Gozum Giselle, Bogdan Michelle, Sundaram Revathy, Kulpa Jolanta, Narula Pramod, Agdere Levon
Department of Pediatrics, NewYork Presbyterian-Brooklyn Methodist Hospital, Brooklyn, NY, USA.
Am J Case Rep. 2020 Oct 20;21:e926821. doi: 10.12659/AJCR.926821.
BACKGROUND Bone health is influenced by multiple factors, including genetic disorders such as osteogenesis imperfecta (OI) and sickle cell disease (SCD). OI is a genetic disorder caused by mutations in genes that encode type 1 collagen. Type 1 collagen synthesizes bones, skin, and other connective tissues. Defective synthesis can lead to brittle bones and other abnormalities. Patients with OI present with spontaneous fractures. SCD is an autosomal-recessive disorder resulting in a major hemolytic anemia. The formation of sickle hemoglobin results in increased blood viscosity and sickling of red blood cells, which causes painful vaso-occlusive crisis in bones and joints, acute chest syndrome, and stroke. CASE REPORT We present the case of an infant with a dual diagnosis of OI and SCD. The patient was born at 26 6/7 weeks gestational age to a mother who had sickle trait. The infant was admitted to the Neonatal Intensive Care Unit for prematurity and respiratory distress with a clinical course that was complicated by other comorbidities. Newborn screening revealed a diagnosis of SCD-SS type. At 83 days of life, the infant presented with swelling and tenderness of the left leg. Imaging revealed a non-displaced fracture of the femoral shaft. The patient was evaluated for OI and genetic testing confirmed the diagnosis of OI type 1. CONCLUSIONS An association between SCD and OI is rare. The impact of these 2 major diagnoses on clinical features and outcome as well as challenges to care remains to be seen.
骨骼健康受多种因素影响，包括诸如成骨不全（OI）和镰状细胞病（SCD）等遗传性疾病。成骨不全是一种由编码I型胶原蛋白的基因突变引起的遗传性疾病。I型胶原蛋白合成骨骼、皮肤和其他结缔组织。合成缺陷可导致骨骼脆弱和其他异常。成骨不全患者会出现自发性骨折。镰状细胞病是一种常染色体隐性疾病，会导致严重的溶血性贫血。镰状血红蛋白的形成会导致血液粘度增加和红细胞镰变，从而引发骨骼和关节疼痛性血管阻塞危象、急性胸部综合征和中风。病例报告：我们报告一例同时诊断为成骨不全和镰状细胞病的婴儿病例。该患者在孕26 6/7周时出生，母亲有镰状细胞性状。婴儿因早产和呼吸窘迫入住新生儿重症监护病房，临床过程因其他合并症而复杂化。新生儿筛查显示诊断为镰状细胞病SS型。在出生83天时，婴儿出现左腿肿胀和压痛。影像学检查显示股骨干无移位骨折。对该患者进行了成骨不全评估，基因检测确诊为I型成骨不全。结论：镰状细胞病与成骨不全之间的关联罕见。这两种主要诊断对临床特征和结局的影响以及护理挑战仍有待观察。
