r-n-jРоссийский неврологический журналRussian neurological journal2658-79472686-7192МИА10.30629/2658-7947-2022-27-5-73-77r-n-j-363Research ArticleИССЛЕДОВАНИЯ И КЛИНИЧЕСКИЕ НАБЛЮДЕНИЯCLINICAL RESEARCHES AND CASE REPORTSСиндром Вольфа–ХиршхорнаWolf–Hirshhorn syndromehttps://orcid.org/0000-0001-8469-1635НовиковаЛ. Б.NovikovaL. B.

 Уфа 

 Ufa 

https://orcid.org/0000-0001-8436-5610АкопянА. П.AkopyanA. P.

 Уфа 

 Ufa 

https://orcid.org/0000-0002-8552-6233ШараповаК. М.SharapovaK. M.

 Уфа 

 Ufa 

sharapovakarina.2020@gmail.comhttps://orcid.org/0000-0001-7231-8534ЛатыповаР. Ф.LatypovaR. F.

 Уфа 

Ufa

https://orcid.org/0000-0001-6152-3460ФайзуллинаН. М.FaizullinaN. M.

 Уфа 

Ufa

ФГБОУ ВО «Башкирский государственный медицинский университет»РоссияBashkir State Medical UniversityRussian Federation2022241120222757377Copyright © Новикова Л.Б., Акопян А.П., Шарапова К.М., Латыпова Р.Ф., Файзуллина Н.М., 20222022Новикова Л.Б., Акопян А.П., Шарапова К.М., Латыпова Р.Ф., Файзуллина Н.М.Novikova L.B., Akopyan A.P., Sharapova K.M., Latypova R.F., Faizullina N.M.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.r-n-j.com/jour/article/view/363

Синдром Вольфа–Хиршхорна — редкое генетическое заболевание, связанное с хромосомной аберрацией 4-й хромосомы. Особенностью заболевания являются характерный внешний вид лица, аномалии развития внутренних органов и скелета, нарушения в двигательной, когнитивной и психоречевой сфере, судорожный синдром. Представлено описание случая синдрома Вольфа–Хиршхорна у ребенка 5 лет 11 мес., находившегося на лечении в неврологическом отделении Детского центра психоневрологии и эпилептологии ГБУЗ Республиканской детской клинической больницы г. Уфы. Заболевание проявлялось эпилепсией, задержкой психомоторного развития, алалией. Определялись множественные стигмы дизэмбриогенеза.

Wolff–Hirschhorn syndrome is a rare genetic disease associated with a chromosomal aberration of chromosome 4. A feature of the disease is the characteristic appearance of the face, anomalies in the development of internal organs and the skeleton, disorders in the motor, cognitive and psychospeech sphere, convulsive syndrome. Clinical observation presents a description of a 5-year-old 11-month-old child with a rare hereditary pathology — Wolff–Hirschhorn syndrome, who was treated in the neurological department of the Children’s Center for Psychoneurology and Epileptology of the Republican Children’s Clinical Hospital in Ufa. The disease was manifested by epilepsy, psychomotor retardation, and alalia. Multiple stigmas of dysembryogenesis were determined.

