Bone scan appearance of osteogenesis imperfecta in an adult

An adult patient with undiagnosed osteogenesis imperfecta presented with a history of multiple fractures. Radiographs could not definitively diagnose the underlying abnormality. The radionuclide bone image suggested the presence of a skeletal dysplasia, and prompted the histopathologic review of fracture fragments. The scan appearance of osteogenesis imperfecta in the adult and possible underlying mechanisms for the radiopharmaceutical distribution are discussed.     

Metaphyseal fractures in osteogenesis imperfecta.

Forty-one children with osteogenesis imperfecta have been reviewed. A minority (7/41) showed small metaphyseal fractures, resembling those seen in non-accidental injury, but in all of these there was obvious generalized bone disease so that confusion with non-accidental injury did not occur.     

The radiology of osteogenesis imperfecta]

The term "osteogenesis imperfecta" refers to a heterogeneous group of hereditary diseases characterized by osteopenia, increased bone fragility, blue sclerae and dentinogenesis imperfecta. The abnormal synthesis of type-I collagen is responsible for the pathologic changes occurring not only in bone, but also in skin, tendons and ligaments, sclerae and teeth. The clinical and radiographic features of 5 cases (2 males and 3 females; age range: 1 month to 29 years) were analyzed. The patients were unrelated with each other. The diagnosis of the different types of osteogenesis imperfecta is as difficult as the identification of the various genotypes which are responsible for the different clinical pictures. The most characteristic radiographic pattern--which is observed in any type of the disease--consists in osteopenia associated, in most cases, with multiple fractures and deformities--e.g., micromelia, large metaphysis, archon long bones. Typically, "pop corn" calcifications are observed in both epiphysis and metaphysis of long bones. Dentinogenesis imperfecta is one of the most significant clinical patterns, and it can be the only bone abnormality. The prognosis of osteogenesis imperfecta is as varied as its genetics--i.e., the fractures discovered at birth are not necessarily a negative prognostic sign.     

Osteogenesis imperfecta type II: prenatal sonographic diagnosis

Sonograms of fetuses at risk for congenital lethal osteogenesis imperfecta (osteogenesis imperfecta type II) were retrospectively reviewed blindly and correlated with pregnancy outcomes. Six of eight cases of type II osteogenesis imperfecta were correctly diagnosed with use of the proposed criteria of multiple fractures, demineralization of the calvaria, and femoral length more than 3 standard deviations below the mean for gestational age. The two cases not diagnosed had sonographic abnormalities but did not meet all three criteria. Among 18 pregnancies genetically at risk for the disease but with normal outcomes, all sonograms were normal, meeting none of the proposed criteria. Among an additional 25 fetuses with osteochondrodysplasias, no case satisfied all three of the proposed diagnostic criteria. With use of strict standards for the diagnosis of type II osteogenesis imperfecta, this disease can be distinguished from other fetal skeletal abnormalities. In a pregnancy at risk for recurrence of osteogenesis imperfecta, a normal sonogram after 17 weeks excludes this lethal condition.     

Isolated avulsion fracture of the lesser tuberosity of the humerus: report of two cases

Isolated avulsion fractures of the lesser tuberosity of the humerus are exceptionally rare. Two cases are reported here, each involving a 12-year-old boy. The mechanism of injury appears to be a strong external rotatory force applied while the arm is at maximum external rotation and approximately 60 degrees of abduction. In children and adolescents the fracture most likely occurs through the apophyseal plate of the lesser tuberosity (traction epiphysis). In adults, clinical differentiation from the far more common calcific peritendinitis of the rotator cuff can be difficult. Whereas large, displaced fractures can be easily demonstrated on anteroposterior radiographs with internal and external rotation of the humerus, the axillary view is often necessary to detect smaller fragments with little displacement.     

Wormian bones in osteogenesis imperfecta and other disorders

When are Wormian bones significant is not an easy question to answer, but its relevance is important in relation to bone dysplasias such as osteogenesis imperfecta. Recognition will differ with age of patient, radiographic objectivity, and personal subjectivity. In order to attempt an answer, the skull radiographs of 81 cases of osteogenesis imperfecta of varying ages were examined for the presence of wormian bones. These were compared against the incidence of Wormian bones in 500 skull radiographs of normal children. Significant Wormian bones as against normal developmental variants were considered to be those more than 10 in number, measuring greater than 6 mm by 4 mm, and arranged in a general mosaic pattern. They were found in all the cases of osteogenesis imperfecta but not in the normal skulls. The occurrence of significant Wormian bones in other bone dysplasias from our material and that of the literature was recorded. Other incidental findings in the skulls of the cases of osteogenesis imperfecta were also appraised.     

Elbow arthroscopy

Decreased surgical morbidity and rapid recovery time associated with arthroscopic surgery of the elbow justify its preference over more extensive open incisions in selected cases. Not all elbow conditions can be treated arthroscopically, however, and open incisions are still preferred in more extensive problems such as displaced fractures and olecranon impingement syndromes.     

