Health care of Kyrgyzstan
Zdravoohraneniye Kyrgyzstana

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Issues of early diagnosis of Tuberous Sclerosis in childhood. Description of a clinical case

https://dx.doi.org/10.51350/zdravkg2024.2.6.13.95.100
Issues of early diagnosis of Tuberous Sclerosis in childhood. Description of a clinical case
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Abstract About the authors References

Abstract

Introduction. Tuberous sclerosis (TS), also known as epiloia, is a rare genetic disorder of autosomal dominant inheritance with a prevalence of one in 6,000 to one in 12,000. The aim of the study - To analyze the current scientific literature on tuberous sclerosis and present a case report from our clinical practice. Materials and methods. The patient whose medical history was described in this article was diagnosed based on diagnostic criteria for tuberous sclerosis. Results. We present magnetic resonance imaging (MRI) findings of a thirteen- year-old boy with multiple facial angiofibromas, epileptic syndrome and skin pigmentation spots, who was referred to the URFA Medical Center, followed by DNA testing by clinical sequencing. Conclusion. Since the disease is rare, doctors in Kyrgyzstan are not entirely familiar with the clinic and the nuances of diagnosis. However, timely determination of diagnostic criteria for tuberous sclerosis helps prevent complications of this disease and improve the quality of life of patients with this diagnosis.

About the authors

Нурбекова Улболсун Ажибековна, кандидат медицинских наук, доцент, заведующая поликлиники МЦ “ЮРФА”, Бишкек, Кыргызская Республика

Кан Диана Михайловна, студент кафедры неврологии и клинической генетики Кыргызской государственной медицинской академии им. И.К. Ахунбаева, Бишкек, Кыргызская Республика

Мамытова Эльмира Миталиповна, доктор медицинских наук, заведующая кафедры Неврологии и клинической генетики Кыргызской государственной медицинской академии им. И.К. Ахунбаева, Бишкек, Кыргызская Республика

Режапов Исмоилжон Абдужабборович, студент кафедры неврологии и клинической генетики Кыргызской государственной медицинской академии им. И.К. Ахунбаева, Бишкек, Кыргызская Республика

 

Nurbekova Ulbolsun Azhibekovna, Candidate of Medical Sciences, Associate Professor, Head of the polyclinic of the MC “URFA”, Bishkek, Kyrgyz Republic

Kang Diana Mihailovna, student of the Department of Neurology and Clinical Genetics of the Kyrgyz State Medical Academy named after. I.K. Akhunbaeva, Bishkek, Kyrgyz Republic
Mamytova Elmira Mitalipovna, Doctor of Medical Sciences, Head of the Department of Neurology and Clinical Genetics of the Kyrgyz State Medical Academy named after. I.K. Akhunbaeva, Bishkek, Kyrgyz Republic

Rezhapov Ismoilzhon Abdujabborovich, student of the Department of Neurology and Clinical Genetics of the Kyrgyz State Medical Academy named after. I.K. Akhunbaeva, Bishkek, Kyrgyz Republic

Нурбекова Улболсун Ажыбековна, медицина илимдеринин кандидаты, доцент, «УРФА» МКсынын поликлиникасынын жетекчиси, Бишкек шаары, Кыргыз Республикасы

Кан Диана Михайловна, И.К. Ахунбаев атындагы Кыргыз мамлекеттик медициналык академиясынын неврология жана клиникалык генетика кафедрасынын студенти, Бишкек, Кыргыз Республикасы

Мамытова Эльмира Миталиповна, медицина илимдеринин доктору, И.К. Ахунбаев атындагы Кыргыз мамлекеттик медициналык академиясынын неврология жана клиникалык генетика кафедрасынын башчысы, Бишкек, Кыргыз Республикасы

Режапов Исмоилжон Абдужабборович, И.К. Ахунбаев атындагы Кыргыз мамлекеттик медициналык академиясынын неврология жана клиникалык генетика кафедрасынын студенти, Бишкек, Кыргыз Республикасы

References

1. Tuberous Sclerosis Complex Board of Osaka University Hospital. Tuberous sclerosis complex: recent advances in
manifestations and therapy. Wataya‐Kaneda M, Uemura M, Fujita K, Hirata H, Osuga K, Kagitani‐Shimono K, Nonomu
ra N. Int J Urol. 2017;24:681691. https://onlinelibrary.wiley.com/doi/full/10.1111/iju.13390.
2. Tuberous sclerosis. Curatolo P, Maria BL. Handb Clin Neurol. 2013;111:323–331.
3. Tuberous sclerosis complex: a review. Leung AK, Robson WL. J Pediatr Health Care. 2007;21:108–114.

