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Medical management of moyamoya disease and recurrent stroke in an infant with Majewski osteodysplastic primordial dwarfism type II (MOPD II).
Eur J Pediatr. 2012 Oct; 171(10):1567-71.EJ

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.

CONCLUSION

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+Show Affiliations

Department of Pediatrics, Division of Pediatric Genetic, Hacettepe University Children's Hospital, 06100 Ankara, Turkey. korkmazkilic@yahoo.com.trNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

22527565

Citation

Kılıç, Esra, et al. "Medical Management of Moyamoya Disease and Recurrent Stroke in an Infant With Majewski Osteodysplastic Primordial Dwarfism Type II (MOPD II)." European Journal of Pediatrics, vol. 171, no. 10, 2012, pp. 1567-71.
Kılıç E, Utine E, Unal S, et al. Medical management of moyamoya disease and recurrent stroke in an infant with Majewski osteodysplastic primordial dwarfism type II (MOPD II). Eur J Pediatr. 2012;171(10):1567-71.
Kılıç, E., Utine, E., Unal, S., Haliloğlu, G., Oğuz, K. K., Cetin, M., Boduroğlu, K., & Alanay, Y. (2012). Medical management of moyamoya disease and recurrent stroke in an infant with Majewski osteodysplastic primordial dwarfism type II (MOPD II). European Journal of Pediatrics, 171(10), 1567-71.
Kılıç E, et al. Medical Management of Moyamoya Disease and Recurrent Stroke in an Infant With Majewski Osteodysplastic Primordial Dwarfism Type II (MOPD II). Eur J Pediatr. 2012;171(10):1567-71. PubMed PMID: 22527565.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Medical management of moyamoya disease and recurrent stroke in an infant with Majewski osteodysplastic primordial dwarfism type II (MOPD II). AU - Kılıç,Esra, AU - Utine,Eda, AU - Unal,Sule, AU - Haliloğlu,Göknur, AU - Oğuz,Kader Karli, AU - Cetin,Mualla, AU - Boduroğlu,Koray, AU - Alanay,Yasemin, Y1 - 2012/04/17/ PY - 2012/02/03/received PY - 2012/03/26/accepted PY - 2012/4/25/entrez PY - 2012/4/25/pubmed PY - 2013/2/28/medline SP - 1567 EP - 71 JF - European journal of pediatrics JO - Eur J Pediatr VL - 171 IS - 10 N2 - UNLABELLED: 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. CONCLUSION: 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. SN - 1432-1076 UR - https://www.unboundmedicine.com/medline/citation/22527565/Medical_management_of_moyamoya_disease_and_recurrent_stroke_in_an_infant_with_Majewski_osteodysplastic_primordial_dwarfism_type_II__MOPD_II__ L2 - https://dx.doi.org/10.1007/s00431-012-1732-6 DB - PRIME DP - Unbound Medicine ER -