Bisserbe A, Tertian G, Buffet C, Turhan A, Lambotte O, Nasser G, Alvin P, Tardieu M, Riant F, Bergametti F, Tournier-Lasserve E, Denier C
Université Paris-Sud, 63, rue Gabriel-Péri, 94276 Le Kremlin-Bicêtre cedex, France; Department of pediatrics, CHU de Bicêtre, 78, rue du Général-Leclerc, 94275 Le Kremlin-Bicêtre cedex, France.
Department of hematology, CHU de Bicêtre, 78, rue du Général-Leclerc, 94275 Le Kremlin-Bicêtre cedex, France.
Rev Neurol (Paris). 2015 May;171(5):445-9. doi: 10.1016/j.neurol.2015.01.566. Epub 2015 Apr 2.
Cerebro-retinal microangiopathy with calcifications and cysts (CRMCC) or Coats plus syndrome is a pleiotropic disorder affecting the eyes, brain, bone and gastrointestinal tract. Its primary pathogenesis involves small vessel obliterative microangiopathy. Recently, autosomal recessively inherited mutations in CTC1 have been reported in CRMCC patients. We herein report an adolescent referred to our hospital following new seizures in a context of an undefined multisystem disorder. Cerebral imaging disclosed asymmetrical leukopathy, intracranial calcifications and cysts. In addition, he presented other typical CRMCC features i.e. a history of intrauterine growth retardation, skeletal demineralization and osteopenia, bilateral exudative vitreo-retinopathy reminiscent of Coats disease, recurrent gastrointestinal hemorrhages secondary to watermelon stomach and variceal bleeding of the esophagus due to idiopathic portal hypertension and telangiectatic and angiodysplasic changes in the small intestine and colon, and anemia due to recurrent bleeding and bone marrow abnormalities. The patient was diagnosed with Coats plus syndrome. CTC1 gene screening confirmed the diagnosis with the identification of heterozygous deleterious mutations. CRMCC due to CTC1 mutations has a broad clinical expressivity. Our case report illustrates the main possible associated phenotypes and their complications, demonstrating the need for a careful etiological search in order to initiate appropriate therapeutic and preventive measures.
伴有钙化和囊肿的脑视网膜微血管病（CRMCC）或科茨加综合征是一种多系统疾病，累及眼睛、大脑、骨骼和胃肠道。其主要发病机制涉及小血管闭塞性微血管病。最近，在CRMCC患者中报道了CTCl基因的常染色体隐性遗传突变。我们在此报告一名青少年，在患有不明多系统疾病的情况下出现新的癫痫发作后转诊至我院。脑部影像学检查显示不对称性白质病变、颅内钙化和囊肿。此外，他还表现出其他典型的CRMCC特征，即宫内生长迟缓史、骨骼脱矿质和骨质减少、双侧渗出性玻璃体视网膜病变，类似科茨病、继发于西瓜胃的反复胃肠道出血以及由于特发性门静脉高压导致的食管静脉曲张出血，以及小肠和结肠的毛细血管扩张和血管发育异常，还有因反复出血和骨髓异常导致的贫血。该患者被诊断为科茨加综合征。CTCl基因筛查通过鉴定杂合有害突变证实了诊断。由CTCl突变引起的CRMCC具有广泛的临床表型。我们的病例报告阐述了主要可能相关的表型及其并发症，表明需要进行仔细的病因学检查以便启动适当的治疗和预防措施。