4. The tuberous sclerosis complex. Crino PB, Nathanson KL, Henske EP. N Engl J Med. 2006;28:1345–1356.
5. A case report of tuberous sclerosis in two generations. Patil S, Guruprasad KY. J Assoc Physicians India. 2014;62:60–
64. https://europepmc.org/article/med/26259427
6. Bilateral and multiple periungual fibromas as an oligosymptomatic form of tuberous sclerosis. Ruiz-Villaverde R, Blas
co-Melguizo J, Hernández-Jurado I, Naranjo-Sintes R, Salmerón MT. Dermatology. 2004;209:160–161.
7. Tuberous sclerosis complex: advances in diagnosis, genetics, and management. Schwartz RA, Fernández G, Kotulska K, Jóźwiak S. JAAD. 2007;57:189–202.
8. Tuberous sclerosis. Harris-Stith R, Elston DM. Contin MedEduc. 2002;69:103.https://mdedge-files-live.s3.us-east-2.
amazonaws.com/files/s3fs-public/Document/September-2017/069020103.pdf
9. Shave and phenolization of periungual fibromas, Koenen's tumors, in a patient with tuberous sclerosis. Mazaira M, Lo
sada JD, Fernandez-Jorge B, Fernandez-Torres R, MartINez W, Fonseca E. Dermatol Surg. 2008;34:111–113.
10. Pictorial review of tuberous sclerosis in various organs. Umeoka S, Koyama T, Miki Y, Akai M, Tsutsui K, Togashi
K. Radiographics. 2008;28:32.
11. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. Roach ES, Gomez MR, Northrup H. J Child Neurol. 1998;13:624–628.
12. Tuberous sclerosis complex: genetics to pathogenesis. Narayanan V. Pediatr Neurol. 2003;29:404–409.

1. Tuberous Sclerosis Complex Board of Osaka University Hospital. Tuberous sclerosis complex: recent advances in
manifestations and therapy. Wataya‐Kaneda M, Uemura M, Fujita K, Hirata H, Osuga K, Kagitani‐Shimono K, Nonomu
ra N. Int J Urol. 2017;24:681691. https://onlinelibrary.wiley.com/doi/full/10.1111/iju.13390.
2. Tuberous sclerosis. Curatolo P, Maria BL. Handb Clin Neurol. 2013;111:323–331.
3. Tuberous sclerosis complex: a review. Leung AK, Robson WL. J Pediatr Health Care. 2007;21:108–114.

4. The tuberous sclerosis complex. Crino PB, Nathanson KL, Henske EP. N Engl J Med. 2006;28:1345–1356.
5. A case report of tuberous sclerosis in two generations. Patil S, Guruprasad KY. J Assoc Physicians India. 2014;62:60–
64. https://europepmc.org/article/med/26259427
6. Bilateral and multiple periungual fibromas as an oligosymptomatic form of tuberous sclerosis. Ruiz-Villaverde R, Blas
co-Melguizo J, Hernández-Jurado I, Naranjo-Sintes R, Salmerón MT. Dermatology. 2004;209:160–161.
7. Tuberous sclerosis complex: advances in diagnosis, genetics, and management. Schwartz RA, Fernández G, Kotulska K, Jóźwiak S. JAAD. 2007;57:189–202.
8. Tuberous sclerosis. Harris-Stith R, Elston DM. Contin MedEduc. 2002;69:103.https://mdedge-files-live.s3.us-east-2.
amazonaws.com/files/s3fs-public/Document/September-2017/069020103.pdf
9. Shave and phenolization of periungual fibromas, Koenen's tumors, in a patient with tuberous sclerosis. Mazaira M, Lo
sada JD, Fernandez-Jorge B, Fernandez-Torres R, MartINez W, Fonseca E. Dermatol Surg. 2008;34:111–113.
10. Pictorial review of tuberous sclerosis in various organs. Umeoka S, Koyama T, Miki Y, Akai M, Tsutsui K, Togashi
K. Radiographics. 2008;28:32.
11. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. Roach ES, Gomez MR, Northrup H. J Child Neurol. 1998;13:624–628.
12. Tuberous sclerosis complex: genetics to pathogenesis. Narayanan V. Pediatr Neurol. 2003;29:404–409.

