Cantú伴有肢端肥大症特征、多种内分泌病变和感染易感性的综合征。

JCEM case reports Pub Date : 2025-04-15 eCollection Date: 2025-05-01 DOI:10.1210/jcemcr/luaf068
David Nygren, Ulrika Moll, Oscar Braun, Ulf Karlsson, Göran Jönsson
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引用次数: 0

摘要

Cantú综合征包括胎儿羊水过多、先天性多毛症和巨大儿。显著的特征包括肢端巨状体特征,宽鼻桥和大舌以及心脏异常,包括动脉导管未闭。我们报告一例男性患者,儿童期出现心脏异常,但在多年的非典型症状(如多种内分泌病变和感染易感性)后,在成年期被诊断为该综合征。他在童年早期做过动脉导管未闭手术。成年后,他患上了特发性心包炎。进行了广泛的风湿病学调查,同时发现了几种内分泌疾病。这些包括甲状腺炎和随后的甲状腺功能减退,特发性部分低皮质醇症和生长激素不足。此外,他患有轻度中性粒细胞减少症,并因化脓性链球菌感染两次住院。免疫缺陷筛查未发现特异性原发性免疫缺陷,但在菌血症期间可观察到短暂性中性粒细胞减少、CD8+效应记忆T细胞计数低以及淋巴细胞反应。诊断是在三全基因组测序鉴定出ABCC9基因(c.3460C > T;p)的致病性错义变体后做出的。(Arg1154Trp))引起Cantú综合征。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Cantú Syndrome With Acromegaloid Features, Multiple Endocrinopathies, and Infection Susceptibility.

Cantú syndrome involves fetal polyhydramniosis, congenital hypertrichosis, and macrosomia. Distinctive features include acromegaloid features with broad nasal bridge and macroglossia as well as cardiac abnormalities, including patent ductus arteriosus. We present a case in a male patient, who presented with cardiac abnormalities in childhood, but was diagnosed with the syndrome in adulthood after many years of atypical symptoms such as multiple endocrinopathies and infection susceptibility. He had surgery for a patent ductus arteriosus in early childhood. During adulthood, he developed idiopathic pericarditis. Extensive rheumatological investigations were made, and in parallel, several endocrinopathies were found. These included thyroiditis with subsequent hypothyroidism, idiopathic partial hypocortisolism, and GH insufficiency. In addition, he had mild neutropenia and required hospitalization twice because of Streptococcus pyogenes infections. Immunodeficiency screening has not revealed a specific primary immunodeficiency, yet transient neutropenia, low count of CD8+ effector memory T cells, as well as lymphocyte responses, was seen during bacteremia. The diagnose was made after a trio-whole genome sequencing identified a pathogenic missense variant of the gene ABCC9 (c.3460C > T;p. (Arg1154Trp)) causing Cantú syndrome.

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