Hemimegalencephaly Histological, immunohistochemical, ultrastructural and cytofluorimetric study of six patients

Cesare Bosman, Renata Boldrini, Lucia Dimitri, Concezio Di Rocco, Alessandro Corsi

Research output: Contribution to journalArticle

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 orthoand 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 clysplastic 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.

Original languageEnglish
Pages (from-to)765-775
Number of pages11
JournalChild's Nervous System
Volume12
Issue number12
Publication statusPublished - Dec 1996

Keywords

  • Brain dysplasia
  • Hemimegalencephaly
  • Hemispherectomy
  • Pachygyria
  • Tuberous sclerosis

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

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