title: Medical management of moyamoya disease and recurrent stroke in an infant with Majewski osteodysplastic primordial dwarfism type II (MOPD II).
abstract: We report an infant diagnosed with Majewski osteodysplastic primordial dwarfism type II at age 8 months, who experienced cerebrovascular morbidities related to this entity. Molecular analysis identified c.2609+1 G>A, intron 14, homozygous splice site mutation in the pericentrin gene. At age 18 months, she developed recurrent strokes and hemiparesis. Brain magnetic resonance imaging and magnetic resonance angiography showed abnormal gyral pattern, cortical acute infarcts, bilateral stenosis of the internal carotid arteries and reduced flow on the cerebral arteries, consistent with moyamoya disease. In Majewski osteodysplastic primordial dwarfism type II, life expectancy is reduced because of high risk of stroke secondary to cerebral vascular anomalies (aneurysms, moyamoya disease). Periodic screening for vascular events is recommended in individuals with Majewski osteodysplastic primordial dwarfism type II every 12-18 months following diagnosis. Our patient was medically managed with low molecular weight heparin followed with aspirin prophylaxis, in addition to carbamazepine and physical rehabilitation.
  
  
  CONCLUSIONS
  We report an infant with moyamoya disease and recurrent stroke presenting 10 months after diagnosis (at age 18 months), and discuss the outcome of nonsurgical medical management. The presented case is the second youngest case developing stroke and moyamoya disease.
authors.affiliation: Department of Pediatrics, Division of Pediatric Genetic, Hacettepe University Children's Hospital, 06100 Ankara, Turkey. korkmazkilic@yahoo.com.tr
authors.forename: Esra
authors.initials: E
authors.lastname: Kılıç
authors.forename: Eda
authors.initials: E
authors.lastname: Utine
authors.forename: Sule
authors.initials: S
authors.lastname: Unal
authors.forename: Göknur
authors.initials: G
authors.lastname: Haliloğlu
authors.forename: Kader Karli
authors.initials: KK
authors.lastname: Oğuz
authors.forename: Mualla
authors.initials: M
authors.lastname: Cetin
authors.forename: Koray
authors.initials: K
authors.lastname: Boduroğlu
authors.forename: Yasemin
authors.initials: Y
authors.lastname: Alanay
mesh_terms: D000941:Antigens / Q000235:genetics; D002220:Carbamazepine / Q000627:therapeutic use*; D004392:Dwarfism / Q000150:complications*; D005260:Female; D005317:Fetal Growth Retardation; D006495:Heparin, Low-Molecular-Weight / Q000627:therapeutic use*; D006801:Humans; D007223:Infant; D018810:Magnetic Resonance Angiography; D008831:Microcephaly / Q000150:complications*; D009072:Moyamoya Disease / Q000150:complications / Q000188:drug therapy*; D010009:Osteochondrodysplasias / Q000150:complications*; D012008:Recurrence; D020521:Stroke / Q000188:drug therapy* / Q000209:etiology
chemical_list: D000941:Antigens; D006495:Heparin, Low-Molecular-Weight; C086178:pericentrin; D002220:Carbamazepine