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Агенезия мозолистого тела в сочетании с церебральными аномалиями: клинико-диагностические особенности
Агенезия мозолистого тела в сочетании с церебральными аномалиями: клинико-диагностические особенности
Огнерубов Н.А., Антипова Т.С., Мирсалимова О.О., Земур М.А. Агенезия мозолистого тела в сочетании с церебральными аномалиями: клинико-диагностические особенности. Consilium Medicum.
2024;26(11):767–775. DOI: 10.26442/20751753.2024.11.203032
© ООО «КОНСИЛИУМ МЕДИКУМ», 2024 г.
DOI: 10.26442/20751753.2024.11.203032
2024;26(11):767–775. DOI: 10.26442/20751753.2024.11.203032
© ООО «КОНСИЛИУМ МЕДИКУМ», 2024 г.
________________________________________________
DOI: 10.26442/20751753.2024.11.203032
Материалы доступны только для специалистов сферы здравоохранения. Авторизуйтесь или зарегистрируйтесь.
Аннотация
Обоснование. Агенезия мозолистого тела (АМТ) – полное или частичное отсутствие МТ, которое является одним из наиболее распространенных врожденных пороков развития головного мозга (ГМ) с частотой встречаемости 1,4 случая на 10 тыс. живорождений.
Цель. Представить клинические и диагностические особенности 4 пациентов с АМТ.
Материалы и методы. Под наблюдением находились 4 пациента с АМТ в возрасте 11, 12, 13 и 50 лет, из них 3 – лица мужского пола, 1 – девочка 13 лет. Всем больным проведены неврологическое обследование с оценкой когнитивных, психических расстройств и электроэнцефалография. Для выявления повреждений анатомической структуры ГМ пациентам выполнена магнитно-резонансная томография (МРТ) в стандартных режимах. С этой целью применяли магнитно-резонансный томограф с напряженностью магнитного поля 1,5 Тл.
Результаты. У 2 пациентов – мужчины 50 лет и мальчика 12 лет – заболевание протекало бессимптомно. В других 2 случаях имелся явный неврологический и когнитивный дефицит. У мальчика 11 лет родители, бабушка и дедушка умерли от хронического алкоголизма. При неврологическом обследовании у него выявлены признаки поражения пирамидного пути, а также выраженные когнитивные нарушения в виде глубокой умственной отсталости, включая задержку психоречевого развития. Девочка 13 лет страдает тяжелой умственной отсталостью с нарушением речи. В обоих случаях АМТ ассоциировалась с эпилепсией с частотой приступов от 6 раз в год у девочки и до 15 раз в месяц у мальчика. Наличие грубого неврологического и когнитивного дефицита представляет социальные трудности, поскольку такие пациенты нуждаются в реабилитации и постоянном уходе. Во всех случаях диагноз АМТ поставлен по результатам МРТ ГМ, которая является методом выбора. МРТ позволяет оценить анатомическую структуру МТ и наличие других аномалий ГМ. Полная агенезия установлена в 3 случаях, включая девочку, а у 1 пациента – мальчика 12 лет – выявлена частичная агенезия с сохранением валика. У всех больных агенезия сочеталась с врожденными пороками развития ГМ, а именно с отсутствием прозрачной перегородки, межполушарной и порэнцефалической кистой, платибазией и венозной мальформацией лобной доли.
Заключение. АМТ является редкой врожденной аномалией развития ГМ. Согласно полученным данным агенезия преобладает у лиц мужского пола. Полная АМТ диагностирована у 3 пациентов, частичная – у 1. К факторам риска следует отнести употребление алкоголя матерью во время беременности. Клиническая картина является разнообразной: от бессимптомного течения до выраженных когнитивных нарушений в виде тяжелой и глубокой умственной отсталости, эпилепсии и аутистических расстройств с неврологическим дефицитом, включая поражение пирамидного пути. Основным методом диагностики является МРТ, которая позволяет выявить анатомические изменения МТ и других структур ГМ.
Ключевые слова: церебральные аномалии, сочетание, агенезия мозолистого тела, клиника, диагностика, магнитно-резонансная томография
Aim. To describe the clinical and diagnostic features of 4 patients with ACC.
Materials and methods. Four patients with ACC aged 11, 12, 13, and 50 years were managed, of whom 3 were males, and 1 was a 13-year-old girl. All patients underwent a neurological examination, which assessed cognitive and mental disorders and electroencephalography. Patients underwent magnetic resonance imaging (MRI) in standard modes using a magnetic resonance imaging scanner with a magnetic field intensity of 1.5 T to detect damage to the brain's anatomical structure.