The treatment of avulsion fractures of the tibial tuberosity in adolescent athletes

Avulsion fractures of the tibial tuberosity occur mainly during sport activities and are closely related to the strains exerted on the anterior tibial tuberosity by the extension complex of the thigh. A knowledge of the mechanical aspects of these avulsions may improve understanding of the mechanisms of such injuries. In such avulsion fractures, tensile forces due to the contraction of the quadriceps complex overcome the cohesive forces within the apophyseal cartilage. A 1-month cast immobilisation on an extended knee gives good results in the management of nondisplaced fractures. In minor displacements, such immobilisations follow closed external reductions. Open reductions and stable screw fixations precede a 3-week immobilisation for displaced fractures. Long term results are regularly good in well-managed cases.     

Multiple symmetrical fractures of bone of unresolved etiology.

The clinical, laboratory, and radiologic picture of a unique patient with symmetrical fractures of the anterior tibial midshafts, dorsal ulnar cortices, and lateral metatarsals is presented. The findings are not compatible with a diagnosis of osteogenesis imperfecta or osteomalacia despite osseous fragility. The elevated serum pyrophosphate and low urine phosphate content suggest that abnormalities in phosphate metabolism may have contributed to the formation of bone which is biochemically and structurally deficient.     

Olecranon stress fracture in a weight lifter: a case report

Stress fractures have been reported in the upper limb of sportspeople involved in upper limb dominated events. Olecranon stress fractures have been cited in baseball pitchers, javelin throwers, and gymnasts. The unusual case of a stress fracture of the olecranon in a young weight lifter is reported here. The minimally displaced stress fracture was treated with tension band and two Kirschner wires. The fracture healed in four months and the patient returned to light sports activity after six months.     

Subperiosteal new bone and callus formations in neonates with femoral shaft fracture at birth

To compare the timing of subperiosteal new bone formation (SPNBF) and callus formation in femoral shaft fractures that occurred at birth between neonates with and without an underlying disease, we retrospectively evaluated the radiographs of 12 neonates with femoral fractures on birth day. Seven had no underlying disease, 3 had osteogenesis imperfecta, 1 had myotonic dystrophy, and 1 had arthrogryposis. We evaluated the timing of initial SPNBF/soft callus/hard callus formation. In neonates without an underlying disease, SPNBF and callus formation were not detected by day 6 on radiographs; SPNBF/soft callus/hard callus formation was first observed at day 14.29 ± 5.35/15.85 ± 4.49/21.43 ± 5.41, respectively (range 9–23/10–23/16–32). The three neonates with osteogenesis imperfecta had SPNBF/soft callus/hard callus formation on day 0/0/0, which was significantly earlier than in neonates without an underlying disease (all P = 0.017). In the neonate with myotonic dystrophy, SPNBF/soft callus/hard callus formation was first seen by day 14/14/14 and was first seen by day 20/43/68 in the neonate with arthrogryposis. In our restricted cohort, all neonates with femoral shaft fractures from birth trauma without an underlying disease showed SPNBF and soft callus formation by day 23. If SPNBF or callus formation is detected within 6 days, an underlying disease (e.g., osteogenesis imperfecta) may be considered. If these are not detected by day 23, injury after birth or other underlying diseases may be considered.     

The prenatal ultrasonographic diagnosis of osteogenesis imperfecta lethalis

The ultrasonographic features of osteogenesis imperfecta lethalis (OI Type II), including those not reported previously (*), are: In the skull: *Abnormal compressibility of the vault by the transducer, which may alter measurements of biparietal diameter. *Unusually good visualization of the orbits. *Increased visualization of arterial pulsations. *Increased through-transmission of the ultra-sound beam due to extremely poor mineralization. In the remainder of the skeleton. *Diminished visualization and increased through-transmission of the remainder of the skeleton, particularly of the spine, ribs and long bones due to defective mineralization. *Abnormally short limbs and poor visualization of the long bones due to defective mineralization. *Abnormally small thorax due to collapse of the rib cage. *Reduced fetal movement. Recognition of fetal fractures and deformities. Prenatal radiographs can be used to confirm the diagnosis and differentiate between osteogenesis imperfecta lethalis and other forms of neonatal dwarfism.     

Distal patellar tendon avulsion fracture in a football player with osteogenesis imperfecta

Proximal patellar tendon ruptures have been described in adults with osteogenesis imperfecta, but distal avulsions from the tibial tubercle have not. This is the first case reporting a distal patellar tendon avulsion fracture in a football player with osteogenesis imperfecta and the technique of surgical repair.     

