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Hemimegalencephaly

Histological, immunohistochemical, ultrastructural and cytofluorimetric study of six patients

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Abstract

Hemimegalencephaly (HME) is an uncommon sporadic nonfamilial congenital dysplastic abnormality of the central nervous system, characterized by enlargment of one cerebral hemisphere, with cranial asymmetry, hemiparesis, epilepsy, and mental retardation. It can occur in isolation or associated with various anomalies, namely skin disorders. The main neuropathologic findings are hemispheric gigantism, macro- and/or micropolygyria, cortical thickening with lack of lamination, blurred boundaries of the gray and white matter, and large ortho- and heterotopic neural cells. The results obtained by morphological investigations carried out on six patients with HME, compared with the findings recorded in similar studies performed on one patient with tuberous sclerosis (TS) and another with pachygyria, allow the authors to (a) confirm the dysplastic nature of HME and its autonomy from TS; (b) demonstrate that ortho- and heterotopic neuronal cells do not differentiate completely during proliferation and migration from the germinal matrix; (c) document, by means of flow cytometric study, a normal euploid DNA content in the enlarged hemisphere, consequently ruling out heteroploidy as a cause of both cell “hypertrophy” and enlargement of the malformed cerebral hemisphere.

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Authors and Affiliations

  1. Sezlone di Anatomia Patologica, Dipartimento di Medicina Sperimentale e Patologia, Università “La Sapienza,” Policlinico Umberto I, Viale Regina Elena, 324, I-00161, Rome, Italy

    Cesare Bosman & Alessandro Corsi

  2. Servizio di Anatomia e Istologia Patologica, IRCCS-Ospedale Pediatrico “Bambino Gesù, Rome, Italy

    Renata Boldrini

  3. Servizio di Anatomia Patologica, IRCCS-Ospedale “Casa Sollievo della Sofferenza,”, S. Giovanni Rotondo, Foggia, Italy

    Cesare Bosman & Lucia Dimitri

  4. Divisione di Neurochirurgia Pediatrica, Università “Cattolica Sacro Cuore”, Rome, Italy

    Concezio Di Rocco

  5. Dipartimento di Medicina Sperimentale, Università dell' Aquila, L'Aquila, Italy

    Alessandro Corsi

Authors
  1. Cesare Bosman
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  2. Renata Boldrini
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  3. Lucia Dimitri
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  4. Concezio Di Rocco
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  5. Alessandro Corsi
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Bosman, C., Boldrini, R., Dimitri, L. et al. Hemimegalencephaly. Child's Nerv Syst 12, 765–775 (1996). https://doi.org/10.1007/BF00261595

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  • DOI: https://doi.org/10.1007/BF00261595

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