Results. The disease was asymptomatic in 2 patients (a 50-year-old man and a 12-year-old boy). In the other 2 cases, there was an apparent neurological and cognitive deficit. The boy's parents and grandparents died of chronic alcoholism at the age of 11. During a neurological examination, he showed signs of damage to the pyramidal tract, as well as pronounced cognitive impairment with profound mental retardation, including delayed psycho-speech development. The 13-year-old girl suffers from severe mental retardation with speech impairment. In both cases, ACC was associated with epilepsy with a seizure frequency ranging from 6 times a year in the girl and up to 15 times a month in the boy. The gross neurological and cognitive deficits cause social difficulties since such patients need rehabilitation and ongoing care. In all cases, the diagnosis of ACC is based on the results of brain MRI, which is the method of choice. MRI enables assessment of the CC anatomical structure and the presence of other brain abnormalities. Complete agenesis was established in 3 cases, including a girl, and in one patient – a 12-year-old boy – partial agenesis with intact splenium was detected. In all patients, agenesis was combined with brain congenital malformations, namely with the absence of the septum pellucidum, interhemispheric and porencephalic cyst, basilar invagination, and venous malformation of the frontal lobe.
Conclusion. ACC is a rare congenital brain malformation. According to the data, agenesis is more common in males. Complete ACC was diagnosed in 3 patients and partial ACC in 1. Risk factors include maternal alcohol consumption during pregnancy. The clinical presentation is diverse: from an asymptomatic course to severe cognitive impairment with severe and profound mental retardation, epilepsy, and autistic disorders with neurological deficits, including damage to the pyramidal tract. The primary diagnostic method is MRI, which detects anatomical changes in CC and other brain structures.
Keywords: cerebral anomalies, combination, agenesis of the corpus callosum, clinical presentation, diagnosis, magnetic resonance imaging
Цель. Представить клинические и диагностические особенности 4 пациентов с АМТ.
Материалы и методы. Под наблюдением находились 4 пациента с АМТ в возрасте 11, 12, 13 и 50 лет, из них 3 – лица мужского пола, 1 – девочка 13 лет. Всем больным проведены неврологическое обследование с оценкой когнитивных, психических расстройств и электроэнцефалография. Для выявления повреждений анатомической структуры ГМ пациентам выполнена магнитно-резонансная томография (МРТ) в стандартных режимах. С этой целью применяли магнитно-резонансный томограф с напряженностью магнитного поля 1,5 Тл.
Результаты. У 2 пациентов – мужчины 50 лет и мальчика 12 лет – заболевание протекало бессимптомно. В других 2 случаях имелся явный неврологический и когнитивный дефицит. У мальчика 11 лет родители, бабушка и дедушка умерли от хронического алкоголизма. При неврологическом обследовании у него выявлены признаки поражения пирамидного пути, а также выраженные когнитивные нарушения в виде глубокой умственной отсталости, включая задержку психоречевого развития. Девочка 13 лет страдает тяжелой умственной отсталостью с нарушением речи. В обоих случаях АМТ ассоциировалась с эпилепсией с частотой приступов от 6 раз в год у девочки и до 15 раз в месяц у мальчика. Наличие грубого неврологического и когнитивного дефицита представляет социальные трудности, поскольку такие пациенты нуждаются в реабилитации и постоянном уходе. Во всех случаях диагноз АМТ поставлен по результатам МРТ ГМ, которая является методом выбора. МРТ позволяет оценить анатомическую структуру МТ и наличие других аномалий ГМ. Полная агенезия установлена в 3 случаях, включая девочку, а у 1 пациента – мальчика 12 лет – выявлена частичная агенезия с сохранением валика. У всех больных агенезия сочеталась с врожденными пороками развития ГМ, а именно с отсутствием прозрачной перегородки, межполушарной и порэнцефалической кистой, платибазией и венозной мальформацией лобной доли.
Заключение. АМТ является редкой врожденной аномалией развития ГМ. Согласно полученным данным агенезия преобладает у лиц мужского пола. Полная АМТ диагностирована у 3 пациентов, частичная – у 1. К факторам риска следует отнести употребление алкоголя матерью во время беременности. Клиническая картина является разнообразной: от бессимптомного течения до выраженных когнитивных нарушений в виде тяжелой и глубокой умственной отсталости, эпилепсии и аутистических расстройств с неврологическим дефицитом, включая поражение пирамидного пути. Основным методом диагностики является МРТ, которая позволяет выявить анатомические изменения МТ и других структур ГМ.
Ключевые слова: церебральные аномалии, сочетание, агенезия мозолистого тела, клиника, диагностика, магнитно-резонансная томография
________________________________________________
Aim. To describe the clinical and diagnostic features of 4 patients with ACC.
Materials and methods. Four patients with ACC aged 11, 12, 13, and 50 years were managed, of whom 3 were males, and 1 was a 13-year-old girl. All patients underwent a neurological examination, which assessed cognitive and mental disorders and electroencephalography. Patients underwent magnetic resonance imaging (MRI) in standard modes using a magnetic resonance imaging scanner with a magnetic field intensity of 1.5 T to detect damage to the brain's anatomical structure.
