Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies

Authors

  • Francesco Brancati,

    1. Department of Biological Sciences, University “G. D'Annunzio”, Chieti, Italy
    2. Department of Experimental Medicine and Pathology, University “La Sapienza”, Rome, Italy
    3. CSS Hospital, IRCCS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
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  • Marco Castori,

    1. Department of Experimental Medicine and Pathology, University “La Sapienza”, Rome, Italy
    2. CSS Hospital, IRCCS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
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  • Rita Mingarelli,

    1. CSS Hospital, IRCCS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
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  • Bruno Dallapiccola

    Corresponding author
    1. Department of Experimental Medicine and Pathology, University “La Sapienza”, Rome, Italy
    2. CSS Hospital, IRCCS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
    • University of Rome “La Sapienza”, C.S.S. Mendel Institute, Viale Regina Margherita, 261, I-00198 Rome, Italy.
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Abstract

We report on a 2 9/12-year-old boy with disproportionate short stature, microcephaly, subtle craniofacial dysmorphisms, and generalized skeletal dysplasia, who developed a left hemiparesis. Brain neuroimaging disclosed a complex cerebral vascular anomaly (CVA) with stenosis of the right anterior cerebral artery and telangiectatic collateral vessels supplying the cerebral cortex, consistent with moyamoya disease. Based on clinical and skeletal features, a diagnosis of Majewski osteodysplastic primordial dwarfism type II (MOPD II) was established. Review of 16 published patients with CVA affected by either Seckel syndrome or MOPD II suggested that CVA is preferentially associated to the latter subtype affecting about 1/4 of the patients. © 2005 Wiley-Liss, Inc.

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