хромосомаделециястигмы дизэмбриогенезаэпилепсияchromosomedeletiondysembryogenesis stigmasepilepsyReferencesCooper H., Hirschorn K. Apparent deletion of shot arms of one chromosome (4 or 5) in a child with defects of midline fusion. Mammalian ChromNwsl. 1961;4:14.Cooper H., Hirschorn K. Apparent deletion of shot arms of one chromosome (4 or 5) in a child with defects of midline fusion. Mammalian ChromNwsl. 1961;4:14.Hirschhorn K., Cooper H.L., Firschein I.L. Deletion of short arms of chromosome 4–5 in a child with defects of midline fusion. Humangenetik. 1965;1(5):479–82. https://doi.org/10.1007/BF00279124Hirschhorn K., Cooper H.L., Firschein I.L. Deletion of short arms of chromosome 4–5 in a child with defects of midline fusion. Humangenetik. 1965;1(5):479–82. https://doi.org/10.1007/BF00279124Mekkawy M.K., Kamel A.K., Thomas M.M., Ashaat E.A., Zaki M.S., Eid O.M. et al. Clinical and genetic characterization of ten Egyptian patients with Wolf–Hirschhorn syndrome and review of literature. Mol Genet Genomic Med. 2021;9(2):e1546. https://doi.org/10.1002/mgg3.1546Mekkawy M.K., Kamel A.K., Thomas M.M., Ashaat E.A., Zaki M.S., Eid O.M. et al. Clinical and genetic characterization of ten Egyptian patients with Wolf–Hirschhorn syndrome and review of literature. Mol Genet Genomic Med. 2021;9(2):e1546. https://doi.org/10.1002/mgg3.1546Gavril E.C., Luca A.C., Curpan A.S., Popescu R., Resmerita I., Panzaru M.C. et al. Wolf–Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review. Children (Basel). 2021;8(9):751. https://doi.org/10.3390/children8090751Gavril E.C., Luca A.C., Curpan A.S., Popescu R., Resmerita I., Panzaru M.C. et al. Wolf–Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review. Children (Basel). 2021;8(9):751. https://doi.org/10.3390/children8090751Chaudhry C., Kaur A., Panigrahi I., Kaur A. Wolf–Hirschhorn syndrome: A case series from India. Am J Med Genet A. 2020;182(12):3048–3051. https://doi.org/10.1002/ajmg.a.61856Chaudhry C., Kaur A., Panigrahi I., Kaur A. Wolf–Hirschhorn syndrome: A case series from India. Am J Med Genet A. 2020;182(12):3048–3051. https://doi.org/10.1002/ajmg.a.61856Battaglia A., Guerrini R. Chromosomal disorders associated with epilepsy. Epileptic Disord. 2005;7(3):181–92.Battaglia A., Guerrini R. Chromosomal disorders associated with epilepsy. Epileptic Disord. 2005;7(3):181–92.Battaglia A., Carey J.C., Wright T.J. Wolf–Hirschhorn (4p-) syndrome. Adv Pediatr. 2001;48:75–113.Battaglia A., Carey J.C., Wright T.J. Wolf–Hirschhorn (4p-) syndrome. Adv Pediatr. 2001;48:75–113.Rjiba K., Ayech H., Kraiem O., Slimani W., Jelloul A., Ben Hadj Hmida I. et al. Disorders of sex development in Wolf–Hirschhorn syndrome: a genotype-phenotype correlation and MSX1 as candidate gene. Mol Cytogenet. 2021;14(1):12. https://doi.org/10.1186/s13039-021-00531-8Rjiba K., Ayech H., Kraiem O., Slimani W., Jelloul A., Ben Hadj Hmida I. et al. Disorders of sex development in Wolf–Hirschhorn syndrome: a genotype-phenotype correlation and MSX1 as candidate gene. Mol Cytogenet. 