Results. The disease was asymptomatic in 2 patients (a 50-year-old man and a 12-year-old boy). In the other 2 cases, there was an apparent neurological and cognitive deficit. The boy's parents and grandparents died of chronic alcoholism at the age of 11. During a neurological examination, he showed signs of damage to the pyramidal tract, as well as pronounced cognitive impairment with profound mental retardation, including delayed psycho-speech development. The 13-year-old girl suffers from severe mental retardation with speech impairment. In both cases, ACC was associated with epilepsy with a seizure frequency ranging from 6 times a year in the girl and up to 15 times a month in the boy. The gross neurological and cognitive deficits cause social difficulties since such patients need rehabilitation and ongoing care. In all cases, the diagnosis of ACC is based on the results of brain MRI, which is the method of choice. MRI enables assessment of the CC anatomical structure and the presence of other brain abnormalities. Complete agenesis was established in 3 cases, including a girl, and in one patient – a 12-year-old boy – partial agenesis with intact splenium was detected. In all patients, agenesis was combined with brain congenital malformations, namely with the absence of the septum pellucidum, interhemispheric and porencephalic cyst, basilar invagination, and venous malformation of the frontal lobe.
Conclusion. ACC is a rare congenital brain malformation. According to the data, agenesis is more common in males. Complete ACC was diagnosed in 3 patients and partial ACC in 1. Risk factors include maternal alcohol consumption during pregnancy. The clinical presentation is diverse: from an asymptomatic course to severe cognitive impairment with severe and profound mental retardation, epilepsy, and autistic disorders with neurological deficits, including damage to the pyramidal tract. The primary diagnostic method is MRI, which detects anatomical changes in CC and other brain structures.
Keywords: cerebral anomalies, combination, agenesis of the corpus callosum, clinical presentation, diagnosis, magnetic resonance imaging
Полный текст
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47. Falchek SJ, duPont AI. Malformed Cerebral Hemispheres. Reviewed/Revised. Available at: https://www.msdmanuals.com/professional/pediatrics/congenital-neurologic-anomalies/malformed-cerebra.... Accessed: 18.10.2024.
48. Dong X, Bai C, Nao J. Clinical and radiological features of Marchiafava-Bignami disease. Medicine (Baltimore). 2018;97(5):e9626. DOI:10.1097/MD.0000000000009626
49. Paul LK, Brown WS, Adolphs R, et al. Agenesis of the corpus callosum: genetic, developmental and functional aspects of connectivity. Nat Rev Neurosci. 2007;8(4):287-99. DOI:10.1038/nrn2107
50. Sztriha L. Spectrum of corpus callosum agenesis. Pediatr Neurol. 2005;32(2):94-101. DOI:10.1016/j.pediatrneurol.2004.09.007
51. Neupane H, Adhikari S, Dhungana S. Complete agenesis of the corpus callosum in paranoid schizophrenia-a case report. Clin Case Rep. 2021;9(10):e04911. DOI:10.1002/ccr3.4911
52. Santo S, D'Antonio F, Homfray T, et al. Counseling in fetal medicine: agenesis of the corpus callosum. Ultrasound Obstet Gynecol. 2012;40(5):513-21. DOI:10.1002/uog.12315
53. Manor C, Rangasami R, Suresh I, Suresh S. Magnetic Resonance Imaging Findings in Fetal Corpus Callosal Developmental Abnormalities: A Pictorial Essay. J Pediatr Neurosci. 2020;15(4):352-5. DOI:10.4103/jpn.JPN_174_19
54. Palmer EE, Mowat D. Agenesis of the corpus callosum: a clinical approach to diagnosis. Am J Med Genet C Semin Med Genet. 2014;166C(2):184-97. DOI:10.1002/ajmg.c.31405
2. Milovanova OA, Tarakanova TYu, Pronicheva YuB, et al. Agenesis of the corpus callosum associated with hereditary syndromes. Annals of Clinical and Experimental Neurology. 2017;10(2):62-7 (in Russian).
3. Schell-Apacik CC, Wagner K, Bihler M, et al. Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients. Am J Med Genet A. 2008;146A(19):2501-11. DOI:10.1002/ajmg.a.32476
4. Jeret JS, Serur D, Wisniewski K, Fisch C. Frequency of agenesis of the corpus callosum in the developmentally disabled population as determined by computerized tomography. Pediatr Neurosci. 1985;12(2):101-3. DOI:10.1159/000120229
5. Grogono JL. Children with agenesis of the corpus callosum. Dev Med Child Neurol. 1968;10(5):613-6. DOI:10.1111/j.1469-8749.1968.tb02944.x
6. Kumar P, Burton B. Congenital Malformations: Evidence-Based Evaluation and Management. 2007.
7. De León Reyes NS, Bragg-Gonzalo L, Nieto M. Development and plasticity of the corpus callosum. Development. 2020;147(18):dev189738. DOI:10.1242/dev.189738
8. Popoola O, Olayinka O, Azizi H, et al. Neuropsychiatric Manifestations of Partial Agenesis of the Corpus Callosum: A Case Report and Literature Review. Case Rep Psychiatry. 2019;2019:5925191. DOI:10.1155/2019/5925191
9. Nagwa S, Saran S, Sharma Y, Kharbanda A. Imaging features of complete agenesis of corpus callosum in a 3-year-old child. Sudan J Paediatr. 2018;18(2):69-71. DOI:10.24911/SJP.106-1523336915
10. Gaillard F, Walizai T, Campos A, et al. Dysgenesis of the corpus callosum. Reference article. Radiopaedia.org. DOI:10.53347/rID-864. Accessed: 18.10.2024.
