Figura 1. Tomografía axial computarizada que confirma la presencia de abundantes calcificaciones bilaterales, no del todo simétricas, en los núcleos grises de los ganglios basales y dentados del cerebelo, así como parenquimatosas periventriculares que se asientan en la sustancia blanca cerebral.
Figura 2. Resonancia magnética donde se observa la presencia de un quiste aracnoideo en la región pineal asociado a pequeños quistes adyacentes al ventrículo lateral izquierdo, y profusas calcificaciones bastante simétricas talámicas bilaterales en la sustancia blanca subcortical parietoccipital, ambos hemisferios cerebelosos y la protuberancia.
Figura 3. Fondo de ojo izquierdo que muestra exudación dura que alcanza la mácula, vasos de aspecto telangiectásico en la periferia temporal que se horizontalizan y shunts vasculares.
Infant with intracranial calcifications and retinopathy
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.
Key words. Brain cysts. Coats plus syndrome. CTC1 gene. Hemiparesis. Intracranial calcifications. Retinopathy.