Manifestaciones y manejo del síndrome de Coats plus en la infancia: reporte de caso

• Autores: Andrés Biescas Merino, Virginia Giménez Molina, Ana Cristina Galindo García, Ángel Sicilia Camarena, María Cortés Costa, Javier Sicilia Camarena
• Localización: Revista Sanitaria de Investigación, ISSN-e 2660-7085, Vol. 6, Nº. 9, 2025
• Idioma: español
• Enlaces
  • Texto completo
• Resumen
  • español

    El Síndrome de Coats Plus, también denominado microangiopatía cerebroretiniana con calcificaciones y quistes, es una enfermedad genética multisistémica extremadamente rara, de herencia autosómica recesiva, causada por mutaciones en el gen CTC1. Con menos de 50 casos reportados mundialmente, presenta una prevalencia menor a 1 por millón de habitantes. Se caracteriza por retinopatía exudativa bilateral, calcificaciones cerebrales, leucoencefalopatía, alteraciones óseas y hemorragia gastrointestinal potencialmente fatal. Las manifestaciones oftalmológicas incluyen telangiectasias retinianas, exudados masivos y desprendimiento de retina, frecuentemente siendo el síntoma inicial. A nivel neurológico, causa deterioro cognitivo progresivo, epilepsia y alteraciones motoras asociadas a calcificaciones características en ganglios basales y cerebelo.

    Presentamos una paciente de 9 años con seguimiento desde 2018, que desarrolló retinopatía exudativa bilateral requiriendo múltiples terapias (crioterapia, fotocoagulación láser, vitrectomía y antiangiogénicos). Paralelamente desarrolló retraso intelectual progresivo hasta grado severo. La neuroimagen reveló calcificaciones groseras cerebrales confirmando el diagnóstico. La evolución ha sido oscilante, con períodos de remisión prolongados y episodios de reactivación exudativa que requieren terapia intensiva. Este caso resalta la importancia del reconocimiento temprano, el abordaje multidisciplinario y las limitaciones terapéuticas actuales en esta patología tan infrecuente y desconocida.

  • English

    Coats plus syndrome, also known as cerebroretinal microangiopathy with calcifications and cysts (CRMCC), is an extremely rare autosomal recessive multisystem genetic disorder caused by CTC1 gene mutations. With fewer than 50 cases reported worldwide, it has a prevalence of less than 1 per million inhabitants. It is characterized by bilateral exudative retinopathy, cerebral calcifications, leukoencephalopathy, bone abnormalities, and potentially fatal gastrointestinal bleeding. Ophthalmological manifestations include retinal telangiectasias, massive exudates, and retinal detachment, often representing the initial symptom. Neurologically, it causes progressive cognitive deterioration, epilepsy, and motor disturbances associated with characteristic calcifications in basal ganglia and cerebellum.

    We present a 9-year-old girl followed since 2018, who developed bilateral exudative retinopathy requiring multiple therapies (cryotherapy, laser photocoagulation, vitrectomy and antiangiogenic therapies). She simultaneously developed progressive intellectual delay reaching severe grade. Neuroimaging revealed sifnificant cerebral calcifications confirming the diagnosis. The course has been oscillating, with prolonged remission periods and episodes of exudative reactivation requiring intensive therapy. This case highlights the importance of early recognition, multidisciplinary approach, and current therapeutic limitations in this rare and poorly understood condition.

• Referencias bibliográficas
  • Poulter JA, Frio TR, van Heyningen V, et al. Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nat...
  • Anderson BH, Kasher PR, Mayer J, et al. Mutations in CTC1, encoding conserved telomere maintenance component 1, cause cerebroretinal microangiopathy...
  • Polvi A, Linnankivi T, Kivela T, et al. Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal...
  • Keller RB, Gagne KE, Usmani GN, et al. CTC1 Mutations in a patient with dyskeratosis congenita. Pediatr Blood Cancer. 2012;59(2):311-314.
  • Price CM, Boltz KA, Chaiken MF, et al. Evolution of CST function in telomere maintenance. Cell Cycle. 2010;9(16):3157-3165.
  • Stewart JA, Wang F, Chaiken MF, et al. Human CST promotes telomere duplex replication and general replication restart after fork stalling....
  • Crow YJ, McMenamin J, Haenggeli CA, et al. Coats’ plus syndrome and mutation in CTC1. Am J Med Genet A. 2019;179(12):2351-2364.
  • Labrune P, Lacroix C, Goutieres F, et al. Extensive brain calcifications, leukodystrophy, and formation of bone cysts: a new progressive disorder...
  • Briggs TA, Lokulo-Sodipe K, Chandler KE, et al. Cerebrovascular disease in children with Coats plus syndrome. Eur J Paediatr Neurol. 2016;20(3):443-447.
  • Pizzino A, Tamassia S, Ariani F, et al. Novel biallelic mutations in CTC1 identified by whole exome sequencing in a patient with cerebroretinal...
  • Zhao XY, Chen XF, Zhang LY, et al. Clinical characteristics and treatment of Coats disease in Chinese patients. Retina. 2015;35(11):2326-2334.
  • Morris B, Foot B, Mulvihill A. A population-based study of Coats disease in the United Kingdom I: epidemiology and clinical features. Eye...
  • Blair MP, Ulrich JN, Elizabeth Hartnett M, et al. Peripheral retinal nonperfusion and treatment response in Coats disease. Retina. 2013;33(6):1134-1141.
  • Sen M, Honavar SG, Sharma S, et al. Coats’ disease: an overview of classification, management and outcomes. Indian J Ophthalmol. 2019;67(3):299-307.
  • Kevelam SH, Steenweg ME, Srivastava S, et al. Update on Leukodystrophies: A Historical Perspective and Adapted Definition. Neuropediatrics....
  • Shields JA, Shields CL, Honavar SG, et al. Classification and management of Coats disease: the 2000 Proctor Lecture. Am J Ophthalmol. 2001;131(5):572-583.
  • Ramasubramanian A, Shields CL. Bevacizumab for Coats’ disease with exudative retinal detachment and risk of vitreoretinal traction. Br J Ophthalmol....