11. Smith CJ, Smith ZG, Rasool H, et al. Unravelling the Clinical Co-Morbidity and Risk Factors Associated with Agenesis of the Corpus Callosum. J Clin Med. 2023;12:3623. DOI:10.3390/jcm12113623
12. Kier EL, Truwit CL. The normal and abnormal genu of the corpus callosum: an evolutionary, embryologic, anatomic, and MR analysis. AJNR Am J Neuroradiol. 1996;17(9):1631-41.
13. Das JM, Geetha R. Corpus Callosum Agenesis. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing. Available at: https://www.ncbi.nlm.nih.gov/books/NBK540986. Accessed: 18.10.2024.
14. Mahmoud Q. Agenesis of the corpus callosum with interhemispheric cyst. Case study. Radiopaedia.org. DOI:10.53347/rID-171818. Accessed: 18.10.2024.
15. Barkovich AJ, Simon EM, Walsh CA. Callosal agenesis with cyst: a better understanding and new classification. Neurology. 2001;56(2):220-7. DOI:10.1212/wnl.56.2.220
16. Ho M, Walizai T, Campos A, et al. Porencephaly. Reference article. Radiopaedia.org. DOI:10.53347/rID-7281. Accessed: 18.10.2024.
17. Marathu KK, Vahedifard F, Kocak M, et al. Fetal MRI Analysis of Corpus Callosal Abnormalities: Classification, and Associated Anomalies. Diagnostics (Basel). 2024;14(4). DOI:10.3390/diagnostics14040430
18. Aminoff MDzh, Grinberg DA, Saimon RP. Klinicheskaia nevrologiia. Moscow: MEDpress-inform, 2009 (in Russian).
19. Sowell ER, Mattson SN, Thompson PM, et al. Mapping callosal morphology and cognitive correlates: effects of heavy prenatal alcohol exposure. Neurology.
2001;57(2):235-44. DOI:10.1212/wnl.57.2.235
20. Tang PH, Bartha AI, Norton ME, et al. Agenesis of the corpus callosum: an MR imaging analysis of associated abnormalities in the fetus. AJNR Am J Neuroradiol. 2009;30(2):257-63. DOI:10.3174/ajnr.A1331
21. Stevenson RE, Hall JG. Human Malformations and Related Anomalies. NY: Oxford University Press, 2006.
22. Morris JK, Wellesley DG, Barisic I, et al. Epidemiology of congenital cerebral anomalies in Europe: a multicentre, population-based EUROCAT study. Arc Dis Child.
2019;104(12):1181-7. DOI:10.1136/archdischild-2018-316733
23. Brown WS, Paul LK. The Neuropsychological Syndrome of Agenesis of the Corpus Callosum. J Int Neuropsychol Soc. 2019;25(3):324-30. DOI:10.1017/S135561771800111X
24. Mitchell TN, Free SL, Williamson KA, et al. Polymicrogyria and absence of pineal gland due to PAX6 mutation. Ann Neurol. 2003;53(5):658-3. DOI:10.1002/ana.10576
25. Milovanova OA, Tarakanova TYu, Pronicheva YuB, et al. Agenesis of the corpus callosum associated with hereditary syndromes. Annals of Clinical and Experimental Neurology. 2017;11(2):62-7 (in Russian).
26. Ghavipisheh M, Jahromi LR, Ahrari I, Jahromi MG. Complete agenesis of corpus callosum with a rare neuropsychiatric presentation: A case report. Radiol Case Rep.
2023;18(4):1442-45. DOI:10.1016/j.radcr.2023.01.031
27. Guadarrama-Ortiz P, Choreño-Parra JA, de la Rosa-Arredondo T. Isolated agenesis of the corpus callosum and normal general intelligence development during postnatal life: a case report and review of the literature. J Med Case Rep. 2020;14(1):28. DOI:10.1186/s13256-020-2359-2
28. Bhattacharyya R, Sanyal D, Chakraborty S, Bhattacharyya S. A case of corpus callosum agenesis presenting with recurrent brief depression. Indian J Psychol Med.
2009;31(2):92-5. DOI:10.4103/0253-7176.63580
29. Doherty D, Tu S, Schilmoeller K, Schilmoeller G. Health-related issues in individuals with agenesis of the corpus callosum. Child Care Health Dev.
2006;32(3):333-42. DOI:10.1111/j.1365-2214.2006.00602.x
30. Des Portes V, Rolland A, Velazquez-Dominguez J, et al. Outcome of isolated agenesis of the corpus callosum: A population-based prospective study. Eur J Paediatr Neurol. 2018;22(1):82-92. DOI:10.1016/j.ejpn.2017.08.003
31. Hanna RM, Marsh SE, Swistun D, et al. Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families. Neurology. 2011;76(4):373-82. DOI:10.1212/WNL.0b013e318208f492
32. Neal JB, Filippi CG, Mayeux R. Morphometric variability of neuroimaging features in children with agenesis of the corpus callosum. BMC Neurol. 2015;15:116.
