Infant with intracranial calcifications and retinopathy
Correspondencia: Dr. Juan Hidalgo Sanz. Servicio de Pediatría. Hospital Universitario Miguel Servet. Paseo Isabel la Católica, 1-3. E-50009 Zaragoza.
E-mail: jhidalgo@salud.aragon.es
Introduction: Intracranial calcifications can have a number of different causes, and the distribution and characteristics they present in neuroimaging can orient the specialist towards one or another. It is important to rule out the most frequent entities that are accompanied by intracranial calcifications, but other more remote genetic causes, such as Coats plus syndrome, should not be overlooked. Case report: Ex-premature female Infant with a gestational age of 34 weeks, diagnosed with retinopathy at 9 months after presenting strabismus. At 2 years of age, an MRI scan was performed for right hemiparesis, in which an image suggestive of a neoplasm was initially observed. Upon completion of the study with a cranial computed tomography scan, extensive calcifications were observed predominantly in the basal ganglia along with cystic lesions. After ruling out the most frequent causations of intracranial calcifications, the association between the retinopathy and the neurological features was established, and Coats plus syndrome was confirmed by a genetic study that revealed the presence of two hitherto unreported variants in heterozygosis in the CTC1 gene. Conclusion: Coats plus syndrome is an extraordinarily rare autosomal recessive disease, caused by mutations in the CTC1 gene, which involves the appearance of retinal telangiectasias, brain cysts, calcifications in deep nuclei and leukoencephalopathy, as well as other bone and gastrointestinal conditions. Treatment is symptomatic and the disease has a poor prognosis.
Caso clínico Lactante exprematura de 34 semanas de edad gestacional, diagnosticada de retinopatía a los 9 meses al presentar estrabismo. A los 2 años de edad se realizó una resonancia magnética por hemiparesia derecha, en la que se observó una imagen sugestiva inicialmente de neoplasia. Al completar el estudio con una tomografía computarizada craneal, se observaron extensas calcificaciones de predominio en los ganglios basales y lesiones quísticas. Tras descartarse las etiologías más frecuentes de calcificaciones intracraneales, se llegó a la asociación de la retinopatía y la clínica neurológica y se confirmó el síndrome de Coats plus mediante estudio genético, que reveló la presencia de dos variantes en heterocigosis no documentadas hasta la fecha en el gen CTC1.
Conclusión El síndrome de Coats plus es una enfermedad autosómica recesiva extraordinariamente infrecuente, provocada por mutaciones en el gen CTC1, que supone la aparición de telangiectasias retinianas, quistes cerebrales, calcificaciones en los núcleos profundos y leucoencefalopatía, además de otras afecciones óseas y gastrointestinales. El tratamiento es sintomático y la enfermedad tiene un mal pronóstico.
