Pitt–Hopkins syndrome with electrical status epilepticus in slow-wave sleep: a case report
https://doi.org/10.17650/2073-8803-2019-14-2-42-48
Abstract
Pitt–Hoppkins syndrome is rare genetic disorder caused by a molecular variant of TCF4 which is involved in embryologic neuronal differentiation. The syndrome is characterized by specific facial dysmorphism, phychomotor delay, autistic behavior and intellectual disability. Other associated features include ealy-onset myopia, seizures, constipation and hyperventilation-apneic spells. We introduced a clinical case of the patient with molecularly confirmed TCF4 variant and previously undescribed combination with syndrome of the electrical status epilepticus during sleep.
About the Author
N. G. Lyukshina
MIDEAL LLC
Russian Federation
Russian Federation
43 Leningradskaya St., Tolyatti 445020
References
1. Amiel J., Rio M., de Pontual L. et al. Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt–Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. Am J Hum Genet 2007;80(5):988–993. DOI: 10.1086/515582.
2. Andrieux J., Lepretre F., Cuisset J.M. et al. Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array. Eur J Med Genet 2008;51(2):172–7. DOI: 10.1016/j.ejmg.2007.12.002.
3. Armani R., Archer H., Clarke A. et al. Transcription factor 4 and myocyte enhancer factor 2C mutations are not common causes of Rett syndrome. Am J Med Genet A 2012;158A(4):713–9. DOI: 10.1002/ajmg.a.34206.
4. Brockschmidt A., Todt U., Ryu S. et al. Severe mental retardation with breathing abnormalities (Pitt–Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4. Hum Mol Genet 2007;16(12):1488–94. DOI: 10.1093/hmg/ddm099.
5. De Pontual L., Mathieu Y., Golzio C. et al. Mutational, functional, and expression studies of the TCF4 gene in Pitt–Hopkins syndrome. Hum Mutat 2009;30(4):669– 76. DOI: 10.1002/humu.20935.
6. Flora A., Garcia J.J., Thaller C., Zoghbi H.Y. The E-protein Tcf4 interacts with Math1 to regulate differentiation of a specific subset of neuronal progenitors. Proc Natl Acad Sci USA 2007;104(39):15382–7. DOI: 10.1073/pnas.0707456104.
7. Ghosh P.S., Friedman N.R., Ghosh D. Pitt–Hopkins syndrome in a boy with Charcot Marie Tooth disease type 1A: a rare co-occurrence of 2 genetic disorders. J Child Neurol 2012;27(12):1602–6. DOI: 10.1177/0883073812437242.
8. Hasi M., Soileau B., Sebold C. et al. The role of the TCF4 gene in the phenotype of individuals with 18q segmental deletions. Hum Genet 2011;130(6):777–87. DOI: 10.1007/s00439-011-1020-y.
9. Marangi G., Ricciardi S., Orteschi D. et al. Proposal of a clinical score for the molecular test for Pitt–Hopkins syndrome. Am J Med Genet A 2012;158A(7): 1604–11. DOI: 10.1002/ajmg.a.35419.
10. Ouvrier R. Hyperventilation and the Pitt–Hopkins syndrome. Dev Med Child Neurol. 2008;50(7):481. DOI: 10.1111/j.1469-8749.2008.03022.x.
11. Pitt D., Hopkins I. A syndrome of mental retardation, wide mouth and intermittent overbreathing. Aust Paediatr J 1978;14(3):182–4.
12. Rosenfeld J.A., Leppig K., Ballif B.C. et al. Genotype-phenotype analysis of TCF4 mutations causing Pitt–Hopkins syndrome shows increased seizure activity with missense mutations. Genet Med 2009;11(11):797–805.
13. Rossi M., Labalme A., Cordier M.P. et al. Mosaic 18q21.2 deletions including the TCF4 gene: a clinical report. Am J Med Genet A 2012;158A(12):3174–81. DOI: 10.1002/ajmg.a.35588.
14. Stavropoulos D.J., MacGregor D.L., Yoon G. Mosaic microdeletion 18q21 as a cause of mental retardation. Eur J Med Genet 2010;53(6):396–9. DOI: 10.1016/j.ejmg.2010.08.005.
15. Steinbusch C.V., van Roozendaal K.E., Tserpelis D. et al. Somatic mosaicism in a mother of two children with Pitt–Hopkins syndrome. Clin Genet 2013;83(1):73–7. DOI: 10.1111/j.1399-0004.2012.01857.x.
16. Sweatt J.D. Pitt–Hopkins syndrome: intellectual disability due to loss of TCF4-regulated gene transcription. Exp Mol Med 2013;45:e21.
17. Taddeucci G., Bonuccelli A., Mantellassi I. et al. Pitt–Hopkins syndrome: report of a case with a TCF4 gene mutation. Ital J Pediatr 2010;36:12. DOI: 10.1186/1824-7288-36-12.
18. Takano K., Lyons M., Moyes C. et al. Two percent of patients suspected of having Angelman syndrome have TCF4 mutations. Clin Genet 2010;78(3):282–8. DOI: 10.1111/j.1399-0004.2010.01380.x.
19. Takenouchi T., Yagihashi T., Tsuchiya H. et al. Tissue-limited ring chromosome 18 mosaicism as a cause of Pitt–Hopkins syndrome. Am J Med Genet A 2012;158A(10):2621–3. DOI: 10.1002/ajmg.a.35230.
20. Van Balkom I.D., Vuijk P.J., Franssens M. et al. Development, cognition, and behaviour in Pitt–Hopkins syndrome. Dev Med Child Neurol 2012;54(10):925–31. DOI: 10.1111/j.1469-8749.2012.04339.x.
21. Whalen S., Heron D., Gaillon T. et al. Novel comprehensive diagnostic strategy in Pitt–Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum. Hum Mutat 2012;33(1):64–72. DOI: 10.1002/humu.21639.
22. Zweier C., Peippo M.M., Hoyer J. et al. Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt–Hopkins syndrome). Am J Hum Genet 2007;80(5):994–1001. DOI: 10.1086/515583.
Review
For citations:
Lyukshina N.G. Pitt–Hopkins syndrome with electrical status epilepticus in slow-wave sleep: a case report. Russian Journal of Child Neurology. 2019;14(2):42-48. (In Russ.) https://doi.org/10.17650/2073-8803-2019-14-2-42-48
Views:
4886
Email this article 