Arredondo Montero Javier, Bronte Anaut Mónica, Ruiz de Azúa Yerani, Morales Garofalo Lourdes
Department of Pediatric Surgery, 83011Complejo Hospitalario de Navarra, Pamplona, Spain.
Department of Pathology, 83011Complejo Hospitalario de Navarra, Pamplona, Spain.
Pediatr Dev Pathol. 2022 May-Jun;25(3):321-326. doi: 10.1177/10935266211056812. Epub 2021 Dec 8.
Diaphanospondylodysostosis is an extremely rare, recessively inherited, perinatal lethal skeletal disorder associated with BMPER gene mutations. Clinically it is characterized by defects in costovertebral ossification, absent ribs, hypertelorism, short nose with depressed nasal bridge, low-set ears, and short neck. At the extraosseous level, the most frequent pathologic finding is nephroblastomatosis with multicystic kidneys. We present the case of a child of non-consanguineous parents who died at 2 months of age in our center. Autopsy showed a marked costovertebral ossification defect, perilobar nephrogenic rests and loss of white matter with periventricular leukomalacia. After genetic study, the diagnosis of diaphanospondylodysostosis was confirmed. A previously undescribed germinal mutation in the BMPER gene (c.576 + 2dupT) was found.
透照性脊椎发育不全是一种极其罕见的、隐性遗传的围产期致死性骨骼疾病，与BMPER基因突变有关。临床上，其特征为肋椎骨化缺陷、肋骨缺如、眼距增宽、鼻梁凹陷的短鼻、低位耳和短颈。在骨外层面，最常见的病理发现是肾母细胞瘤病伴多囊肾。我们报告了一例非近亲结婚父母所生的患儿，该患儿在我们中心2个月大时死亡。尸检显示明显的肋椎骨化缺陷、叶周肾源性残余灶以及伴有脑室周围白质软化的白质丢失。经过基因研究，确诊为透照性脊椎发育不全。发现了BMPER基因中一个先前未描述的胚系突变（c.576 + 2dupT）。