1. Tuberous Sclerosis Complex Board of Osaka University Hospital. Tuberous sclerosis complex: recent advances in
manifestations and therapy. Wataya‐Kaneda M, Uemura M, Fujita K, Hirata H, Osuga K, Kagitani‐Shimono K, Nonomu
ra N. Int J Urol. 2017;24:681691. https://onlinelibrary.wiley.com/doi/full/10.1111/iju.13390.
2. Tuberous sclerosis. Curatolo P, Maria BL. Handb Clin Neurol. 2013;111:323–331.
3. Tuberous sclerosis complex: a review. Leung AK, Robson WL. J Pediatr Health Care. 2007;21:108–114.

4. The tuberous sclerosis complex. Crino PB, Nathanson KL, Henske EP. N Engl J Med. 2006;28:1345–1356.
5. A case report of tuberous sclerosis in two generations. Patil S, Guruprasad KY. J Assoc Physicians India. 2014;62:60–
64. https://europepmc.org/article/med/26259427
6. Bilateral and multiple periungual fibromas as an oligosymptomatic form of tuberous sclerosis. Ruiz-Villaverde R, Blas
co-Melguizo J, Hernández-Jurado I, Naranjo-Sintes R, Salmerón MT. Dermatology. 2004;209:160–161.
7. Tuberous sclerosis complex: advances in diagnosis, genetics, and management. Schwartz RA, Fernández G, Kotulska K, Jóźwiak S. JAAD. 2007;57:189–202.
8. Tuberous sclerosis. Harris-Stith R, Elston DM. Contin MedEduc. 2002;69:103.https://mdedge-files-live.s3.us-east-2.
amazonaws.com/files/s3fs-public/Document/September-2017/069020103.pdf
9. Shave and phenolization of periungual fibromas, Koenen's tumors, in a patient with tuberous sclerosis. Mazaira M, Lo
sada JD, Fernandez-Jorge B, Fernandez-Torres R, MartINez W, Fonseca E. Dermatol Surg. 2008;34:111–113.
10. Pictorial review of tuberous sclerosis in various organs. Umeoka S, Koyama T, Miki Y, Akai M, Tsutsui K, Togashi
K. Radiographics. 2008;28:32.
11. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. Roach ES, Gomez MR, Northrup H. J Child Neurol. 1998;13:624–628.
12. Tuberous sclerosis complex: genetics to pathogenesis. Narayanan V. Pediatr Neurol. 2003;29:404–409.

Keywords
Tuberous sclerosis , Angiofibromas , Tuberos , Convulsions , Hypopigmented spots , Lymphangioleiomyomatosis
Для цитирования

Нурбекова У.А., Кан Д.М., Мамытова Э.М., Режапов И.А. Вопросы ранней диагностики Туберозного Склероза у детей. Описание клинического случая. Научно-практический журнал «Здравоохранение Кыргызстана» 2024, № 2, с.95-100.  https://dx.doi.org/10.51350/zdravkg2024.2.6.13.95.100 
For citation

Nurbekova U.A., Kang D.M., Mamytova E.M.,Rezhapov I. A. Issues of early diagnosis of Tuberous Sclerosis in child
hood. Description of a clinical case.Scientific and practical journal “Health care of Kyrgyzstan” 2024, No.2, p. 95-100.  https://dx.doi.org/10.51350/zdravkg2024.2.6.13.95.100

