Acampomelic campomelic dysplasia: further radiographic variations.

Acampomelic campomelic dysplasia (ACD) is a rare genetic syndrome affecting bone and connective tissue. This syndrome is a variant of the more commonly encountered campomelic dysplasia but is characterized by the absence of long bone curvature (acampomelia). Affected children have a characteristically flat facial profile and present with respiratory distress. They all have markedly hypoplastic scapulae. We present two sisters with ACD between whom there were some clinical and radiographic differences and also variations from the classic CD. We describe shallow orbits, a radiographic finding that has not been previously documented in this dysplasia.

Frontometaphyseal dysplasia: neonatal radiographic diagnosis.

Frontometaphyseal dysplasia (FMD) is an uncommon genetic syndrome affecting bone and connective tissue. This condition is characterized by hyperostosis of the skull and prominence of the supraorbital ridges; long bones have flared metaphyses. Frontometaphyseal dysplasia is an X-linked dominant trait with more severe manifestations in males and with extreme variability in females. Diagnosis in the neonatal period is difficult. We present 2 newborn boys with the radiographic findings of FMD.

Radiologic changes in infancy in McKusick cartilage hair hypoplasia.

Cartilage hair hypoplasia (CHH), or metaphyseal dysplasia McKusick type, classically comprises short stature and scant fine hair. In this skeletal dysplasia there is a high incidence of immune deficiency and Hirschsprung disease, as well as a higher rate of malignancy. Clinical findings may be subtle in young children, and radiographic changes may be elusive. We present four children below age 2 in whom the clinical diagnosis of CHH was confirmed radiographically. We emphasize radiologically and clinically discernable anterior angulation of the entire sternum, a sign not previously described in this dysplasia.

The expanded spectrum of limb anomalies in the VATER association.

The radiographs of 230 children who had undergone neonatal surgery for imperforate anus and/or esophageal atresia/tracheoesophageal fistula were reviewed. Of the 31 children with limb anomalies thus detected, the 24 who had no radiologic or laboratory evidence of chromosomal abnormality form the basis of this report. In 16 children the limb anomalies fell within the commonly described spectrum of the VATER association. In the other 8 children and in 3 of the children with typical VATER limb anomalies additional anomalies were encountered: Sprengel deformity [2], hypoplasia of the humerus [3], radioulnar synostosis [1], midline anomalies of the hand [1], absence of the pubis, femur, tibia, and fibula and two rays of the foot [1], and other foot deformities. Subtle anomalies of the hand were common and included: clinodactyly, syndactyly, shortening of the middle phalanx of the fifth digit, and rotary malposition of the digits.

Leg-length determination with biplanar CT scanograms.

Computed tomography (CT) scanograms provide an accurate method for evaluation of leg-length discrepancy. Flexion of a leg may be missed on a single frontal projection, and the measurements obtained will be erroneously shortened. When performing CT sonography, lateral views of the limbs may be easily and rapidly obtained without having to change the position of the patient. This permits assessment of limb flexion.

Ectopia cordis and the radiographic changes of a new surgical repair technique.

Preliminary repair of the midline thoracic defect in a newborn with ectopia cordis entailed the use of a prosthetic silo and fluid-filled tissue expanders placed under the lateral chest wall. On post-operative radiographs these expanders simulated the appearance of massive subcutaneous oedema of the chest wall.

Uroradiographic manifestations of Burkitt's lymphoma in children.

The radiological studies of 18 children with biopsy proved Burkitt's lymphoma were analyzed retrospectively. Before therapy the genitourinary tract was evaluated in 15 children by excretory urography, sonography, computerized tomography and/or gallium citrate scintigraphy. Genitourinary abnormalities were detected in 9 children. Changes due to tumor included renal or ureteral displacement in 4 children, hydronephrosis in 3 and intraparenchymal masses in 4. Extrinsic compression of the bladder causing no compromise of function was seen in only 2 children. Gonadal involvement occurred in 2 boys and 1 girl. The modality of choice for evaluating the genitourinary tract in patients with Burkitt's lymphoma has been excretory urography. Since ultrasound and computerized tomography provide more direct information about tumor deposits within the kidney and retroperitoneum, either should be performed in this population before initiation of chemotherapy.

Delayed spontaneous rupture of augmented bladder in children: diagnosis with sonography and CT.

With the increasing use of augmentation enterocystoplasty to treat patients with small-capacity, noncompliant bladders, an increase in the number of cases of delayed spontaneous intraperitoneal rupture of the augmented bladder has been reported. Although patients with a ruptured bladder usually will have an acute abdomen, these clinical signs and symptoms may be masked in spina bifida patients because of their neurologic deficit. Cystography and sonography were performed in four spina bifida patients with delayed spontaneous rupture of an augmented bladder. One patient also had isotope cystography. Two patients were examined with CT. Cystographic findings were abnormal in only one case. Peritoneal fluid was identified sonographically in all four cases and also was seen in both CT studies. Our study reveals that enhanced cystography will frequently fail to show leakage from an augmented bladder. Sonography and CT are reliable in detecting free intraperitoneal fluid, a finding that can significantly aid in the diagnosis of ruptured bladder after enterocystoplasty. Therefore, cystography with normal findings must be followed by sonography or CT in order to detect extravasated urine.

