Evaluation of newborns with skeletal dysplasias.

Skeletal dysplasia are a relatively common and distinct group of genetic disorders. Even though abnormalities of bone growth are the major clinical manifestations, the pathological process may involve in any body system. Many of these disorders have dire consequences such as neonatal death and most will have life-long physical and psychosocial morbidity associated with them. Recent advances in genetic research have identified the genes underlying the primary defects in several common skeletal dysplasias such as achondroplasia and diastrophic dysplasia. While these advances are clearly important in developing better therapy and a cure for those conditions, the role of the pediatrician as the diagnostician has remained unchanged. In this article we describe how a systematic approach using the simplest of tools--clinical assessment and radiograph--can arrive at a diagnosis in most instances of newborns with skeletal dysplasias. The key features that are essential for establishing a diagnosis for most of the entities encountered in the newborn are described along with our general approach to the evaluation of the radiographs.

A new Seckel-like syndrome of primordial dwarfism.

Seckel syndrome is a rare, recessively inherited disorder of severe growth retardation and distinct craniofacial, orodental, and skeletal anomalies. Even though there are well-established minimum diagnostic criteria for this syndrome, controversy exists about its boundaries and criteria for exclusion. We studied 2 remarkably similar, unrelated children with most of the clinical and radiographic manifestations of Seckel's original patient. Although their craniofacial and orodental anomalies are typical of Seckel syndrome, 1 child has unusual appearance of the hands and feet that have not been previously associated with it. This patient appears to define a new Seckel-like syndrome and suggests heterogeneity in this type of primordial dwarfism.

Esophageal foreign bodies in children: diagnosis, treatment, and complications.

OBJECTIVE: We performed this study to identify the role of radiology in the diagnosis, treatment, and complications of esophageal foreign bodies in children. MATERIALS AND METHODS: We retrospectively reviewed the charts and radiographs of 123 esophageal foreign bodies seen in 118 children at the Medical University of South Carolina from May 1980 through May 1995. RESULTS: Most foreign bodies were coins in the upper esophagus (69%) in infants less than 2 years old (65%) for fewer than 24 hr (60%). The presenting symptoms varied, with 20% of patients asymptomatic. Respiratory symptoms that mimicked upper respiratory tract infections or croup proved misleading with long-standing foreign body retention. Preexisting esophageal disease was present in 17% of patients. The Foley catheter method of foreign body extraction was attempted in 53 cases (43%) and was successful without complications in 46 (87%). Esophagoscopy was attempted in 72 cases (58%) and was successful without complications in 66 (92%). Three patients had major complications: a fatal aorticoesophageal fistula, an extraluminal migration of a coin, and a large esophageal diverticulum. Significant mucosal erosions were shown in six patients on radiologic studies after extraction. CONCLUSION: Early recognition and treatment of esophageal foreign bodies is imperative because the complications are serious and can be life-threatening. Radiology plays an important role in the initial diagnosis, in recognition of complications, and in treatment. The Foley catheter method of foreign body extraction can be used on some patients, but esophagoscopy remains the safest method of esophageal foreign body extraction.

Gastrointestinal tract duplications: clinical, pathologic, etiologic, and radiologic considerations.

Gastrointestinal tract duplications are uncommon congenital abnormalities. By definition, they are located in or adjacent to the wall of part of the gastrointestinal tract, have smooth muscle in their walls, and are lined by alimentary tract mucosa. The lining mucosa is not necessarily that of the adjacent segment of the gastrointestinal tract. The only clinically important ectopic tissues are gastric mucosa and pancreatic tissue. Although ectopic gastric mucosa is found in duplications at all levels of the gastrointestinal tract, it is most prevalent (43%) in esophageal duplications. Peptic ulcer within this ectopic tissue can account for unusual, often misleading symptoms. Ectopic pancreatic tissue is most common (37%) in gastric duplications and is associated with pancreatitis and elevated amylase levels. Detection of associated vertebral anomalies is a helpful clue in the radiographic diagnosis of duplications. Barium studies usually reveal an intraluminal, intramural, or extrinsic mass, and ultrasonography (US) demonstrates its cystic nature. When US findings are inconclusive, computed tomography can be used to show the true nature, location, and extent of the lesion, as well as associated vertebral anomalies and possible other duplications. Technetium-99m pertechnetate scintigraphy provides definitive evidence of a duplication when it contains ectopic gastric mucosa and is particularly useful for suspected esophageal, duodenal, and small bowel lesions.

Congenital renal arteriovenous malformations in infancy. The imaging features in two infants with hypertension.

