Congenital dwarfisms can be associated with a variety of vascular anomalies. Here, we describe 2 patients with congenital dwarfisms who presented with moyamoya syndrome and underwent indirect intracranial revascularization. The pathogenesis of moyamoya syndrome in this population is not well understood, but it is a major cause of stroke and early death in these patients, making their timely diagnosis and management critical.

Keywords:
Moyamoya disease, Congenital dwarfs, Synangiosis, Stroke
1.
Takeuchi K, Shimizu K: Hypogenesis of bilateral internal carotid arteries. No To Shinkei 1957;9:37–43.
2.
Ajimi Y, Uchida K, Kawase T, Toya S: A case of Turner’s syndrome associated with moyamoya disease (in Japanese). No Shinkei Geka 1992;20:1021–1024.
3.
Berg JM, Armstrong D: On the association of moyamoya disease with Down’s syndrome. J Ment Defic Res 1991;35(pt 4):398–403.
4.
Kawai M, Nishikawa T, Tanaka M, Ando A, Kasajima T, Higa T, Tanikawa T, Kagawa M, Momma K: An autopsied case of Williams syndrome complicated by moyamoya disease. Acta Paediatr Jpn 1993;35:63–67.
5.
Rachmel A, Zeharia A, Neuman-Levin M, Weitz R, Shamir R, Dinari G: Alagille syndrome associated with moyamoya disease. Am J Med Genet 1989;33:89–91.
6.
Woody RC, Perrot LJ, Beck SA: Neurofibromatosis cerebral vasculopathy in an infant: clinical, neuroradiographic, and neuropathologic studies. Pediatr Pathol 1992;12:613–619.
7.
Nishimura G, Hasegawa T, Fujino M, Hori N, Tomita Y: Microcephalic osteodysplastic primordial short stature type II with cafe-au-lait spots and moyamoya disease (letter). Am J Med Genet A 2003;117A:299–301.
8.
D’Angelo VA, Ceddia A, Zelante L, Florio FP: Multiple intracranial aneurysms in a patient with Seckel syndrome. Childs Nerv Syst 1998;14:82–84.
9.
di Bartolomeo RD, Polidori G, Piastra M, Viola L, Zampino G, Chiaretti A: Malignant hypertension and cerebral haemorrhage in Seckel syndrome. Eur J Pediatr 2003;162:860–862.
10.
Kutlu R, Alkan A, Kutlu O, Yakinci C: Seckel syndrome with polyarteritis nodosa. Indian Pediatr 2004;41:1158–1161.
11.
Sorof JM, Dow-Smith C, Moore PJ: Severe hypertensive sequelae in a child with Seckel syndrome (bird-like dwarfism). Pediatr Nephrol 1999;13:343–346.
12.
Hall JG, Flora C, Scott CI Jr, Pauli RM, Tanaka KI: Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings. Am J Med Genet A 2004;130A:55–72.
13.
Brancati F, Castori M, Mingarelli R, Dallapiccola B: Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: clinical report and review of cerebral vascular anomalies. Am J Med Genet A 2005;139:212–215.
14.
Kannu P, Kelly P, Aftimos S: Microcephalic osteodysplastic primordial dwarfism type II: a child with café au lait lesions, cutis marmorata, and moyamoya disease. Am J Med Genet A 2004;128A:98–100.
15.
Ozawa H, Takayama C, Nishida A, Nagai T, Nishimura G, Higurashi M: Pachygyria in a girl with microcephalic osteodysplastic primordial short stature type II. Brain Dev 2005;27:237–240.
16.
Young ID, Barrow M, Hall CM: Microcephalic osteodysplastic primordial short stature type II with café-au-lait spots and moyamoya disease: another patient. Am J Med Genet A 2004;127A:218–220.
17.
Aoyagi M, Fukai N, Yamamoto M, Nakagawa K, Matsushima Y, Yamamoto K: Early development of intimal thickening in superficial temporal arteries in patients with moyamoya disease. Stroke 1996;27:1750–1754.
18.
Rauch A, Thiel CT, Schindler D, Wick U, Crow YJ, Ekici AB, van Essen AJ, Goecke TO, Al-Gazali L, Chrzanowska KH, Zweier C, Brunner HG, Becker K, Curry CJ, Dallapiccola B, Devriendt K, Dörfler A, Kinning E, Megarbane A, Meinecke P, Semple RK, Spranger S, Toutain A, Trembath RC, Voss E, Wilson L, Hennekam R, de Zegher F, Dörr HG, Reis A: Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science 2008;319:816–819.
19.
Hall JG: Re: Majewski osteoplastic primordial dwarfism type II (MOPD II) complicated by stroke. Am J Med Genet A 2006;140:1356.
20.
Majewski F, Goecke TO: Microcephalic osteodysplastic primordial dwarfism type II: report of three cases and review. Am J Med Genet 1998;80:25–31.
21.
Togao O, Mihara F, Yoshiura T, Tanaka A, Kuwabara Y, Morioka T, Matsushima T, Sasaki T, Honda H: Prevalence of stenoocclusive lesions in the renal and abdominal arteries in moyamoya disease. AJR Am J Roentgenol 2004;183:119–122.
22.
National High Blood Pressure Education Program Working Group on Hypertension Control in Children and Adolescents: Update on the 1987 Task Force Report on High Blood Pressure in Children and Adolescents: a working group report from the National High Blood Pressure Education Program. Pediatrics 1996;98(pt 1):649–658.
23.
Kuwabara Y, Ichiya Y, Sasaki M, Yoshida T, Masuda K, Ikezaki K, Matsushima T, Fukui M: Cerebral hemodynamics and metabolism in moyamoya disease: a positron emission tomography study. Clin Neurol Neurosurg 1997;99(suppl 2):S74–S78.
24.
Takagi Y, Hashimoto N, Goto Y: Haemodynamic ischemia in paediatric moyamoya disease associated with renovascular hypertension. Acta Neurochir (Wien) 1997;139:257–258.
25.
Bear PA, Moodie DS: Malignant primary cardiac tumors: the Cleveland Clinic experience, 1956 to 1986. Chest 1987;92:860–862.
26.
Veeravagu A, Guzman R, Patil CG, Hou LC, Lee M, Steinberg GK: Moyamoya disease in pediatric patients: outcomes of neurosurgical interventions. Neurosurg Focus 2008;24:E16.
© 2011 S. Karger AG, Basel
2011
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