Сase of congenital cataract development in a child with Farh disease

Abstract

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.

Keywords

Fahr disease / congenital cataract / сhildren

References

[1] Yakhno NN. Fahr disease. Voprosnik nevrologicheskiy. 2001;(4):17–22. (In Russ).

[2] Яхно Н.Н. Болезнь Фара // Вопросник неврологический. 2001. № 4. С. 17–22.

[3] 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).

[4] Ковалева Я.Б., Антипова Л.Н., Прохорова Е.С. Симметричный билатеральный итрацеребральный кальциноз (болезнь Фара) // Вестник МУЗ ГБ № 2. 2011. Т. 5, № 17. С. 52–64.

[5] Tishchenko VN, Tishchenko GV. Fahr disease in postmortem examination (case report). Problemy zdorov’’ya i ekologii. 2013;2(36):146–150. (In Russ).

[6] Тищенко В.Н., Тищенко Г.В. Болезнь Фара при патологоанатомическом исследовании (случай из практики) // Проблемы здоровья и экологии. 2013. Т. 2, № 36. С. 146–150.

[7] Ivanchenko EN, Shedenko MI, Spizharskii EV, et al. Klinicheskii sluchai bolezni Fara. Omskii psikhiatricheskii zhurnal. 2016;3(9):11–15. (In Russ).

[8] Иванченко Е.Н., Шеденко М.И., Спижарский Е.В., и др. Клинический случай болезни Фара // Омский психиатрический журнал. 2016. Т. 3, № 9. С. 11–15.

[9] 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).

[10] Матвеева Т.В., Овсянникова К.С. Первичная (болезнь фара) и вторичная кальцификация базальных ганглиев (клиническое наблюдение) // Неврологический вестник. 2016. Т. 48, № 2. С. 57–62.

[11] 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).

[12] Козлов С.И., Алексеева Л.А. Болезнь Фара. Клиническое наблюдение распространенной идиопатической кальцификации подкорковых структур, коморбидной с гипопаратиреозом // Омский психиатрический журнал. 2018. Т. 4, № 18. С. 14–17.

[13] Maghraoul A, Birouk N, Zaim A, et al. Fahr syndrome and dysparathytoidism. Presse Med. 1995;24(28):1301–1304.

[14] Maghraoul A., Birouk N., Zaim A., et al. Fahr syndrome and dysparathytoidism // Presse Med. 1995. Vol. 24, N 28. P. 1301–1304.

[15] Cyseo A, Boldizsar F, Gellert M. Electron microscopic study of striatodental calcification (Fahr). Acta Neuropathol. 1975;31(4):305–313. doi: 10.1007/BF00687925

[16] Cyseo A., Boldizsar F., Gellert M. Electron microscopic study of striatodental calcification (Fahr) // Acta Neuropathol. 1975. Vol. 31, N 4. P. 305–313. doi: 10.1007/BF00687925

[17] Fahr T. Idiopathische Verkalkung der Hirngefässe. Zentralblatt für Allgemeine Pathologie und Pathologische Anatomie. 1930;50:129–133.

[18] Fahr T. Idiopathische Verkalkung der Hirngefässe // Zentralblatt für Allgemeine Pathologie und Pathologische Anatomie. 1930. Vol. 50. P. 129–133.

[19] Ponomarev VV, Naumenko DV. Bolezn’ Fara: klinicheskaya kartina i podkhody k lecheniyu. Zhurnal nevrologii i psikhiatrii. 2004;(3):42–45. (In Russ).

[20] Пономарев В.В., Науменко Д.В. Болезнь Фара: клиническая картина и подходы к лечению // Журнал неврологии и психиатрии. 2004. № 3. С. 42–45.

[21] 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

[22] Яшин С.С., Юнусова Ю.Р., Исакова Н.В., и др. Болезнь Фара у пациентки с острым нарушением мозгового кровообращения // Современные проблемы науки и образования. 2020. № 6. С. 186–186. doi: 10.17513/spno.30457

[23] 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.

[24] Tardio E., Roldan M.L., Pedrola D., Hierro F.R. Fahr disease and idiopathic pulmonary hemosiderosis in a 10 year old patient // An Esp Pediatr. 1980. Vol. 13, N 7. P. 599–604.

[25] 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

[26] Дамулин И.В., Андреев А.Д. Кальцификация базальных ганглиев: этиопатогенетические, клинические и терапевтические аспекты// Российский медицинский журнал. 2020. Т. 26, № 5. С. 326–330. doi: 10.17816/0869-2106-2020-26-5-326-330

[27] 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

[28] Хорева М.А., Смагина И.В. Кальцификация базальных ганглиев. Этиопатогенез, диагностика, клинические проявления // Российский неврологический журнал. 2020. Т. 25, № 4. С. 4–13. doi: 10.30629/2658-7947-2020-25-4-4-13

[29] 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

[30] Geschwind D.H., Loginov M., Stern J.M. Identification of a Locus on Chromosome 14q for Idiopathic Basal Ganglia Calcification (Fahr Disease) // The American Journal of Human Genetics. 1999. Vol. 65, N 3. P. 764–772. doi: 10.1086/302558

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