DOI:10.1186/s12883-015-0382-5
33. Severino M, Tortora D, Reid C, et al. Imaging characteristics and neurosurgical outcome in subjects with agenesis of the corpus callosum and interhemispheric cysts. Neuroradiology. 2022;64(11):2163-17. DOI:10.1007/s00234-022-02990-1
34. Cherian EV, Shenoy KV, Bukelo MJ, Thomas DA. Racing car brings tear drops in the moose. BMJ Case Rep. 2013;2013. DOI:10.1136/bcr-2012-008165
35. Shwe WH, Schlatterer SD, Williams J, et al. Outcome of Agenesis of the Corpus Callosum Diagnosed by Fetal MRI. Pediatr Neurol. 2022;135:44-51. DOI:10.1016/j.pediatrneurol.2022.07.007
36. Nikogosova AK, Rostovtseva TM, Beregov MM, et al. Magnetic resonance tractogtaphy: possibilities and limitations, modern approach to data processing. Medical Visualization. 2022;26(3):132-48 (in Russian). DOI:10.24835/1607-0763-1064
37. David AS, Wacharasindhu A, Lishman WA. Severe psychiatric disturbance and abnormalities of the corpus callosum: review and case series. J Neurol Neurosurg Psychiatry. 1993;56(1):85-93. DOI:10.1136/jnnp.56.1.85
38. Bedeschi MF, Bonaglia MC, Grasso R, et al. Agenesis of the corpus callosum: clinical and genetic study in 63 young patients. Pediatr Neurol. 2006;34(3):186-93. DOI:10.1016/j.pediatrneurol.2005.08.008
39. Moutard ML, Kieffer V, Feingold J, et al. Isolated corpus callosum agenesis: a ten-year follow-up after prenatal diagnosis (how are the children without corpus callosum at 10 years of age?). Prenat Diagn. 2012;32(3):277-83. DOI:10.1002/pd.3824
40. Osbun N, Li J, O'Driscoll MC, et al. Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene. Am J Med Genet A. 2011;155A(8):1865-76. DOI:10.1002/ajmg.a.34081
41. Morton PD, Ishibashi N, Jonas RA. Neurodevelopmental Abnormalities and Congenital Heart Disease: Insights Into Altered Brain Maturation. Circ Res. 2017;120(6):960-77. DOI:10.1161/CIRCRESAHA.116.309048
42. Pashaj S, Merz E. Detection of Fetal Corpus Callosum Abnormalities by Means of 3D Ultrasound. Ultraschall Med. 2016;37(2):185-94. DOI:10.1055/s-0041-108565
43. Radswiki T, Campos A, Mahmoud Q, et al. Interhemispheric cyst. Reference article. Radiopaedia.org. DOI:10.53347/rID-15526. Accessed: 18.10.2024.
44. Winter T, Toscano MM. Proper latin terminology for the cavum septi pellucidi. AJR Am J Roentgenol. 2011;197(6):W1170. DOI:10.2214/AJR.11.7152
45. Gaillard F, Iqbal S, Sharma R, et al. Platybasia. Reference article. Radiopaedia.org. DOI:10.53347/rID-1892
46. Novikova LB, Akopian AP, Gainanov AF. Kraniovertebral'nye anomalii v ambulatornoi praktike nevrologa. Arkhivnaia kopiia ot 19.05.2011 na Wayback Machine (in Russian).
47. Falchek SJ, duPont AI. Malformed Cerebral Hemispheres. Reviewed/Revised. Available at: https://www.msdmanuals.com/professional/pediatrics/congenital-neurologic-anomalies/malformed-cerebra.... Accessed: 18.10.2024.
48. Dong X, Bai C, Nao J. Clinical and radiological features of Marchiafava-Bignami disease. Medicine (Baltimore). 2018;97(5):e9626. DOI:10.1097/MD.0000000000009626
49. Paul LK, Brown WS, Adolphs R, et al. Agenesis of the corpus callosum: genetic, developmental and functional aspects of connectivity. Nat Rev Neurosci. 2007;8(4):287-99. DOI:10.1038/nrn2107
50. Sztriha L. Spectrum of corpus callosum agenesis. Pediatr Neurol. 2005;32(2):94-101. DOI:10.1016/j.pediatrneurol.2004.09.007
51. Neupane H, Adhikari S, Dhungana S. Complete agenesis of the corpus callosum in paranoid schizophrenia-a case report. Clin Case Rep. 2021;9(10):e04911. DOI:10.1002/ccr3.4911
52. Santo S, D'Antonio F, Homfray T, et al. Counseling in fetal medicine: agenesis of the corpus callosum. Ultrasound Obstet Gynecol. 2012;40(5):513-21. DOI:10.1002/uog.12315
53. Manor C, Rangasami R, Suresh I, Suresh S. Magnetic Resonance Imaging Findings in Fetal Corpus Callosal Developmental Abnormalities: A Pictorial Essay. J Pediatr Neurosci. 2020;15(4):352-5. DOI:10.4103/jpn.JPN_174_19
54. Palmer EE, Mowat D. Agenesis of the corpus callosum: a clinical approach to diagnosis. Am J Med Genet C Semin Med Genet. 2014;166C(2):184-97. DOI:10.1002/ajmg.c.31405
2. Милованова О.А., Тараканова Т.Ю., Проничева Ю.Б., и др. Агенезия мозолистого тела, ассоциированная с наследственными синдромами. Анналы клинической и экспериментальной неврологии. 2017;10(2):62-7 [Milovanova OA, Tarakanova TYu, Pronicheva YuB, et al. Agenesis of the corpus callosum associated with hereditary syndromes. Annals of Clinical and Experimental Neurology. 2017;10(2):62-7 (in Russian)].