Bone changes associated with cystic fibrosis.

Musculoskeletal symptoms are known to occur frequently in patients with cystic fibrosis. Radiographs of the hands and wrists, and of the tibia and fibula of 56 patients with cystic fibrosis were reviewed. No radiographic joint abnormalities were detected. However, it was noted that the fourth metacarpal was shortened in 5 of 56 patients (9%), a finding that has not been previously documented. Hypertrophic pulmonary osteoarthropathy was present in 3 patients (5.5%).

Mastoid abnormalities in Down syndrome.

Hearing loss and otitis media are commonly associated with Down syndrome. Hypoplasia of the mastoids is seen in many affected children and sclerosis of mastoid bones is not uncommon in Down syndrome. Awareness and early recognition of mastoid abnormality may lead to appropriate and timely therapy, thereby preserving the child's hearing or compensating for hearing loss; factors which are important for learning and maximum development.

Clear cell sarcoma of the kidney: CT, sonographic, and pathologic correlation.

The sonographic and computed tomographic findings in 12 children aged 1-6 years with clear cell sarcoma of the kidney were reviewed retrospectively. Tumor size, calcification, and internal architecture were characterized and correlated with the gross pathologic findings. All tumors were unilateral and large (8.5-16 cm in diameter). Except for one, all masses were predominantly solid, and all contained some well-defined portions of low attenuation or hypoechogenicity that represented tumor necrosis. In addition, seven tumors contained uncomplicated fluid-filled cysts with diameters ranging from a few millimeters to 5 cm. Extension into the inferior vena cava was not noted. The radiologic features of clear cell sarcoma of the kidney are common to all malignant renal neoplasms. Some cases, however, may have features that simulate those of benign conditions, such as multilocular cystic nephroma or segmental cystic dysplasia. No pattern was discerned that would permit discrimination between clear cell sarcoma of the kidney and the most common renal neoplasm of childhood, Wilms tumor.

Atypical findings on computed tomography in tuberous sclerosis. Case reports.

In 3 patients with tuberous sclerosis computed tomography showed numerous low-density areas suggestive of brain demyelination. In addition, solitary small subependymal calcifications were noted. These features in an infant or child with unexplained seizures should alert one to the diagnosis of tuberous sclerosis.

Sacrococcygeal chordoma in young adults.

Sacrococcygeal chordoma in young adults is rare. Two patients, aged 29 and 34 years, are presented. Computed tomography plays an important role in delineating the extent of bony destruction and soft-tissue involvement. This information is necessary for treatment which may include surgery, radiotherapy and/or chemotherapy. A review of sacrococcygeal chordomas is presented.

Computed tomographic findings in primary mandibular osteosarcoma.

Osteosarcoma of the mandible is a rare tumour. Two cases examined by computed tomography (CT) are presented. The osteolytic, osteoblastic and extra-osseous components are excellently shown by CT. The attenuation coefficient of calcified and non-calcified osteoid is extremely variable, with densities ranging from +19 to +320 EMI units. The extension of lesions into the pterygopalatine fossa, infratemporal fossa and cranial cavity are precisely defined on CT, information which is necessary for surgical and radiotherapy planning.

Computed tomographic appearance of laryngoceles.

The diagnosis of laryngoceles is usually not difficult and can be made clinically and by conventional radiological methods. Computed tomography is a useful, non-invasive, complementary method for confirming the diagnosis especially in complicated cases.

Gallium scintigraphy in American Burkitt lymphoma: accurate assessment of tumor load and prognosis.

The radiographic evaluation of 18 children with American Burkitt lymphoma was analyzed retrospectively. Pretreatment gallium-67 (67Ga) scintigraphy, done in 12 children, was interpreted as normal in only three children. In the other nine children, 67Ga scans demonstrated more sites of tumor involvement than any other method. Pretreatment abdominal computed tomography and sonography were valuable for evaluating ascites, density and size of the liver and spleen, renal involvement, and the presence of lymphomatous soft-tissue masses. Sonography was less accurate at localizing tumor deposits, but more sensitive to small amounts of ascites. Any of these methods is an effective way of following response to chemotherapy. However, it appears that sequential 67Ga scintigraphy may have significant prognostic value, as those children whose scintigrams reverted to normal within 6 months have survived.

MR imaging of osteoid osteoma.

An osteoid osteoma was detected in a young boy with a classic history for this lesion. Plain radiography was not helpful but ultrasound and magnetic resonance imaging demonstrated the tumor nidus.