PHELAN–MCDERMID SYNDROM (del 22q13 AND r(22)): LITERATURE REVIEW AND 2 CASE REPORTS
https://doi.org/10.17650/2073-8803-2016-11-4-33-44
Abstract
Phelan–McDermid syndrome (PMS) is a microdeletion syndrome associated with the loss of terminal segments in chromosome 22, sometimes with development of the ring chromosome 22. Clinical manifestations of PMS include epilepsy and mental disorders (autism, mental deficiency, lack of expressive speech, sleep disorders, mood disorders since adolescence). Neurologic status is characterized by diffuse muscle hypotonia since birth, delayed development of motor skills, functional gastrointestinal disorder. Children over 1 year develop autism spectrum disorders; they have a specific awkward gait with frequent falls and decreased sensitivity to pain. Severe delay in the development of verbal intelligence (when expressive speech is absent or represented by individual words) are typical for these patients. Epileptiform activity appearing in a form of benign epileptiform discharges of childhood is usually diagnosed in all PMS patients; epileptic seizures are documented in half of the cases. The disease is characterized by secondarily generalized, age-related epileptic seizures with oral-pharyngeal manifestations. In some cases epilepsy becomes drug-resistant. Current article describes 2 clinical cases of PMS.
About the Authors
M. Yu. Bobylova
Svt. Luka’s Institute of Child Neurology and Epilepsy
Russian Federation
6 Svetlaya St., Puchkovo Village, Pervomayskoe Settlement, Moscow 143397
Russian Federation
6 Svetlaya St., Puchkovo Village, Pervomayskoe Settlement, Moscow 143397
M. A. Nikitina
Svt. Luka’s Institute of Child Neurology and Epilepsy
Russian Federation
6 Svetlaya St., Puchkovo Village, Pervomayskoe Settlement, Moscow 143397
Russian Federation
6 Svetlaya St., Puchkovo Village, Pervomayskoe Settlement, Moscow 143397
K. Yu. Mukhin
Svt. Luka’s Institute of Child Neurology and Epilepsy
Russian Federation
6 Svetlaya St., Puchkovo Village, Pervomayskoe Settlement, Moscow 143397
Russian Federation
6 Svetlaya St., Puchkovo Village, Pervomayskoe Settlement, Moscow 143397
A. V. Kulikov
Mental Health Research Center
Russian Federation
34 Kashirskoe shosse, Moscow 115522
Russian Federation
34 Kashirskoe shosse, Moscow 115522
References
1. Мухин К.Ю., Петрухин А.С., Холин А.А. Эпилептические энцефалопатии и схожие синдромы у детей. М.: АртСервис Лтд, 2011. С. 390–426. [Mukhin K.Yu., Petrukhin A.S., Kholin A.A. Epileptic encephalopathies and similar syndromes in children. Moscow: ArtService Ltd, 2011. Pp. 390–426. (In Russ.)].
2. Соловьева Н.В., Кицул Н.С. Роль генетических исследований при лечении аутизма. Синдром Фелан–МакДермид: история Саши. Аутизм и нарушения развития 2016;14(2):13–9. [Solov’eva N.V., Kitsul N.S. The role of genetic research in autism treatment. Phelan–McDermid syndrome: Sasha’s story. Autism i narusheniya razvitiya = Journal of Autism and Developmental Disorders 2016;14(2):13–9. (In Russ.)]. DOI: 10.17759/autdd.2016140202.
3. Delcán J., Orera M., Linares R. et al. A case of ring chromosome 22 with deletion of the 22q13.3 region associated with agenesis of the corpus callosum, fornix and septum pellucidum. Prenat Diagn 2004;24(8):635–7.
4. Denayer E., Brems H., de Cock P. et al. Pathogenesis of vestibular schwannoma in ring chromosome 22. BMC Medical Genetics 2009;10:97.
5. Eun Hae Cho, Jae Bok Park, Jin Kyung Kim. Atypical teratoid rhabdoid brain tumor in an infant with ring chromosome 22. Korean J Pediatr 2014;57(7):333–6.
6. Figura M.G., Coppola A., Bottitta M. et al. Seizures and EEG pattern in the 22q13.3 deletion syndrome: clinical report of six Italian cases. Seizure 2014;23(9):774–9. DOI: 10.1016/j.seizure.2014.06.008.
7. Ishikawa N., Kobayashi Y., Fujii Y. et al. Late-onset epileptic spasms in a patient with 22q13.3 deletion syndrome. Brain Dev 2016;38(1):109–12. DOI: 10.1016/j.braindev.2015.06.002.
8. Ishmael H.A., Cataldi D., Begleiter M.L. et al. Five new subjects with ring chromosome 22. Clin Genet 2003;63(5): 410–4.
9. Jeffries A.R., Curran S., Elmslie F. et al. Molecular and phenotypic characterization of ring chromosome 22. Am J Med Genet A 2005;137:139–47.
10. Kehrer-Sawatzki H., Udart M., Krone W. et al. Mutational analysis and expression studies of the neurofibromatosis type 2 (NF2) gene in a patient with a ring chromosome 22 and NF2. Hum Genet 1997;100(1):67–74.
11. MacLean J.E., Teshima I.E., Szatmari P., Nowaczyk M.J. Ring chromosome 22 and autism: report and review. Am J Med Genet 2000;90:382–5.
12. Nair-Miranda K., Murch A., Petterson B. et al. An investigation into sub-telomeric deletions of chromosome 22 and pervasive developmental disorders. Am J Med Genet B: Neuropsychiatric Genet 2004;125B: 99–104.
13. Online Mendelian Inheritance in Man (OMIM) – an online catalog of human genes and genetic disorders. URL: http://omim.org/entry/606232 (last access date: 25.01.2017).
14. Rubio A. 4 year old girl with ring chromosome 22 and brain tumor. Brain Pathol 1997;7(3):1027–8.
15. Soorya L., Kolevzon A., Zweifach J. et al. Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency. Mol Autism 2013;4(1):18. DOI: 10.1186/2040-2392-4-18.
16. Teive H.A., Munhoz R.P., Arruda W.O. et al. Spinocerebellar ataxia type 10 – a review. Parkinsonism Relat Disord 2011;17(9):655–61. DOI: 10.1016/j.parkreldis.2011.04.001.
17. Zirn B., Arning L., Bartels I. et al. Ring chromosome 22 and neurofibromatosis type II: proof of two-hit model for the loss of the NF2 gene in the development of meningioma. Clin Genet 2012;81(1):82–7. DOI: 10.1111/j.1399-0004.2010.01598.x.
Review
For citations:
Bobylova M.Yu., Nikitina M.A., Mukhin K.Yu., Kulikov A.V. PHELAN–MCDERMID SYNDROM (del 22q13 AND r(22)): LITERATURE REVIEW AND 2 CASE REPORTS. Russian Journal of Child Neurology. 2016;11(4):33-44. (In Russ.) https://doi.org/10.17650/2073-8803-2016-11-4-33-44
Views:
14149
Email this article 