电邮这篇文章 Сase of congenital cataract development in a child with Farh disease
- 作者: Kruglova T.B.1, Egiyan N.S.1, Mamykina A.S.1
-
隶属关系:
- Helmholtz National Medical Research Center of Eye Diseases
- 期: 卷 17, 编号 2 (2022)
- 页面: 39-44
- 栏目: Case reports
- URL: https://journals.rcsi.science/1993-1859/article/view/106073
- DOI: https://doi.org/10.17816/rpoj106073
- ID: 106073
如何引用文章
开放存取
##reader.subscriptionAccessGranted##
订阅存取
详细
INTRODUCTION: Fahr disease is a rare idiopathic neurodegenerative disorder characterized by the calcification of the basal ganglia, cerebellar dentate nuclei, and surrounding white matter leading to progressive nervous system dysfunction. Cases of congenital cataracts are not described.
AIM: To describe a clinical case of congenital cataract in a pediatric patient with Farh disease.
MATERIAL AND METHODS: Congenital atypical progressive metabolic cataract was diagnosed in a 9-year-old child. Congenital cataract extraction with intraocular lens implantation was performed.
RESULTS: Refraction before operation was sph+2.0 cyl+1.5 ax 107 and sph+0.25 cyl+1.25 ax 74, respectively. The preoperative visual acuity for both eyes was 0.5 log MAR and 1.0 log MAR, respectively. Crystalline lenses were cloudy with atypical star-shaped infusions. Full-field electroretinogram (ERG) a-wave and b-wave were normal for OD and abnormal for OS, and flicker ERG was normal for both eyes. Visually evoked potentials were prolonged for both eyes. The intraocular pressure was normal for both eyes. The axial lengths were 22.60 mm and 22.62 mm, respectively. Exudative reaction was noted postoperatively, and the logMar visual acuity improved to 0.2 for both eyes.
CONCLUSION: Congenital cataracts may be diagnosed in patients with Fahr disease. Dynamic examination of the child with a wide pupil is necessary to identify initial changes in the lens and to refer him/her for surgical treatment. There is an increased risk of exudative reactions in the early postoperative period.
作者简介
Tatyana Kruglova
Helmholtz National Medical Research Center of Eye Diseases
Email: alexandraugust1@gmail.com
ORCID iD: 0000-0003-4193-681X
SPIN 代码: 5466-6754
MD, Dr. Sci. (Med.)
俄罗斯联邦, MoscowNaira Egiyan
Helmholtz National Medical Research Center of Eye Diseases
Email: alexandraugust1@gmail.com
ORCID iD: 0000-0001-9906-4706
SPIN 代码: 4765-4725
MD, PhD
俄罗斯联邦, MoscowAleksandra Mamykina
Helmholtz National Medical Research Center of Eye Diseases
编辑信件的主要联系方式.
Email: alexandraugust1@gmail.com
ORCID iD: 0000-0003-3521-6381
MD, PhD student
俄罗斯联邦, Moscow参考
- Yakhno NN. Fahr disease. Voprosnik nevrologicheskiy. 2001;(4):17–22. (In Russ).
- Kovaleva YB, Antipova LN, Prokhorova ES. Simmetrichnyi bilateral’nyi itratserebral’nyi kal’tsinoz (bolezn’ Fara). Vestnik MUZ GB №2. 2011;5(17):52–64. (In Russ).
- Tishchenko VN, Tishchenko GV. Fahr disease in postmortem examination (case report). Problemy zdorov’’ya i ekologii. 2013;2(36):146–150. (In Russ).
- Ivanchenko EN, Shedenko MI, Spizharskii EV, et al. Klinicheskii sluchai bolezni Fara. Omskii psikhiatricheskii zhurnal. 2016;3(9):11–15. (In Russ).
- Matveeva TV, Ovsyannikova KS. Primary (Fahr disease) and secondary calcification of the basal ganglia (clinical observation). Neurology bulletin. 2016;48(2):57–62. (In Russ).
- Kozlov SI, Alekseeva LA. Fahr’s disease. A clinical case of distributed idiopathic subcortical calcification, comorbid with hypoparathyroidis. Omskii psikhiatricheskii zhurnal. 2018;4(18):14–17. (In Russ).
- Maghraoul A, Birouk N, Zaim A, et al. Fahr syndrome and dysparathytoidism. Presse Med. 1995;24(28):1301–1304.
- Cyseo A, Boldizsar F, Gellert M. Electron microscopic study of striatodental calcification (Fahr). Acta Neuropathol. 1975;31(4):305–313. doi: 10.1007/BF00687925
- Fahr T. Idiopathische Verkalkung der Hirngefässe. Zentralblatt für Allgemeine Pathologie und Pathologische Anatomie. 1930;50:129–133.
- Ponomarev VV, Naumenko DV. Bolezn’ Fara: klinicheskaya kartina i podkhody k lecheniyu. Zhurnal nevrologii i psikhiatrii. 2004;(3):42–45. (In Russ).
- Yashin SS, Yunusova YR, Isakova NV, et al. Fahr’s Disease in a Patient with Acute Disorder of Cerebral Circulation. Modern Problems of Science and Education. 2020;(6):186–186. doi: 10.17513/spno.30457
- Tardio E, Roldan ML, Pedrola D, Hierro FR. Fahr disease and idiopathic pulmonary hemosiderosis in a 10 year old patient. An Esp Pediatr. 1980;13(7):599–604.
- Damulin IV, Andreev AD. Calcification of the basal ganglia: ethiopathogenetic, clinical, and therapeutic aspects. Rossiiskii meditsinskii zhurnal. 2020;26(5):326–330. (In Russ). doi: 10.17816/0869-2106-2020-26-5-326-330
- Khoreva MA, Smagina IV. Basal Ganglia Calcification. Aetiopathogenesis, Diagnostics, Clinical Manifestations. Russian neurological journal. 2020;25(4):4–13. (In Russ). doi: 10.30629/2658-7947-2020-25-4-4-13
- Geschwind DH, Loginov M, Stern JM. Identification of a Locus on Chromosome 14q for Idiopathic Basal Ganglia Calcification (Fahr Disease). The American Journal of Human Genetics. 1999;65(3):764-772. doi: 10.1086/302558
补充文件
