A Rare Case of Recurrent Disturbed Consciousness with Alternating Hemiplegia Associated with 46,XX,der(18)t(12;18)(p11.2;p11.2)

Abstract

Trisomy of the short arm of chromosome 12 (trisomy 12p) is a rare chromosomal abnormality causing dysmorphic features, congenital anomalies, intellectual disabilities, developmental delays, and seizures. Detailed information regarding the types of seizures is scarce owing to the low incidence of seizures. In contrast, 18p deletions and seizures are rare. Previous reports on trisomy 12p or monosomy 18p are limited, and little is known about epilepsy in children with trisomy 12p or monosomy 18p. Here, we report a case of 46,XX,der(18)t(12;18)(p11.2;p11.2) with repeatedly disturbed consciousness accompanied by alternating hemiplegia, corresponding to the electroencephalogram findings. G-banding of the parents showed balanced translocation of the mother. The last hospitalization occurred when the patient was 12 years old and presented with disturbed consciousness and left-sided hemiplegia. Electroencephalogram showed continuous 1 to 2 Hz slow waves in the right hemisphere and a theta burst in the left hemisphere. Based on the genes on chromosomes 12 and 18, the symptoms seemed to be related to partial trisomy 12p. Our case suggests the possibility of a novel seizure phenotype associated with trisomy 12p.

Keywords

developmental and epileptic encephalopathy - electroencephalogram - GRIN2B - hemiplegia

Authors' Contributions

A.K. and H.Y. designed and conceptualized the report and drafted the manuscript for intellectual content. H.H. analyzed and interpreted the genetic data and revised the manuscript for intellectual content. S.O. and S.T. analyzed and interpreted the data and revised the manuscript for intellectual content. K.N. and H.N. designed and conceptualized the study and revised the manuscript for intellectual content. All authors approved the final manuscript as submitted and agreed to be accountable for all aspects of this work.

Publikationsverlauf

Eingereicht: 04. Januar 2024

Angenommen: 27. November 2024

Artikel online veröffentlicht:
27. Dezember 2024

• References

• 1 Stengel-Rutkowski S, Albert A, Murken JD. et al. New chromosomal dysmorphic syndromes. 4. Trisomy 12p. Eur J Pediatr 1981; 136 (03) 249-262
• 2 Allen TL, Brothman AR, Carey JC, Chance PF. Cytogenetic and molecular analysis in trisomy 12p. Am J Med Genet 1996; 63 (01) 250-256
• 3 Segel R, Peter I, Demmer LA, Cowan JM, Hoffman JD, Bianchi DW. The natural history of trisomy 12p. Am J Med Genet A 2006; 140 (07) 695-703
• 4 Inage E, Suzuki M, Minowa K. et al. Phenotypic overlapping of trisomy 12p and Pallister-Killian syndrome. Eur J Med Genet 2010; 53 (03) 159-161
• 5 Poirsier C, Landais E, Bednarek N. et al. Report on 3 patients with 12p duplication including GRIN2B. Eur J Med Genet 2014; 57 (05) 185-194
• 6 Zumkeller W, Volleth M, Muschke P. et al. Genotype/phenotype analysis in a patient with pure and complete trisomy 12p. Am J Med Genet A 2004; 129A [phone]
• 7 Roberts W, Zurada A, Zurada-ZieliŃSka A, Gielecki J, Loukas M. Anatomy of trisomy 12. Clin Anat 2016; 29 (05) 633-637
• 8 Arghir A, Popescu R, Resmerita I. et al. Pallister-Killian syndrome versus trisomy 12p-a clinical study of 5 new cases and a literature review. Genes (Basel) 2021; 12 (06) 811
• 9 Elia M, Musumeci SA, Ferri R, Cammarata M. Trisomy 12p and epilepsy with myoclonic absences. Brain Dev 1998; 20 (02) 127-130
• 10 Guerrini R, Bureau M, Mattei MG, Battaglia A, Galland MC, Roger J. Trisomy 12p syndrome: a chromosomal disorder associated with generalized 3-Hz spike and wave discharges. Epilepsia 1990; 31 (05) 557-566
• 11 Turleau C. Monosomy 18p. Orphanet J Rare Dis 2008; 3: 4
• 12 Hasi-Zogaj M, Sebold C, Heard P. et al. A review of 18p deletions. Am J Med Genet C Semin Med Genet 2015; 169 (03) 251-264
• 13 Choi JY, Moon JU, Yoon DH, Yim J, Kim M, Jung MH. 18p deletion syndrome originating from rare unbalanced whole-arm translocation between chromosomes 13 and 18: a case report and literature review. Children (Basel) 2022; 9 (07) 987
• 14 Wei J, Xie Y, He W. et al. Clinical outcome: a monosomy 18p is better than a tetrasomy 18p. Cytogenet Genome Res 2014; 144 (04) 294-298
• 15 Pavone P, Pappalardo XG, Mustafa N. et al. Alternating hemiplegia of childhood: neurological comorbidities and intrafamilial variability. Ital J Pediatr 2022; 48 (01) 29
• 16 Pavone P, Pappalardo XG, Ruggieri M, Falsaperla R, Parano E. Alternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: a narrative review. Medicine (Baltimore) 2022; 101 (31) e29413
• 17 Benussi DG, Costa P, Zollino M. et al. Trisomy 12p and monosomy 4p: phenotype-genotype correlation. Genet Test Mol Biomarkers 2009; 13 (02) 199-204
• 18 Uchida IA, Lin CC. Identification of partial 12 trisomy by quinacrine fluorescence. J Pediatr 1973; 82 (02) 269-272
• 19 Sabo SL, Lahr JM, Offer M, Weekes A, Sceniak MP. GRIN2B-related neurodevelopmental disorder: current understanding of pathophysiological mechanisms. Front Synaptic Neurosci 2023; 14: 1090865