Tags

Type your tag names separated by a space and hit enter

Microlissencephaly in microcephalic osteodysplastic primordial dwarfism: a case report and review of the literature.

Abstract

Microcephalic osteodysplastic primordial dwarfism (MOPD) is defined as a syndrome presenting with intrauterine and postnatal growth retardation, typical facial appearance, skeletal dysplasia and brain abnormalities. Autosomal-recessive inheritance is suspected. Sharing clinical manifestations, the former type III has been accepted to be the same entity as type I. We present the case of a male infant with MOPD I and micrencephaly with simplified gyral pattern to a degree defining it as microlissencephaly (MLIS). The brain abnormalities in MOPD I have not yet been classified. Reviewing the literature, we conclude that microlissencephaly appears to be the distinct developmental brain abnormality in MOPD I. Conversely, osteodysplastic changes have to be taken into consideration in the differential diagnosis of microlissencephaly. In addition, our patient suffered from acute lymphatic leukaemia which has not previously been described in association with MOPD I.

Links

  • Publisher Full Text
  • Authors+Show Affiliations

    ,

    Department of Paediatrics and Paediatric Neurology, University of Essen, Essen, Germany. lars.klinge@uni-essen.de

    , ,

    Source

    Neuropediatrics 33:6 2002 Dec pg 309-13

    MeSH

    Agenesis of Corpus Callosum
    Bone Diseases, Developmental
    Cerebral Cortex
    Child, Preschool
    Chromosome Aberrations
    Corpus Callosum
    Developmental Disabilities
    Dwarfism
    Follow-Up Studies
    Genes, Recessive
    Humans
    Infant
    Infant, Newborn
    Magnetic Resonance Imaging
    Male
    Microcephaly
    Neurologic Examination

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    12571786

    Citation

    Klinge, L, et al. "Microlissencephaly in Microcephalic Osteodysplastic Primordial Dwarfism: a Case Report and Review of the Literature." Neuropediatrics, vol. 33, no. 6, 2002, pp. 309-13.
    Klinge L, Schaper J, Wieczorek D, et al. Microlissencephaly in microcephalic osteodysplastic primordial dwarfism: a case report and review of the literature. Neuropediatrics. 2002;33(6):309-13.
    Klinge, L., Schaper, J., Wieczorek, D., & Voit, T. (2002). Microlissencephaly in microcephalic osteodysplastic primordial dwarfism: a case report and review of the literature. Neuropediatrics, 33(6), pp. 309-13.
    Klinge L, et al. Microlissencephaly in Microcephalic Osteodysplastic Primordial Dwarfism: a Case Report and Review of the Literature. Neuropediatrics. 2002;33(6):309-13. PubMed PMID: 12571786.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Microlissencephaly in microcephalic osteodysplastic primordial dwarfism: a case report and review of the literature. AU - Klinge,L, AU - Schaper,J, AU - Wieczorek,D, AU - Voit,T, PY - 2003/2/7/pubmed PY - 2003/4/24/medline PY - 2003/2/7/entrez SP - 309 EP - 13 JF - Neuropediatrics JO - Neuropediatrics VL - 33 IS - 6 N2 - Microcephalic osteodysplastic primordial dwarfism (MOPD) is defined as a syndrome presenting with intrauterine and postnatal growth retardation, typical facial appearance, skeletal dysplasia and brain abnormalities. Autosomal-recessive inheritance is suspected. Sharing clinical manifestations, the former type III has been accepted to be the same entity as type I. We present the case of a male infant with MOPD I and micrencephaly with simplified gyral pattern to a degree defining it as microlissencephaly (MLIS). The brain abnormalities in MOPD I have not yet been classified. Reviewing the literature, we conclude that microlissencephaly appears to be the distinct developmental brain abnormality in MOPD I. Conversely, osteodysplastic changes have to be taken into consideration in the differential diagnosis of microlissencephaly. In addition, our patient suffered from acute lymphatic leukaemia which has not previously been described in association with MOPD I. SN - 0174-304X UR - https://www.unboundmedicine.com/medline/citation/12571786/Microlissencephaly_in_microcephalic_osteodysplastic_primordial_dwarfism:_a_case_report_and_review_of_the_literature_ L2 - http://www.thieme-connect.com/DOI/DOI?10.1055/s-2002-37086 DB - PRIME DP - Unbound Medicine ER -