Osteoporosis — Pseudoglioma syndrome: report of threee brothers

Three sibs with osteoporosis-pseudoglioma syndrome (OPS) are described. Two older boys were diagnosed as osteogenesis imperfecta. In the younger boy OPS was recognised at first consultation. This syndrome radiologically simulates osteogenesis imperfecta. These two conditions can be easily differentiated if associated clinical and ophthalmological features are taken into consideration. Correspondence to: K. Kozlowski     

Pseudomass of the sternal manubrium in osteogenesis imperfecta

Skeletal abnormalities such as hypertrophic callus formation and "popcorn" calcifications are rare radiological findings of osteogenesis imperfecta, causing tumor-like appearances on imaging. We report on a 7-year-old girl with osteogenesis imperfecta presenting with hepatomegaly and palpable lymphadenopathy in the left inguinal region on physical examination. Computed tomography examination revealed a high-density mass-like lesion of the manubrium sterni. Ultrasonography and a lateral roentgenogram of the chest verified that this was a pseudomass caused by a bowed sternal manubrium.     

成骨不全的临床和X线表现的诊断价值

目的：探讨成骨不全的诊断标准。材料与方法：对６８例成骨不全病人的临床资料和Ｘ线图像进行回顾性分析。结果：（１）普遍性骨密度减低（骨量减少）并易骨折（６８例），（２）蓝色巩膜（６１例），（３）牙质形成不全并带乳白光的蓝灰色（４９例），（４）进行性耳聋－内耳硬化（多在４０岁前，３８例）。（５）其他异常：形态结构异常（６８例），生长迟缓（４９例），多汗（２４例）并异常体温（１６例），瘢痕体质（１１例）和皮下出血等，但均无特殊意义。结论：在所有临床、Ｘ线表现中以骨密度减低并易骨折；蓝色巩膜；牙质形成不全并呈蓝灰色和耳硬化等异常，最为常见且具有特征性，可作为成骨不全临床和放射学的诊断标准     

Successful anterior cruciate ligament reconstruction and meniscal repair in osteogenesis imperfecta

A case of anterior cruciate ligament (ACL) reconstruction with meniscal repair in an osteogenesis imperfecta patient is reported. A 24-year-old female with osteogenesis imperfecta type 1a suffered from a valgus extension injury resulting in tear of ACL and medial meniscus. She underwent an arthroscopic-assisted ACL reconstruction and medial meniscus repair. Meniscal tear at the menisco-capsular junction of the posterior horn of medial meniscus was repaired with three absorbable sutures via inside-out technique. ACL reconstruction was then performed with a bone-patellar tendon-bone allograft. The patient was followed up for 1 year with intact ACL grafts and healed medial meniscus. This case report showed that successful ACL reconstruction and meniscal repair is possible in an osteogenesis imperfecta patient.Level of evidence V.     

成骨不全的X线诊断（附5例报告）

目的探讨成骨不全的放射学特征及其对鉴别诊断的意义。方法5例临床疑诊成骨不全患儿（3名男孩，2名女孩，年龄为3d～6岁）于临床症状出现后均经头颅、胸部、上下肢x线摄影检查。结果x线摄影证实，本组成骨不全患儿的主要放射学表现是头颅增大，形似倒置的三角瓶，颅缝增宽，颅板呈纸样薄；双侧肋骨后段纤细，前段呈喇叭样扩大，骨皮质菲薄；双侧肱骨、尺骨及桡骨多发性骨折，双侧胫腓骨细而长，弯曲变形或伴青枝骨折，骨小梁结构不清。结论成骨不全的放射学表现具有一定特征，而这些特征有助于将成骨不良与佝偻病，坏血病，软骨发育不全，呆小症，大块骨质溶解症，以及Langerhan’s细胞组织细胞增生症相鉴别。     

Vertebroplasty at L5 with a transiliac transpedicular approach in a patient with osteogenesis imperfecta: technical note

The present report describes the use of a modified transpedicular vertebroplasty approach via the iliac bone for treatment of a painful osteoporotic L5 vertebral body fracture in a 66-year-old woman with osteogenesis imperfecta. As a result of altered osseous morphology of the pelvic girdle and lumbosacral junction secondary to the patient's condition, vertebroplasty at L5 was successfully performed by entering the needle into the adjacent superomedial aspect of iliac bone before passing through the pedicle and then into the vertebral body. This modified vertebroplasty approach provides an interesting alternative for fractures involving the frequently less accessible lowermost lumbar vertebral body.     

Valgus extension overload syndrome and stress injury of the olecranon

Basic science studies have improved our understanding of the pathomechanics for valgus extension overload and olecranon stress fractures. These disorders result from repetitive abutment of the olecranon into the olecranon fossa combined with valgus torques, resulting in impaction and shear along the posteromedial olecranon. The patient history and physical examination are similar for each disorder. Imaging studies including plain radiographs, computed tomography, MRI or bone scan may be necessary for accurate diagnosis. Clinical and basic science support mandatory and careful assessment of the medial collateral ligament when valgus extension overload is identified and limited debridement of the olecranon when surgery is indicated. For stress fractures that fail nonoperative management, treatment with internal fixation provides good results.