Dibi A, El Fahime E L, Mouane N, Dafiri R, Bentahila A
Service de pédiatrie IV, hôpital d'enfants de Rabat, faculté de médecine et de pharmacie de Rabat, université Mohamed V-Suissi, Rabat, Maroc.
Service analyses biologiques/PGF/UATRS/CNRST, BP 8027 NU, 10102 Rabat Maroc.
Arch Pediatr. 2016 Jun;23(6):591-4. doi: 10.1016/j.arcped.2016.03.010. Epub 2016 Apr 25.
Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive connective tissue disorder, characterized by calcification and progressive fragmentation of elastic fibers. Gastrointestinal lesions are rare in children and may be responsible for serious complications. This article reports two pediatric cases of PXE revealed by gastrointestinal bleeding.
An 11-year-old boy and a 12-year-old girl were hospitalized for gastrointestinal bleeding. Digestive endoscopy showed hemorrhagic gastroenteritis bulbitis in the first case and it was normal in the second. Abdominal ultrasound showed diffuse linear calcifications in both cases. The diagnosis of PXE was retained based on the presence of vascular disease in both patients, a skin lesion in the girl, and an ocular lesion in the boy. The genetic study confirmed the diagnosis of PXE identifying two ABCC6 mutations in the composite state in the boy: the c.2263G> A (p.G755R) mutation on exon 18 and the c.3421C> T (pR1141X) mutation on exon 24 and the 4021G> A (R1164Q) mutation in the homozygous state of ABCC6 exon 24 in the girl.
Digestive manifestations are unusual ; however, pseudoxanthoma elasticum should be considered in all cases of gastrointestinal bleeding for no apparent reason. Early diagnosis allows prevention and measures to control the risk factors and limit the progression of complications.
弹性假黄瘤（PXE）是一种罕见的常染色体隐性结缔组织疾病，其特征为弹性纤维钙化和进行性断裂。胃肠道病变在儿童中较为罕见，可能导致严重并发症。本文报道两例因胃肠道出血而发现的儿童弹性假黄瘤病例。
一名11岁男孩和一名12岁女孩因胃肠道出血住院。消化内镜检查显示，第一例为出血性肠胃炎球炎，第二例正常。腹部超声显示两例均有弥漫性线性钙化。基于两名患者均存在血管疾病、女孩有皮肤病变以及男孩有眼部病变，确诊为弹性假黄瘤。基因研究证实了弹性假黄瘤的诊断，在男孩中鉴定出复合状态下的两个ABCC6突变：外显子18上的c.2263G>A（p.G755R）突变和外显子24上的c.3421C>T（pR1141X）突变，在女孩中ABCC6外显子24的纯合状态下有4021G>A（R1164Q）突变。
消化系统表现并不常见；然而，对于所有无明显原因的胃肠道出血病例，均应考虑弹性假黄瘤。早期诊断有助于预防并采取措施控制危险因素，限制并发症的进展。
