Serviço de Neurorradiologia, Hospital Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central (CHULC)
- XV Congresso Nacional da SPNR, 28-29 Junho 2019, Coimbra
- Neuroradiology (2020) 62:109–127. https://doi.org/10.1007/s00234-019-02317-7
INTRODUCTION: Cerebro-retinal microangiopathy with calcifications and cysts (CRMCC) or Coats plus syndrome is a rare multisystemic disorder. Common clinical features are retinal telangiectasias and exudates, intracranial progressive calcifications with leukoencephalopathy and parenchymal cysts, osteopenia and gastrointestinal bleeding. It has been reported an autosomal recessively inherited mutations in the CTC1 gene located on chromosome 17p13, which encodes the first component of the telomeric maintenance complex. The differential diagnosis include Labrune syndrome, which shares similar radiological features, but with no extra-neurological involvement and no CTC1 mutation.Yet, its primary pathogenesis seems to be similar, with obliterative angiopathy involving small vessels.
CASE REPORT: We report two cases of children with CRMCC. Case 1: 11 months´old baby with a history of intrauterine growth retardation and macrocephaly. Case 2: 4 months old baby with a premature birth at 32 weeks gestation and a slight cerebral retardation. In both cases the brain MRI showed asymmetric white matter changes, with hyperintense signal on T2-weighted sequences and large calcifications affecting mostly the thalamus and pons, but also in the cortico-subcortical regions. Vasogenic edema was present surrounding calcifications. Enhancement after gadolinium showed ring contrast of the cyst wall. In addition, they presented bilateral exudative vitreo-retinopathy, with a severe loss of vision. The 11 months´ old baby had no other typical CRMCC features, but the youngest one had also skeletal demineralization with pathological fractures and bone marrow abnormalities. CTC1 gene screening confirmed the diagnosis.
CONCLUSION: CRMCC is a rare disorder, radiologically characterized by extensive white matter degeneration, asymmetric cerebral calcifications and parenchymal cysts, along with extra-neurological features, the most likely being retinal angioma. This condition must be taken into account when discussing the differential diagnosis of cerebral calcifications in children. In the absence of other confirmatory tests, the combination of cysts, calcifications and leukoencephalopathy is highly suggestive of the diagnosis.
Palavras Chave: Cerebro-retinal microangiopathy; calcifications; cysts; Coats plus syndrome; MRI