Syndrome of megalencephaly, mega corpus callosum, and complete lack of motor development: an unusual case and a literature review

Cetin E. B., Ceyhan Bilgici M. N., Tuncer G., SARI KARABAĞ İ., AYDIN S.

CHILDS NERVOUS SYSTEM, vol.40, no.1, pp.219-225, 2024 (SCI-Expanded, Scopus) identifier identifier identifier

  • Publication Type: Article / Review
  • Volume: 40 Issue: 1
  • Publication Date: 2024
  • Doi Number: 10.1007/s00381-023-06150-5
  • Journal Name: CHILDS NERVOUS SYSTEM
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE
  • Page Numbers: pp.219-225
  • Keywords: Developmental delay, Macrocephaly, Mega corpus callosum, Megalencephaly, Psychomotor retardation
  • Ondokuz Mayıs University Affiliated: Yes

Abstract

The syndrome of megalencephaly, mega corpus callosum (MEG-MegaCC) accompanied by complete lack of motor development is a rare condition with only few sporadic cases having been reported in the literature. In this paper, we describe a child from non-consanguineous parents presenting with MegaCC, psychomotor retardation, and language impairment linked to MEG-MegaCC syndrome. Genetic analysis, radiological findings, and detailed neurological phenotype of MEG-MegaCC syndrome with its overlapping syndromes would allow for a better classification of the disease spectrum.