KABUKI SYNDROME AND EPILEPSY
Keywords:Kabuki syndrome, epilepsy, west syndrome, KMT2D gene, ketogenic diet, antiepileptic drugs
AbstractBackground: Kabuki syndrome is a rare disease. In 2018, a global consensus on diagnostic criteria for Kabuki syndrome (KS) was published, diagnosing KS both with and without molecular genetic confirmation. Neurological symptoms are a major clinical problem in more than 80% of cases. Seizures occur with a frequency of 10% to 40% in Kabuki syndrome. Various degrees of severity of epilepsy in KS have been reported. There are isolated cases of West syndrome in KS worldwide. Objective: To investigate the frequency of epilepsy in KS and the features of West syndrome comorbid with KS, using evidence from reviews and describing the clinical presentation based on the history of a patient with molecularly positive KS. Methods: The study design was a two-centre retrospective observational study. Study subjects were paediatric patients with genetically verified KS. We conducted our own observation of 4 patients with KS and detailed a clinical case of a male patient with West syndrome in KS. Results: Epilepsy was found in 2 patients. Onset of epilepsy at 1.5 and 20 months of age. Both cases were characterised by a severe course of epilepsy. A rare form of epilepsy in KS, West syndrome, was described in patient M. Initial complaints included first seizures and delay in psychomotor development from 1.5 months of age. The clinical features of West syndrome, an electroencephalographic image, MRI of the brain, and the patient's seizure management were presented. Conclusion: Epilepsy in KS is not an uncommon clinical symptom that exacerbates the underlying disease. KS in combination with West syndrome exacerbates neurological deficits and leads to a significant delay in psycholinguistic and psychomotor development against a background of low efficacy of medication and differential effects of hormones and ketogenic diet.
Sсhugareva LM, Poteshkina OV, Galaktionova SM. Kabuki Syndrome. Neurological disorders, case report. HERALD of North-Western State Medical University named after I.I. Mechnikov; 2019. 11(2):59-70.
Borovikova NY, Borovikov KS, Mukhin KY, Mironov MB. Kabuki syndrome with epilepsy: Clinical case. Epilepsy and paroxysmal conditions; 2011. 3(4):8-13. (In Russ.) Available form: https://www.epilepsia.su/jour/article/view/229/257
Bôgershausen N, et al. Mutation update for kabuki syndrome genes KMT2D and KDM6A and further delineation of x-linked kabuki syndrome subtype 2. Hum Mutat; 2016. Sep;37(9):847-64. DOI: 10.1002/humu
Ito H, Mori K, Inoue N, Kagami S. A case of Kabuki syndrome presenting West syndrome. Brain Dev; 2007. Jul;29(6):380-2. DOI: 10.1016/j.braindev.2006.11.005
Adam MP, Banka S, Bjornsson HT, et al. Kabuki syndrome medical advisory board. Kabuki syndrome: International consensus diagnostic criteria. J Med Genet; 2019. Feb;56(2):89-95. DOI: 10.1136/jmedgenet-2018-105625
Mitsudome A, Yasumoto S, Fukami S, Ogawa A. Kabuki make-up syndrome associated with West syndrome. Acta Paediatr Jpn; 1997. Jun;39(3):392-4. DOI: 10.1111/j.1442-200x.1997.tb03763.x
Ogawa A. Yasumoto S, Tomoda Y et al. Favorable seizure outcome in Kabuki make-up syndrome associated with epilepsy. J Child Neurol; 2003. Aug;18(8):549-51. DOI: 10.1177/08830738030180080301
Kurahashi N, Miyake N, Mizuno S et al. Characteristics of epilepsy in patients with Kabuki syndrome with KMT2D mutations. Brain Dev; 2017. Sep;39(8):672-677. DOI: 10.1016/j.braindev.2017.03.025
Wan G, Zhang L, Li MN et al. A case report of Kabuki syndrome with infantile spasm and literature review. Med. J. Chinese People’s Lib. Army; 2020. 45(4):430–434. DOI: 10.11855/j.issn.0577-7402.2020.04.14
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