3. Schell-Apacik CC, Wagner K, Bihler M, et al. Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients. Am J Med Genet A. 2008;146A(19):2501-11. DOI:10.1002/ajmg.a.32476
4. Jeret JS, Serur D, Wisniewski K, Fisch C. Frequency of agenesis of the corpus callosum in the developmentally disabled population as determined by computerized tomography. Pediatr Neurosci. 1985;12(2):101-3. DOI:10.1159/000120229
5. Grogono JL. Children with agenesis of the corpus callosum. Dev Med Child Neurol. 1968;10(5):613-6. DOI:10.1111/j.1469-8749.1968.tb02944.x
6. Kumar P, Burton B. Congenital Malformations: Evidence-Based Evaluation and Management. 2007.
7. De León Reyes NS, Bragg-Gonzalo L, Nieto M. Development and plasticity of the corpus callosum. Development. 2020;147(18):dev189738. DOI:10.1242/dev.189738
8. Popoola O, Olayinka O, Azizi H, et al. Neuropsychiatric Manifestations of Partial Agenesis of the Corpus Callosum: A Case Report and Literature Review. Case Rep Psychiatry. 2019;2019:5925191. DOI:10.1155/2019/5925191
9. Nagwa S, Saran S, Sharma Y, Kharbanda A. Imaging features of complete agenesis of corpus callosum in a 3-year-old child. Sudan J Paediatr. 2018;18(2):69-71. DOI:10.24911/SJP.106-1523336915
10. Gaillard F, Walizai T, Campos A, et al. Dysgenesis of the corpus callosum. Reference article. Radiopaedia.org. DOI:10.53347/rID-864. Accessed: 18.10.2024.
11. Smith CJ, Smith ZG, Rasool H, et al. Unravelling the Clinical Co-Morbidity and Risk Factors Associated with Agenesis of the Corpus Callosum. J Clin Med. 2023;12:3623. DOI:10.3390/jcm12113623
12. Kier EL, Truwit CL. The normal and abnormal genu of the corpus callosum: an evolutionary, embryologic, anatomic, and MR analysis. AJNR Am J Neuroradiol. 1996;17(9):1631-41.
13. Das JM, Geetha R. Corpus Callosum Agenesis. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing. Available at: https://www.ncbi.nlm.nih.gov/books/NBK540986. Accessed: 18.10.2024.
14. Mahmoud Q. Agenesis of the corpus callosum with interhemispheric cyst. Case study. Radiopaedia.org. DOI:10.53347/rID-171818. Accessed: 18.10.2024.
15. Barkovich AJ, Simon EM, Walsh CA. Callosal agenesis with cyst: a better understanding and new classification. Neurology. 2001;56(2):220-7. DOI:10.1212/wnl.56.2.220
16. Ho M, Walizai T, Campos A, et al. Porencephaly. Reference article. Radiopaedia.org. DOI:10.53347/rID-7281. Accessed: 18.10.2024.
17. Marathu KK, Vahedifard F, Kocak M, et al. Fetal MRI Analysis of Corpus Callosal Abnormalities: Classification, and Associated Anomalies. Diagnostics (Basel). 2024;14(4). DOI:10.3390/diagnostics14040430
18. Аминофф М.Дж., Гринберг Д.А., Саймон Р.П. Клиническая неврология. М.: МЕДпресс-информ, 2009 [Aminoff MDzh, Grinberg DA, Saimon RP. Klinicheskaia nevrologiia. Moscow: MEDpress-inform, 2009 (in Russian)].
19. Sowell ER, Mattson SN, Thompson PM, et al. Mapping callosal morphology and cognitive correlates: effects of heavy prenatal alcohol exposure. Neurology.
2001;57(2):235-44. DOI:10.1212/wnl.57.2.235
20. Tang PH, Bartha AI, Norton ME, et al. Agenesis of the corpus callosum: an MR imaging analysis of associated abnormalities in the fetus. AJNR Am J Neuroradiol. 2009;30(2):257-63. DOI:10.3174/ajnr.A1331
21. Stevenson RE, Hall JG. Human Malformations and Related Anomalies. NY: Oxford University Press, 2006.
22. Morris JK, Wellesley DG, Barisic I, et al. Epidemiology of congenital cerebral anomalies in Europe: a multicentre, population-based EUROCAT study. Arc Dis Child.
