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. O., SARI KARABAĞ İ., AYDIN S.

CHILDS NERVOUS SYSTEM, cilt.40, sa.1, ss.219-225, 2024 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 40 Sayı: 1
  • Basım Tarihi: 2024
  • Doi Numarası: 10.1007/s00381-023-06150-5
  • Dergi Adı: CHILDS NERVOUS SYSTEM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.219-225
  • Anahtar Kelimeler: Developmental delay, Macrocephaly, Mega corpus callosum, Megalencephaly, Psychomotor retardation
  • Ondokuz Mayıs Üniversitesi Adresli: Evet

Özet

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.