2021;14(1):12. https://doi.org/10.1186/s13039-021-00531-8Limeres J., Serrano C., De Nova J.M., Silvestre-Rangil J., Machuca G., Maura I. et al. Oral Manifestations of Wolf–Hirschhorn Syndrome: Genotype-Phenotype Correlation Analysis. J Clin Med. 2020;9(11):3556. https://doi.org/10.3390/jcm9113556Limeres J., Serrano C., De Nova J.M., Silvestre-Rangil J., Machuca G., Maura I. et al. Oral Manifestations of Wolf–Hirschhorn Syndrome: Genotype-Phenotype Correlation Analysis. J Clin Med. 2020;9(11):3556. https://doi.org/10.3390/jcm9113556Zollino M., Murdolo M., Marangi G., Pecile V., Galasso C., Mazzanti L., Neri G. On the nosology and pathogenesis of Wolf–Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review. Am J Med Genet C Semin Med Genet. 2008;148C(4):257–69. https://doi.org/10.1002/ajmg.c.30190Zollino M., Murdolo M., Marangi G., Pecile V., Galasso C., Mazzanti L., Neri G. On the nosology and pathogenesis of Wolf–Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review. Am J Med Genet C Semin Med Genet. 2008;148C(4):257–69. https://doi.org/10.1002/ajmg.c.30190Yang W.X., Pan H., Li .L, Wu H.R., Wang S.T., Bao X.H. et al. Analyses of Genotypes and Phenotypes of Ten Chinese Patients with Wolf–Hirschhorn Syndrome by Multiplex Ligation-dependent Probe Amplification and Array Comparative Genomic Hybridization. Chin Med J (Engl). 2016;129(6):672–8. https://doi.org/10.4103/0366-6999.177996Yang W.X., Pan H., Li .L, Wu H.R., Wang S.T., Bao X.H. et al. Analyses of Genotypes and Phenotypes of Ten Chinese Patients with Wolf–Hirschhorn Syndrome by Multiplex Ligation-dependent Probe Amplification and Array Comparative Genomic Hybridization. Chin Med J (Engl). 2016;129(6):672–8. https://doi.org/10.4103/0366-6999.177996Estabrooks L.L., Lamb A.N., Aylsworth A.S., Callanan N.P., Rao K.W. Molecular characterisation of chromosome 4p deletions resulting in Wolf-Hirschhorn syndrome. J Med Genet. 1994;31(2):103–7. https://doi.org/10.1136/jmg.31.2.103Estabrooks L.L., Lamb A.N., Aylsworth A.S., Callanan N.P., Rao K.W. Molecular characterisation of chromosome 4p deletions resulting in Wolf-Hirschhorn syndrome. J Med Genet. 1994;31(2):103–7. https://doi.org/10.1136/jmg.31.2.103Mironov M.B., Chebanenko N.V., Aivazyan S.O., Vladimirova S.A., Osipova K.V., Burd S.G. et al. Epilepsy in Wolff–Hirschhorn syndrome: literature review and description of clinical cases. Epilepsy and paroxysmal conditions. 2018;10(4):039–052. (in Russ.)]. https://doi.org/10.17749/2077-8333.2018.10.4.039-052Mironov M.B., Chebanenko N.V., Aivazyan S.O., Vladimirova S.A., Osipova K.V., Burd S.G. et al. Epilepsy in Wolff–Hirschhorn syndrome: literature review and description of clinical cases. Epilepsy and paroxysmal conditions. 2018;10(4):039–052. (in Russ.)]. https://doi.org/10.17749/2077-8333.2018.10.4.039-052Sukarova-Angelovska E., Kocova M., Sabolich V., Palcevska S., Angelkova N. Phenotypic variations in Wolf–Hirschhorn syndrome. Balkan J Med Genet. 2014;17(1):23–30. https://doi.org/10.2478/bjmg-2014-0021Sukarova-Angelovska E., Kocova M., Sabolich V., Palcevska S., Angelkova N. Phenotypic variations in Wolf–Hirschhorn syndrome. Balkan J Med Genet. 2014;17(1):23–30. https://doi.org/10.2478/bjmg-2014-0021Ho K. S., Markham L.M., Twede H., Lortz A., Olson L.M., Sheng X. et al. A survey of antiepileptic drug responses identifies drugs with potential efficacy for seizure control in Wolf–Hirschhorn syndrome. Epilepsy Behav. 2018;81:55–61. https://doi.org/10.1016/j.yebeh.2017.12.008Ho K. S., Markham L.M., Twede H., Lortz A., Olson L.M., Sheng X. et al. A survey of antiepileptic drug responses identifies drugs with potential efficacy for seizure control in Wolf–Hirschhorn syndrome. Epilepsy Behav. 