2019;104(12):1181-7. DOI:10.1136/archdischild-2018-316733
23. Brown WS, Paul LK. The Neuropsychological Syndrome of Agenesis of the Corpus Callosum. J Int Neuropsychol Soc. 2019;25(3):324-30. DOI:10.1017/S135561771800111X
24. Mitchell TN, Free SL, Williamson KA, et al. Polymicrogyria and absence of pineal gland due to PAX6 mutation. Ann Neurol. 2003;53(5):658-3. DOI:10.1002/ana.10576
25. Милованова О.А., Тараканова Т.Ю., Проничева Ю.Б., и др. Агенезия мозолистого тела, ассоциированная с наследственными синдромами. Анналы клинической и экспериментальной неврологии. 2017;11(2):62-7 [Milovanova OA, Tarakanova TYu, Pronicheva YuB, et al. Agenesis of the corpus callosum associated with hereditary syndromes. Annals of Clinical and Experimental Neurology. 2017;11(2):62-7 (in Russian)].
26. Ghavipisheh M, Jahromi LR, Ahrari I, Jahromi MG. Complete agenesis of corpus callosum with a rare neuropsychiatric presentation: A case report. Radiol Case Rep.
2023;18(4):1442-45. DOI:10.1016/j.radcr.2023.01.031
27. Guadarrama-Ortiz P, Choreño-Parra JA, de la Rosa-Arredondo T. Isolated agenesis of the corpus callosum and normal general intelligence development during postnatal life: a case report and review of the literature. J Med Case Rep. 2020;14(1):28. DOI:10.1186/s13256-020-2359-2
28. Bhattacharyya R, Sanyal D, Chakraborty S, Bhattacharyya S. A case of corpus callosum agenesis presenting with recurrent brief depression. Indian J Psychol Med.
2009;31(2):92-5. DOI:10.4103/0253-7176.63580
29. Doherty D, Tu S, Schilmoeller K, Schilmoeller G. Health-related issues in individuals with agenesis of the corpus callosum. Child Care Health Dev.
2006;32(3):333-42. DOI:10.1111/j.1365-2214.2006.00602.x
30. Des Portes V, Rolland A, Velazquez-Dominguez J, et al. Outcome of isolated agenesis of the corpus callosum: A population-based prospective study. Eur J Paediatr Neurol. 2018;22(1):82-92. DOI:10.1016/j.ejpn.2017.08.003
31. Hanna RM, Marsh SE, Swistun D, et al. Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families. Neurology. 2011;76(4):373-82. DOI:10.1212/WNL.0b013e318208f492
32. Neal JB, Filippi CG, Mayeux R. Morphometric variability of neuroimaging features in children with agenesis of the corpus callosum. BMC Neurol. 2015;15:116.
DOI:10.1186/s12883-015-0382-5
33. Severino M, Tortora D, Reid C, et al. Imaging characteristics and neurosurgical outcome in subjects with agenesis of the corpus callosum and interhemispheric cysts. Neuroradiology. 2022;64(11):2163-17. DOI:10.1007/s00234-022-02990-1
34. Cherian EV, Shenoy KV, Bukelo MJ, Thomas DA. Racing car brings tear drops in the moose. BMJ Case Rep. 2013;2013. DOI:10.1136/bcr-2012-008165
35. Shwe WH, Schlatterer SD, Williams J, et al. Outcome of Agenesis of the Corpus Callosum Diagnosed by Fetal MRI. Pediatr Neurol. 2022;135:44-51. DOI:10.1016/j.pediatrneurol.2022.07.007
36. Никогосова А.К., Ростовцева Т.М., Берегов М.М., и др. Магнитно-резонансная трактография: возможности и ограничения метода, современный подход к обработке данных. Медицинская визуализация. 2022;26(3):132-48 [Nikogosova AK, Rostovtseva TM, Beregov MM, et al. Magnetic resonance tractogtaphy: possibilities and limitations, modern approach to data processing. Medical Visualization. 2022;26(3):132-48 (in Russian)]. DOI:10.24835/1607-0763-1064
37. David AS, Wacharasindhu A, Lishman WA. Severe psychiatric disturbance and abnormalities of the corpus callosum: review and case series. J Neurol Neurosurg Psychiatry. 1993;56(1):85-93. DOI:10.1136/jnnp.56.1.85
38. Bedeschi MF, Bonaglia MC, Grasso R, et al. Agenesis of the corpus callosum: clinical and genetic study in 63 young patients. Pediatr Neurol. 2006;34(3):186-93. DOI:10.1016/j.pediatrneurol.2005.08.008
39. Moutard ML, Kieffer V, Feingold J, et al. Isolated corpus callosum agenesis: a ten-year follow-up after prenatal diagnosis (how are the children without corpus callosum at 10 years of age?). Prenat Diagn. 2012;32(3):277-83. DOI:10.1002/pd.3824
40. Osbun N, Li J, O'Driscoll MC, et al. Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene. Am J Med Genet A. 2011;155A(8):1865-76. DOI:10.1002/ajmg.a.34081
41. Morton PD, Ishibashi N, Jonas RA. Neurodevelopmental Abnormalities and Congenital Heart Disease: Insights Into Altered Brain Maturation. Circ Res. 2017;120(6):960-77. DOI:10.1161/CIRCRESAHA.116.309048
42. Pashaj S, Merz E. Detection of Fetal Corpus Callosum Abnormalities by Means of 3D Ultrasound. Ultraschall Med. 2016;37(2):185-94. DOI:10.1055/s-0041-108565
43. Radswiki T, Campos A, Mahmoud Q, et al. Interhemispheric cyst. Reference article. Radiopaedia.org. DOI:10.53347/rID-15526. Accessed: 18.10.2024.