Цитата үчүн

Нурбекова У.А., Кан Д.М., Мамытова Э.М., Режапов И.А. Балдардын кургак учук склерозун эрте диагностикалоо маселелери. Клиникалык окуянын сүрөттөлүшү. "Кыргызстандын саламаттык сактоо"  илимий-практикалык журналы 2024, № 2, б. 95-100.  https://dx.doi.org/10.51350/zdravkg2024.2.6.13.95.100
Authors Nurbekova U.A., Kang D.M., Mamytova E.M., Rezhapov I. A.
Link doi.org https://dx.doi.org/10.51350/zdravkg2024.2.6.13.95.100
Pages 95-100
Keywords Tuberous sclerosis, Angiofibromas, Tuberos, Convulsions, Hypopigmented spots, Lymphangioleiomyomatosis
Russian
Об авторах

Нурбекова Улболсун Ажибековна, кандидат медицинских наук, доцент, заведующая поликлиники МЦ “ЮРФА”, Бишкек, Кыргызская Республика

Кан Диана Михайловна, студент кафедры неврологии и клинической генетики Кыргызской государственной медицинской академии им. И.К. Ахунбаева, Бишкек, Кыргызская Республика

Мамытова Эльмира Миталиповна, доктор медицинских наук, заведующая кафедры Неврологии и клинической генетики Кыргызской государственной медицинской академии им. И.К. Ахунбаева, Бишкек, Кыргызская Республика

Режапов Исмоилжон Абдужабборович, студент кафедры неврологии и клинической генетики Кыргызской государственной медицинской академии им. И.К. Ахунбаева, Бишкек, Кыргызская Республика

 
Полный текст

PDF (RUS)
Список литературы

1. Tuberous Sclerosis Complex Board of Osaka University Hospital. Tuberous sclerosis complex: recent advances in
manifestations and therapy. Wataya‐Kaneda M, Uemura M, Fujita K, Hirata H, Osuga K, Kagitani‐Shimono K, Nonomu
ra N. Int J Urol. 2017;24:681691. https://onlinelibrary.wiley.com/doi/full/10.1111/iju.13390.
2. Tuberous sclerosis. Curatolo P, Maria BL. Handb Clin Neurol. 2013;111:323–331.
3. Tuberous sclerosis complex: a review. Leung AK, Robson WL. J Pediatr Health Care. 2007;21:108–114.

4. The tuberous sclerosis complex. Crino PB, Nathanson KL, Henske EP. N Engl J Med. 2006;28:1345–1356.
5. A case report of tuberous sclerosis in two generations. Patil S, Guruprasad KY. J Assoc Physicians India. 2014;62:60–
64. https://europepmc.org/article/med/26259427
6. Bilateral and multiple periungual fibromas as an oligosymptomatic form of tuberous sclerosis. Ruiz-Villaverde R, Blas
co-Melguizo J, Hernández-Jurado I, Naranjo-Sintes R, Salmerón MT. Dermatology. 2004;209:160–161.
7. Tuberous sclerosis complex: advances in diagnosis, genetics, and management. Schwartz RA, Fernández G, Kotulska K, Jóźwiak S. JAAD. 2007;57:189–202.
8. Tuberous sclerosis. Harris-Stith R, Elston DM. Contin MedEduc. 2002;69:103.https://mdedge-files-live.s3.us-east-2.
amazonaws.com/files/s3fs-public/Document/September-2017/069020103.pdf
9. Shave and phenolization of periungual fibromas, Koenen's tumors, in a patient with tuberous sclerosis. Mazaira M, Lo
sada JD, Fernandez-Jorge B, Fernandez-Torres R, MartINez W, Fonseca E. Dermatol Surg. 2008;34:111–113.
10. Pictorial review of tuberous sclerosis in various organs. Umeoka S, Koyama T, Miki Y, Akai M, Tsutsui K, Togashi
K. Radiographics. 2008;28:32.
11. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. Roach ES, Gomez MR, Northrup H. J Child Neurol. 1998;13:624–628.
12. Tuberous sclerosis complex: genetics to pathogenesis. Narayanan V. Pediatr Neurol. 2003;29:404–409.