Two infants with systemic hypertension were found to have congenital renal arteriovenous fistulas. The ultrasound, computed tomography, and angiographic features are presented. The hypertension subsided following nephrectomy in both patients.

Intrahepatic encystment of umbilical vein catheter infusate.

Massive hepatomegaly in a 2.1 kg female infant, with an indwelling umbilical vein catheter for total parenteral nutrition, occurred on the 10th day of life. Ultrasound and computed tomography studies revealed a large hepatic cyst filled with the catheter infusate. Percutaneous drainage brought about subsequent recovery. To our knowledge, this complication of umbilical vein catheter use has not been previously reported.

Acampomelic campomelic dysplasia.

Two newborn infants with respiratory distress showed all the clinical and radiologic stigmata of the campomelic dysplasia except campomelia itself.

Idiopathic multicentric osteolysis: report of two new cases and a review of the literature.

Idiopathic multicentric osteolysis is a rare skeletal disorder, usually presenting in early childhood with a clinical picture mimicking juvenile rheumatoid arthritis. Progressive destruction of the carpal and tarsal bones usually occurs and other bones may also be involved. Chronic renal failure is a frequent component of this syndrome. Mental retardation and minor facial abnormalities have been noted in some patients. We report on 2 unrelated, sporadic cases, one with facial anomalies and the other with nephropathy. Our second patient is the first black child to be diagnosed with this disease. The mode of presentation, differential diagnosis, and natural history of this disorder are briefly reviewed.

Midline central nervous lipomas in children.

We review the clinical, radiologic, surgical, and pathologic features of 15 children with central nervous system lipomas. Three were situated in the corpus callosum and 12 at the conus medullaris. The intracranial and the intraspinal disorders share several features suggesting that they are related. Both are midline developmental abnormalities associated with dysraphism and both may have extrinsic as well as intrinsic components. Both can occur as occult asymptomatic lesions, particularly early in life, or can be part of extensive dysraphic malformations. Computed tomography is the best way to demonstrate the nature and extent of these lesions prior to treatment.

Effects of sleeping with the bed-head raised and of ranitidine in patients with severe peptic oesophagitis.

Sleeping with the bed-head raised is commonly recommended as treatment for patients with troublesome oesophagitis, but its effect has not been objectively tested. Ranitidine therapy is useful in oesophagitis, but it does not often produce complete relief of symptoms. The effects of each of these treatments alone and in combination have been studied in 71 patients with severe (grade III) peptic oesophagitis. Each treatment improved both symptoms and endoscopic appearances significantly more than placebo did. However, the combination of the two treatments was much better than either alone; the reduction in pain score and the area of ulceration healed were about twice those with either treatment alone. Smoking more than five cigarettes per day or drinking more than 30 g alcohol per day significantly reduced the effectiveness of ranitidine therapy, but age, sex, body weight, or the presence of a hiatus hernia had no detectable effect.

Supernumerary kidney: typical and atypical features.

The clinical and radiologic features of three children with accessory renal units are presented. On the basis of the pyelographic and ultrasound findings, the first two clearly had free supernumerary kidneys. The third had a more complex "supernumerary variant," wherein the accessory renal unit formed the isthmus of a horseshoe or "pseudohorseshoe" kidney.

Serendipitous diagnosis of childhood xanthogranulomatous pyelonephritis in a child with osteomyelitis.

Xanthogranulomatous pyelonephritis (XGP), a rare chronic renal infection in children, usually presents as high fever, pyuria and an abdominal mass. This child with clinical and radiologic evidence of osteomyelitis was not suspected of renal disease until a non-functioning kidney was discovered during a bone scan. The pathologic proven diagnosis of XGP could have been made by correlative imaging using renal ultrasound, a renal scan and a gallium scan. Computed tomography and voiding cystourethrography provided additional information as to the nature and extent of the disease process.

Posterior urethral valves: an update and review.

Here, in a comprehensive review of an important pediatric problem, the authors discuss the embryology, the clinical and radiological features, the complications and the management of posterior urethral valves.

"Communicating" bronchopulmonary foregut malformations.

The clinical, radiologic, and pathologic features of four children with uncommon variations of congenital bronchopulmonary foregut malformations are presented. In each case, the malformation included a persistent communication between lung tissue and the gastrointestinal tract. One case, in which an esophageal bronchus was associated with esophageal atresia and tracheoesophageal fistula, is considered extremely unusual. The embryogenesis of these communicating bronchopulmonary foregut malformations is outlined, and the key radiologic features are discussed.