2018;81:55–61. https://doi.org/10.1016/j.yebeh.2017.12.008Blanco-Lago R., Malaga-Dieguez I., Granizo-Martinez J.J., Carrera Garcia L, Barruz-Galian P., Lapunzina P., NevadoBlanco J. En Representacion Del Grupo Colaborativo Para El Estudio Del Sindrome de Wolf–Hirschhorn ERDGCPEEDSW. Wolf–Hirschhorn syndrome. Description of a Spanish cohort of 51 cases and a literature review. Rev Neurol. 2017;64(9):393–400.Blanco-Lago R., Malaga-Dieguez I., Granizo-Martinez J.J., Carrera Garcia L, Barruz-Galian P., Lapunzina P., NevadoBlanco J. En Representacion Del Grupo Colaborativo Para El Estudio Del Sindrome de Wolf–Hirschhorn ERDGCPEEDSW. Wolf–Hirschhorn syndrome. Description of a Spanish cohort of 51 cases and a literature review. Rev Neurol. 2017;64(9):393–400.Lin M.F., Huang L.Y., Yang Y.D., Li D.Z. Prenatal diagnosis of Wolf–Hirschhorn syndrome at the first trimester using chromosomal microarray analysis. J Obstet Gynaecol. 2019;39(2):268–270. https://doi.org/10.1080/01443615.2018.1448765Lin M.F., Huang L.Y., Yang Y.D., Li D.Z. Prenatal diagnosis of Wolf–Hirschhorn syndrome at the first trimester using chromosomal microarray analysis. J Obstet Gynaecol. 2019;39(2):268–270. https://doi.org/10.1080/01443615.2018.1448765Chen C.P., Chen C.Y., Chern S.R., Wu P.S., Chen S.W., Lai S.T. et al. Prenatal diagnosis of a 1.6-Mb 4p16.3 interstitial microdeletion encompassing FGFRL1 and TACC3 associated with bilateral cleft lip and palate of Wolf–Hirschhorn syndrome facial dysmorphism and short long bones. Taiwan J Obstet Gynecol. 2017;56(6):821–826. https://doi.org/10.1016/j.tjog.2017.10.021Chen C.P., Chen C.Y., Chern S.R., Wu P.S., Chen S.W., Lai S.T. et al. Prenatal diagnosis of a 1.6-Mb 4p16.3 interstitial microdeletion encompassing FGFRL1 and TACC3 associated with bilateral cleft lip and palate of Wolf–Hirschhorn syndrome facial dysmorphism and short long bones. Taiwan J Obstet Gynecol. 2017;56(6):821–826. https://doi.org/10.1016/j.tjog.2017.10.021Righini A., Ciosci R., Selicorni A., Bianchini E., Parazzini C., Zollino M. et al. Brain Magnetic Resonance Imaging in Wolf–Hirschhorn Syndrome. Neuropediatrics. 2007;38(1):25–28. https://doi.org/10.1055/s-2007-981685Righini A., Ciosci R., Selicorni A., Bianchini E., Parazzini C., Zollino M. et al. Brain Magnetic Resonance Imaging in Wolf–Hirschhorn Syndrome. Neuropediatrics. 2007;38(1):25–28. https://doi.org/10.1055/s-2007-981685Battaglia A., Lortz A., Carey J.C. Natural history study of adults with Wolf–Hirschhorn syndrome 1: Case series of personally observed 35 individuals. Am J Med Genet A. 2021;185(6):1794–1802. https://doi.org/10.1002/ajmg.a.62176Battaglia A., Lortz A., Carey J.C. Natural history study of adults with Wolf–Hirschhorn syndrome 1: Case series of personally observed 35 individuals. Am J Med Genet A. 2021;185(6):1794–1802. https://doi.org/10.1002/ajmg.a.62176Berrocoso S., Amayra I., Lázaro E., Martínez O., López-Paz J.F., García M. et al. Coping with Wolf–Hirschhorn syndrome: quality of life and psychosocial features of family carers. Orphanet J Rare Dis. 2020;15(1):293. https://doi.org/10.1186/s13023-020-01476-8Berrocoso S., Amayra I., Lázaro E., Martínez O., López-Paz J.F., García M. et al. Coping with Wolf–Hirschhorn syndrome: quality of life and psychosocial features of family carers. Orphanet J Rare Dis. 2020;15(1):293. https://doi.org/10.1186/s13023-020-01476-8

The authors declare that there are no conflicts of interest present.