44. Winter T, Toscano MM. Proper latin terminology for the cavum septi pellucidi. AJR Am J Roentgenol. 2011;197(6):W1170. DOI:10.2214/AJR.11.7152
45. Gaillard F, Iqbal S, Sharma R, et al. Platybasia. Reference article. Radiopaedia.org. DOI:10.53347/rID-1892
46. Новикова Л.Б., Акопян А.П., Гайнанов А.Ф. Краниовертебральные аномалии в амбулаторной практике невролога. Архивная копия от 19.05.2011 на Wayback Machine [Novikova LB, Akopian AP, Gainanov AF. Kraniovertebral'nye anomalii v ambulatornoi praktike nevrologa. Arkhivnaia kopiia ot 19.05.2011 na Wayback Machine (in Russian)].
47. Falchek SJ, duPont AI. Malformed Cerebral Hemispheres. Reviewed/Revised. Available at: https://www.msdmanuals.com/professional/pediatrics/congenital-neurologic-anomalies/malformed-cerebra.... Accessed: 18.10.2024.
48. Dong X, Bai C, Nao J. Clinical and radiological features of Marchiafava-Bignami disease. Medicine (Baltimore). 2018;97(5):e9626. DOI:10.1097/MD.0000000000009626
49. Paul LK, Brown WS, Adolphs R, et al. Agenesis of the corpus callosum: genetic, developmental and functional aspects of connectivity. Nat Rev Neurosci. 2007;8(4):287-99. DOI:10.1038/nrn2107
50. Sztriha L. Spectrum of corpus callosum agenesis. Pediatr Neurol. 2005;32(2):94-101. DOI:10.1016/j.pediatrneurol.2004.09.007
51. Neupane H, Adhikari S, Dhungana S. Complete agenesis of the corpus callosum in paranoid schizophrenia-a case report. Clin Case Rep. 2021;9(10):e04911. DOI:10.1002/ccr3.4911
52. Santo S, D'Antonio F, Homfray T, et al. Counseling in fetal medicine: agenesis of the corpus callosum. Ultrasound Obstet Gynecol. 2012;40(5):513-21. DOI:10.1002/uog.12315
53. Manor C, Rangasami R, Suresh I, Suresh S. Magnetic Resonance Imaging Findings in Fetal Corpus Callosal Developmental Abnormalities: A Pictorial Essay. J Pediatr Neurosci. 2020;15(4):352-5. DOI:10.4103/jpn.JPN_174_19
54. Palmer EE, Mowat D. Agenesis of the corpus callosum: a clinical approach to diagnosis. Am J Med Genet C Semin Med Genet. 2014;166C(2):184-97. DOI:10.1002/ajmg.c.31405
________________________________________________
2. Milovanova OA, Tarakanova TYu, Pronicheva YuB, et al. Agenesis of the corpus callosum associated with hereditary syndromes. Annals of Clinical and Experimental Neurology. 2017;10(2):62-7 (in Russian).
3. Schell-Apacik CC, Wagner K, Bihler M, et al. Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients. Am J Med Genet A. 2008;146A(19):2501-11. DOI:10.1002/ajmg.a.32476
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Авторы
Н.А. Огнерубов*1, Т.С. Антипова2, О.О. Мирсалимова2, М.А. Земур3
1ФГБОУ ДПО «Российская медицинская академия непрерывного профессионального образования» Минздрава России, Москва, Россия;
2Федеральная сеть центров ядерной медицины «ПЭТ-Технолоджи», Москва, Россия;
3Онкорадиологический центр «ПЭТ-Технолоджи», Подольск, Россия
*ognerubov_n.a@mail.ru
1Russian Medical Academy of Continuous Professional Education, Moscow, Russia;
2Federal Network of Nuclear Medicine Centers "PET-Technology", Moscow, Russia;
3PET-Technology Oncoradiology Center, Podolsk, Russia
*ognerubov_n.a@mail.ru
1ФГБОУ ДПО «Российская медицинская академия непрерывного профессионального образования» Минздрава России, Москва, Россия;
2Федеральная сеть центров ядерной медицины «ПЭТ-Технолоджи», Москва, Россия;
3Онкорадиологический центр «ПЭТ-Технолоджи», Подольск, Россия
*ognerubov_n.a@mail.ru
________________________________________________
1Russian Medical Academy of Continuous Professional Education, Moscow, Russia;
2Federal Network of Nuclear Medicine Centers "PET-Technology", Moscow, Russia;
3PET-Technology Oncoradiology Center, Podolsk, Russia
*ognerubov_n.a@mail.ru
Цель портала OmniDoctor – предоставление профессиональной информации врачам, провизорам и фармацевтам.