Для цитирования

Нурбекова У.А., Кан Д.М., Мамытова Э.М., Режапов И.А. Вопросы ранней диагностики Туберозного Склероза у детей. Описание клинического случая. Научно-практический журнал «Здравоохранение Кыргызстана» 2024, № 2, с.95-100.  https://dx.doi.org/10.51350/zdravkg2024.2.6.13.95.100 
English
About authors

Nurbekova Ulbolsun Azhibekovna, Candidate of Medical Sciences, Associate Professor, Head of the polyclinic of the MC “URFA”, Bishkek, Kyrgyz Republic

Kang Diana Mihailovna, student of the Department of Neurology and Clinical Genetics of the Kyrgyz State Medical Academy named after. I.K. Akhunbaeva, Bishkek, Kyrgyz Republic
Mamytova Elmira Mitalipovna, Doctor of Medical Sciences, Head of the Department of Neurology and Clinical Genetics of the Kyrgyz State Medical Academy named after. I.K. Akhunbaeva, Bishkek, Kyrgyz Republic

Rezhapov Ismoilzhon Abdujabborovich, student of the Department of Neurology and Clinical Genetics of the Kyrgyz State Medical Academy named after. I.K. Akhunbaeva, Bishkek, Kyrgyz Republic
References

1. Tuberous Sclerosis Complex Board of Osaka University Hospital. Tuberous sclerosis complex: recent advances in
manifestations and therapy. Wataya‐Kaneda M, Uemura M, Fujita K, Hirata H, Osuga K, Kagitani‐Shimono K, Nonomu
ra N. Int J Urol. 2017;24:681691. https://onlinelibrary.wiley.com/doi/full/10.1111/iju.13390.
2. Tuberous sclerosis. Curatolo P, Maria BL. Handb Clin Neurol. 2013;111:323–331.
3. Tuberous sclerosis complex: a review. Leung AK, Robson WL. J Pediatr Health Care. 2007;21:108–114.

4. The tuberous sclerosis complex. Crino PB, Nathanson KL, Henske EP. N Engl J Med. 2006;28:1345–1356.
5. A case report of tuberous sclerosis in two generations. Patil S, Guruprasad KY. J Assoc Physicians India. 2014;62:60–
64. https://europepmc.org/article/med/26259427
6. Bilateral and multiple periungual fibromas as an oligosymptomatic form of tuberous sclerosis. Ruiz-Villaverde R, Blas
co-Melguizo J, Hernández-Jurado I, Naranjo-Sintes R, Salmerón MT. Dermatology. 2004;209:160–161.
7. Tuberous sclerosis complex: advances in diagnosis, genetics, and management. Schwartz RA, Fernández G, Kotulska K, Jóźwiak S. JAAD. 2007;57:189–202.
8. Tuberous sclerosis. Harris-Stith R, Elston DM. Contin MedEduc. 2002;69:103.https://mdedge-files-live.s3.us-east-2.
amazonaws.com/files/s3fs-public/Document/September-2017/069020103.pdf
9. Shave and phenolization of periungual fibromas, Koenen's tumors, in a patient with tuberous sclerosis. Mazaira M, Lo
sada JD, Fernandez-Jorge B, Fernandez-Torres R, MartINez W, Fonseca E. Dermatol Surg. 2008;34:111–113.
10. Pictorial review of tuberous sclerosis in various organs. Umeoka S, Koyama T, Miki Y, Akai M, Tsutsui K, Togashi
K. Radiographics. 2008;28:32.
11. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. Roach ES, Gomez MR, Northrup H. J Child Neurol. 1998;13:624–628.
12. Tuberous sclerosis complex: genetics to pathogenesis. Narayanan V. Pediatr Neurol. 2003;29:404–409.
For citation

Nurbekova U.A., Kang D.M., Mamytova E.M.,Rezhapov I. A. Issues of early diagnosis of Tuberous Sclerosis in child
hood. Description of a clinical case.Scientific and practical journal “Health care of Kyrgyzstan” 2024, No.2, p. 95-100.  https://dx.doi.org/10.51350/zdravkg2024.2.6.13.95.100

