Patil P L, Rao B Varun
J Assoc Physicians India. 2013 Jun;61(6):415-7.
A 16 yr old female presented with generalized weakness and easy fatigability since 2 months. Her medical history included that she had sickle cell disease (ss pattern) on regular treatment. She denied smoking and consumption of alcohol. She had adequate calcium intake and her menstrual history was non-contributory. History of right tibial diaphysial fracture 1 year back followed by refracture at the same site 6 months later. On examination patient was 146 cm tall & weighed 48 kg. She had pallor, blue-grey sclera,scar mark of previous operation on right leg. Her mother and two maternal aunts also had blue-gray sclera. She had normal dentition and other systems were normal. Radiological screening showed diffuse osteopenia of all visualized skeleton, biconcave vertebral bodies in lumbar spine, Old healed fracture of right tibial diaphysis with intra-medullary nail in situ, wormian bones seen along the lambdoid suture, old healed fracture with sclerosis noted involving diaphysis of first metatarsal. Secondary causes of osteoporosis were ruled out. Skeletal involvement is sickle cell disease is usually in the form of avascular necrosis, dactylitis, joint effusions or osteomyelitis however osteoporosis and long bone fractures are not known in sickle cell disease. Owing to high index of suspicion a diagnosis of osteogenesis imperfecta was pursued, since the patient presented at 16 years age with relatively minor symptoms type 1A osteogenesis imperfecta (mildest form) was established. Systemic screening for disease complications included osteopontogram, audiogram and consultation with ophthalmologist and geneticist. Therapy with calcium and vit D was initiated and an in depth discussion regarding biphosphonates was pursued. Anaemia was corrected with blood transfusion and treatment of sickle cell disease was continued. Family screening was offered. Fractures particularly adults older than 45 are associated with osteoporosis. This case illustrates the importance of family history, fracture history and clinical correlation when assessing patients with osteoporosis. Mild OI most often presents after infancy and should be considered whenever children or adults have recurrent fractures. Early diagnosis of this disease by family physicians will enable initiation of therapy as well as patients education regarding management of modifiable risk factors linked with osteoporosis (e.g. diet, smoking, alcohol). Genetic counseling and family screening could also be offered.
一名16岁女性自2个月以来出现全身无力和易疲劳症状。她的病史包括患有镰状细胞病（ss型），正在接受常规治疗。她否认吸烟和饮酒。她钙摄入充足，月经史无特殊意义。1年前右胫骨干骨折，6个月后在同一部位再次骨折。体格检查时，患者身高146厘米，体重48公斤。她面色苍白，巩膜蓝灰色，右腿有既往手术的疤痕。她的母亲和两位姨妈也有蓝灰色巩膜。她牙齿正常，其他系统正常。影像学筛查显示所有可见骨骼弥漫性骨质减少，腰椎椎体双凹形，右胫骨干陈旧性愈合骨折且髓内钉在位，沿人字缝可见缝间骨，第一跖骨干陈旧性愈合骨折伴骨质硬化。排除了骨质疏松的继发性病因。镰状细胞病的骨骼受累通常表现为缺血性坏死、指（趾）炎、关节积液或骨髓炎，然而骨质疏松和长骨骨折在镰状细胞病中并不常见。由于高度怀疑，进行了成骨不全的诊断，鉴于该患者16岁时出现相对较轻的症状，确诊为1A型成骨不全（最轻型）。对疾病并发症的系统筛查包括骨密度检查、听力图检查以及咨询眼科医生和遗传学家。开始给予钙和维生素D治疗，并深入讨论了双膦酸盐类药物。通过输血纠正贫血，并继续镰状细胞病的治疗。提供了家庭筛查。骨折，尤其是45岁以上的成年人骨折与骨质疏松有关。本病例说明了在评估骨质疏松患者时家族史、骨折史和临床相关性的重要性。轻度成骨不全最常在婴儿期后出现，当儿童或成人有反复骨折时均应考虑。家庭医生对该病的早期诊断将有助于开始治疗，并对患者进行与骨质疏松相关的可改变危险因素（如饮食、吸烟、饮酒）管理的教育。还可提供遗传咨询和家庭筛查。
