320–324

    Article  PubMed  Google Scholar 

  2. Di Bartolomeo R, Polidori G, Piastra M, Viola L, Zampino G, Chiaretti A (2003) Malignant hypertension and cerebral haemorrhage in Seckel syndrome. Eur J Pediatr 162:860–862

    Article  PubMed  Google Scholar 

  3. Majewski F, Goecke T (1982) Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome. Am J Med Genet 12:7–21

    Article  CAS  PubMed  Google Scholar 

  4. D’Angelo VA, Ceddia AM, Zelante L, Florio FP (1998) Multiple intracranial aneurysms in a patient with Seckel syndrome. Childs Nerv Syst 14:82–84

    Article  PubMed  Google Scholar 

  5. Sorof JM, Dow-Smith C, Moore PJ (1999) Severe hypertensive sequelae in a child with Seckel syndrome (bird-like dwarfism). Pediatr Nephrol 13:343–346

    Article  CAS  PubMed  Google Scholar 

  6. Kutlu R, Alkan A, Kutlu O, Yakinci C (2004) Seckel syndrome with polyarteritis nodosa. Indian Pediatr 41:1158–1161

    PubMed  Google Scholar 

  7. Majewski F, Ranke M, Schinzel A (1982) Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism. Am J Med Genet 12:23–35

    Article  CAS  PubMed  Google Scholar 

  8. Majewski F, Stoeckenius M, Kemperdick H (1982) Studies of microcephalic primordial dwarfism III: an intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles–osteodysplastic primordial dwarfism type III. Am J Med Genet 12:37–42

    Article  CAS  PubMed  Google Scholar 

  9. Brancati F, Castori M, Mingarelli R, Dallapiccola B (2005) Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: clinical report and review of cerebral vascular anomalies. Am J Med Genet 139:212–215

    Article  PubMed  Google Scholar 

  10. Hall JG, Flora C, Scott CI Jr, Pauli RM, Tanaka KI (2004) Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings. Am J Med Genet 130A:55–72

    Article  PubMed  Google Scholar 

  11. Shanske A, Caride DG, Menasse-Palmer L, Bogdanow A, Marion RW (1997) Central nervous system anomalies in Seckel syndrome: report of a new family and review of the literature. Am J Med Genet 70:155–158

    Article  CAS  PubMed  Google Scholar 

  12. Kannu P, Kelly P, Aftimos S (2004) Microcephalic osteodysplastic primordial dwarfism type II: a child with café au lait lesions, cutis marmorata, and moyamoya disease. Am J Med Genet 128A:98–100

    Article  PubMed  Google Scholar 

  13. Nishimura G, Hasegawa T, Fujino M, Hori N, Tomita Y (2003) Microcephalic osteodysplastic primordial short stature type II with cafe-au-lait spots and moyamoya disease. Am J Med Genet 117A:299–301

    Article  PubMed  Google Scholar 

  14. Young ID, Barrow M, Hall CM (2004) Microcephalic osteodysplastic primordial short stature type II with café-au-lait spots and moyamoya disease: another patient. Am J Med Genet 127A:218–220

    Article  PubMed  Google Scholar 

  15. Scott RM, Smith ER (2009) Moyamoya disease and moyamoya syndrome. N Engl J Med 360:1226–1237

    Article  CAS  PubMed  Google Scholar 

  16. Suzuki J, Takaku A (1969) Cerebrovascular “moyamoya” disease. Disease showing abnormal net-like vessels in base of brain. Arch Neurol 20:288–299

    CAS  PubMed  Google Scholar 

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Correspondence to Claude Mercier.

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Rahme, R., Crevier, L., Dubois, J. et al. Moyamoya-like vasculopathy and Seckel syndrome: just a coincidence?. Childs Nerv Syst 26, 983–986 (2010). https://doi.org/10.1007/s00381-010-1142-x

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  • DOI: https://doi.org/10.1007/s00381-010-1142-x

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