Kyrgyz
Авторлор жөнүндө

Нурбекова Улболсун Ажыбековна, медицина илимдеринин кандидаты, доцент, «УРФА» МКсынын поликлиникасынын жетекчиси, Бишкек шаары, Кыргыз Республикасы

Кан Диана Михайловна, И.К. Ахунбаев атындагы Кыргыз мамлекеттик медициналык академиясынын неврология жана клиникалык генетика кафедрасынын студенти, Бишкек, Кыргыз Республикасы

Мамытова Эльмира Миталиповна, медицина илимдеринин доктору, И.К. Ахунбаев атындагы Кыргыз мамлекеттик медициналык академиясынын неврология жана клиникалык генетика кафедрасынын башчысы, Бишкек, Кыргыз Республикасы

Режапов Исмоилжон Абдужабборович, И.К. Ахунбаев атындагы Кыргыз мамлекеттик медициналык академиясынын неврология жана клиникалык генетика кафедрасынын студенти, Бишкек, Кыргыз Республикасы
Шилтемелер

1. Tuberous Sclerosis Complex Board of Osaka University Hospital. Tuberous sclerosis complex: recent advances in
manifestations and therapy. Wataya‐Kaneda M, Uemura M, Fujita K, Hirata H, Osuga K, Kagitani‐Shimono K, Nonomu
ra N. Int J Urol. 2017;24:681691. https://onlinelibrary.wiley.com/doi/full/10.1111/iju.13390.
2. Tuberous sclerosis. Curatolo P, Maria BL. Handb Clin Neurol. 2013;111:323–331.
3. Tuberous sclerosis complex: a review. Leung AK, Robson WL. J Pediatr Health Care. 2007;21:108–114.

4. The tuberous sclerosis complex. Crino PB, Nathanson KL, Henske EP. N Engl J Med. 2006;28:1345–1356.
5. A case report of tuberous sclerosis in two generations. Patil S, Guruprasad KY. J Assoc Physicians India. 2014;62:60–
64. https://europepmc.org/article/med/26259427
6. Bilateral and multiple periungual fibromas as an oligosymptomatic form of tuberous sclerosis. Ruiz-Villaverde R, Blas
co-Melguizo J, Hernández-Jurado I, Naranjo-Sintes R, Salmerón MT. Dermatology. 2004;209:160–161.
7. Tuberous sclerosis complex: advances in diagnosis, genetics, and management. Schwartz RA, Fernández G, Kotulska K, Jóźwiak S. JAAD. 2007;57:189–202.
8. Tuberous sclerosis. Harris-Stith R, Elston DM. Contin MedEduc. 2002;69:103.https://mdedge-files-live.s3.us-east-2.
amazonaws.com/files/s3fs-public/Document/September-2017/069020103.pdf
9. Shave and phenolization of periungual fibromas, Koenen's tumors, in a patient with tuberous sclerosis. Mazaira M, Lo
sada JD, Fernandez-Jorge B, Fernandez-Torres R, MartINez W, Fonseca E. Dermatol Surg. 2008;34:111–113.
10. Pictorial review of tuberous sclerosis in various organs. Umeoka S, Koyama T, Miki Y, Akai M, Tsutsui K, Togashi
K. Radiographics. 2008;28:32.
11. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. Roach ES, Gomez MR, Northrup H. J Child Neurol. 1998;13:624–628.
12. Tuberous sclerosis complex: genetics to pathogenesis. Narayanan V. Pediatr Neurol. 2003;29:404–409.
Цитата үчүн

Нурбекова У.А., Кан Д.М., Мамытова Э.М., Режапов И.А. Балдардын кургак учук склерозун эрте диагностикалоо маселелери. Клиникалык окуянын сүрөттөлүшү. "Кыргызстандын саламаттык сактоо"  илимий-практикалык журналы 2024, № 2, б. 95-100.  https://dx.doi.org/10.51350/zdravkg2024.2.6.13.95.100
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