Nguyen Eric B, Kim Erica Y, Malwane Michelle I, Trejo Sergio, Cucalón-Calderón José R
Pediatrics, University of Nevada Reno School of Medicine, Reno, USA.
Cureus. 2022 Jun 10;14(6):e25822. doi: 10.7759/cureus.25822. eCollection 2022 Jun.
Osteogenesis imperfecta (OI) is an inherited connective tissue disorder with variable clinical manifestations involving many structures and organ systems, leading to characteristic presentations such as low bone mineral density (BMD), vertebral compression fractures, hearing loss, and blue sclerae. Even within the same family, individuals with the same inherited genotype may have differential presentations due to variable expressivity. Early diagnosis of OI in the pediatric population may allow for earlier treatment and interprofessional interventions. This case describes a minority female infant who initially presented with bilateral complexion-associated melanosis (CAM) inclusions in her eyes. The appearance of her inclusions was reminiscent of the blue sclera seen in OI; however, there was no clinical suspicion for OI on birth, developmental, and family histories. Her growth and development were unremarkable at all well-child checks until her three-year well-child check. It was then discovered that she suffered multiple long bone fractures due to low trauma, vertebral compression fractures, and kyphoscoliosis. Due to the occurrence of these fragility fractures, she was given a clinical diagnosis of osteoporosis with pending genetic testing for osteogenesis imperfecta. It was later discovered that there was, in fact, an extensive history of recurrent childhood fractures in the patient's brother, mother, and numerous maternal relatives. Our case demonstrates the greater need for certified medical interpretation services to obtain clear past medical and family history, especially in the face of language barriers and low health literacy, in conjunction with clinical findings, i.e., CAM, to guide the differential diagnosis and subsequent management appropriately.
成骨不全症（OI）是一种遗传性结缔组织疾病，临床表现多样，累及多个结构和器官系统，导致诸如低骨矿物质密度（BMD）、椎体压缩性骨折、听力丧失和巩膜发蓝等特征性表现。即使在同一家族中，具有相同遗传基因型的个体也可能因表达可变而有不同表现。儿科人群中OI的早期诊断可实现更早的治疗和跨专业干预。本病例描述了一名少数族裔女婴，其最初表现为双眼存在与肤色相关的黑素沉着（CAM）包涵体。其包涵体的外观让人联想到OI中所见的巩膜发蓝；然而，根据出生、发育和家族史，临床上并未怀疑其患有OI。在三岁健康检查之前，她在所有的健康检查中生长发育均无异常。但在三岁健康检查时，发现她因低创伤导致多处长骨骨折、椎体压缩性骨折和脊柱侧弯。由于这些脆性骨折的发生，她被临床诊断为骨质疏松症，同时等待进行成骨不全症的基因检测。后来发现，事实上，患者的兄弟、母亲以及众多母系亲属在儿童时期都有反复骨折的广泛病史。我们的病例表明，更需要有资质的医学口译服务来获取清晰的既往病史和家族史，尤其是在存在语言障碍和健康素养较低的情况下，并结合临床发现，即CAM，以恰当地指导鉴别诊断和后续治疗。
