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Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III.
Acta Neuropathol 2011; 121(4):545-54AN

Abstract

Microcephalic osteodysplastic primordial dwarfism (MOPD) is a rare microlissencephaly syndrome, with at least two distinct phenotypic and genetic types. MOPD type II is caused by pericentrin mutations, while types I and III appear to represent a distinct entity (MOPD I/III) with variably penetrant phenotypes and unknown genetic basis. The neuropathology of MOPD I/III is little understood, especially in comparison to other forms of lissencephaly. Here, we report postmortem brain findings in an 11-month-old female infant with MOPD I/III. The cerebral cortex was diffusely pachygyric, with a right parietal porencephalic lesion. Histologically, the cortex was abnormally thick and disorganized. Distinct malformations were observed in different cerebral lobes, as characterized using layer-specific neuronal markers. Frontal cortex was severely disorganized and coated with extensive leptomeningeal glioneuronal heterotopia. Temporal cortex had a relatively normal 6-layered pattern, despite cortical thickening. Occipital cortex was variably affected. The corpus callosum was extremely hypoplastic. Brainstem and cerebellar malformations were also present, as well as old necrotic foci. Findings in this case suggest that the cortical malformation in MOPD I/III is distinct from other forms of pachygyria-lissencephaly.

Authors+Show Affiliations

Department of Neurosurgery, University of Washington, Center for Integrative Brain Research, Seattle Children's Hospital, Box C9S-10, 1900 Ninth Ave, Seattle, WA 98101, USA.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

20857301

Citation

Juric-Sekhar, Gordana, et al. "Neuronal Migration Disorders in Microcephalic Osteodysplastic Primordial Dwarfism Type I/III." Acta Neuropathologica, vol. 121, no. 4, 2011, pp. 545-54.
Juric-Sekhar G, Kapur RP, Glass IA, et al. Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III. Acta Neuropathol. 2011;121(4):545-54.
Juric-Sekhar, G., Kapur, R. P., Glass, I. A., Murray, M. L., Parnell, S. E., & Hevner, R. F. (2011). Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III. Acta Neuropathologica, 121(4), pp. 545-54. doi:10.1007/s00401-010-0748-0.
Juric-Sekhar G, et al. Neuronal Migration Disorders in Microcephalic Osteodysplastic Primordial Dwarfism Type I/III. Acta Neuropathol. 2011;121(4):545-54. PubMed PMID: 20857301.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III. AU - Juric-Sekhar,Gordana, AU - Kapur,Raj P, AU - Glass,Ian A, AU - Murray,Mitzi L, AU - Parnell,Shawn E, AU - Hevner,Robert F, Y1 - 2010/09/21/ PY - 2010/05/17/received PY - 2010/09/09/accepted PY - 2010/09/09/revised PY - 2010/9/22/entrez PY - 2010/9/22/pubmed PY - 2011/7/2/medline SP - 545 EP - 54 JF - Acta neuropathologica JO - Acta Neuropathol. VL - 121 IS - 4 N2 - Microcephalic osteodysplastic primordial dwarfism (MOPD) is a rare microlissencephaly syndrome, with at least two distinct phenotypic and genetic types. MOPD type II is caused by pericentrin mutations, while types I and III appear to represent a distinct entity (MOPD I/III) with variably penetrant phenotypes and unknown genetic basis. The neuropathology of MOPD I/III is little understood, especially in comparison to other forms of lissencephaly. Here, we report postmortem brain findings in an 11-month-old female infant with MOPD I/III. The cerebral cortex was diffusely pachygyric, with a right parietal porencephalic lesion. Histologically, the cortex was abnormally thick and disorganized. Distinct malformations were observed in different cerebral lobes, as characterized using layer-specific neuronal markers. Frontal cortex was severely disorganized and coated with extensive leptomeningeal glioneuronal heterotopia. Temporal cortex had a relatively normal 6-layered pattern, despite cortical thickening. Occipital cortex was variably affected. The corpus callosum was extremely hypoplastic. Brainstem and cerebellar malformations were also present, as well as old necrotic foci. Findings in this case suggest that the cortical malformation in MOPD I/III is distinct from other forms of pachygyria-lissencephaly. SN - 1432-0533 UR - https://www.unboundmedicine.com/medline/citation/20857301/Neuronal_migration_disorders_in_microcephalic_osteodysplastic_primordial_dwarfism_type_I/III_ L2 - https://dx.doi.org/10.1007/s00401-010-0748-0 DB - PRIME DP - Unbound Medicine ER -