Medical management of moyamoya disease and recurrent stroke in an infant with Majewski osteodysplastic primordial dwarfism type II (MOPD II)

European Journal of Pediatrics

Volumn 171, Issue 10, 2012, Pages 1567-1571

  Kiliç, Esra ^a   Utine, Eda ^a   Ünal, Ds Şule ^a   Haliloǧlu, Göknur ^a   Oǧuz, Kader Karli ^a   Çetin, Mualla ^a   Boduroǧlu, Koray ^a   Alanay, Yasemin ^b  

^a HACETTEPE UNIVERSITY   (Turkey)

^b ACIBADEM UNIVERSITY   (Turkey)

Author keywords

Brain; Magnetic resonance imaging; Moyamoya disease; PCNT gene .MOPD II

Indexed keywords

ACETYLSALICYLIC ACID; CARBAMAZEPINE; ENOXAPARIN; PERICENTRIN;

ARTICLE; BRAIN EDEMA; BRAIN INFARCTION; CAROTID ARTERY OBSTRUCTION; CASE REPORT; CEREBROVASCULAR ACCIDENT; CHILD; CLINODACTYLY; DWARFISM; EPILEPTIC FOCUS; FEMALE; GENE MUTATION; GROWTH RETARDATION; HEMIPARESIS; HUMAN; INFANT DISEASE; INTRON; LIFE EXPECTANCY; MAGNETIC RESONANCE ANGIOGRAPHY; MAJEWSKI OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II; MICROCEPHALY; MICROGNATHIA; MOYAMOYA DISEASE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSIOTHERAPY; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT DISEASE; SHORT STATURE; SPEECH DISORDER; WALKING AID;

ANTIGENS; CARBAMAZEPINE; DWARFISM; FEMALE; FETAL GROWTH RETARDATION; HEPARIN, LOW-MOLECULAR-WEIGHT; HUMANS; INFANT; MAGNETIC RESONANCE ANGIOGRAPHY; MICROCEPHALY; MOYAMOYA DISEASE; OSTEOCHONDRODYSPLASIAS; RECURRENCE; STROKE;

EID: 84867577059     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-012-1732-6     Document Type: Article

References (12)

1. Achrol AS, Guzman R, Lee M, Steinberg GK (2009) Pathophysiology and genetic factors in moyamoya disease. Neurosurg Focus 26:E4
2. Bober MB, Khan N, Kaplan J, Lewis K, Feinstein JA, Scott CI Jr, Steinberg GK (2010)Majewski osteodysplastic primordial dwarfism type II (MOPD II): expanding the vascular phenotype. Am J Med Genet A 152:960-965
3. 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 A 139:212-215
4. Delaval B, Doxsey S (2008) Genetics dwarfism, where pericentrin gains stature. Science 319:732-733
5. 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 130:55-72
6. Ishikawa T, Houkin K, Kamiyama H, Abe H (1997) Effects of surgical revascularization on outcome of patients with pediatric moyamoya disease. Stroke 28:1170-1173
7. Klingseisen A, Jackson AP (2011) Mechanisms and pathways of growth failure in primordial dwarfism. Genes Dev 25:2011-2024
8. Majewski F, Ranke M, Schinzel A (1982) Studies of microcephalic primordial dwarfism II: the osteodysplastic type II ofprimordial dwarfism. Am J Med Genet 12:23-35
9. 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 (2008)Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science 319:816-819
10. Waldron JS, Hetts SW, Armstrong-Wells J, Dowd CF, Fullerton HJ, Gupta N, Lawton MT (2009) Multiple intracranial aneurysms and moyamoya disease associated with microcephalic osteodysplastic primordial dwarfism type II: surgical considerations. J Neurosurg Pediatr 4:439-444
11. Willems M, Geneviève D, Borck G, Baumann C, Baujat G, Bieth E, Edery P, Farra C, Gerard M, Héron D, Leheup B, Le Merrer M, Lyonnet S, Martin-Coignard D, Mathieu M, Thauvin-Robinet C, Verloes A, Colleaux L, Munnich A, Cormier-Daire V (2010) Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/MOPD II families. J Med Genet 47:797-802
12. Zimmerman WC, Sillibourne J, Rosa J, Doxsey SJ (2004) Mitosisspecific anchoring of gamma tubulin complexes by pericentrin controls spindle organization and mitotic entry. Mol Biol Cell 15:3642-3657