Biomedical subjects
Publications and source records attributed to R I Markowitz.
This article describes a practical approach to the radiologic evaluation and diagnosis of inherited bone dysplasias and syndromes. Useful references and resource materials are suggested. To illustrate these points, challenge cases are provided. The reader is invited to research each of these examples and arrive at a diagnosis. The correct diagnosis and case discussion follow the figures.
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The purpose of this study was to identify the causes and epidemiology of back pain in children who present to the emergency department. All children who presented to an urban pediatric emergency department (ED) during a 1-year period with the chief complaint of back pain were examined and evaluated with a uniform questionnaire. This was completed at the time of the ED visit in 48%, and within 48 hours in 52%. During a 1-year period, 225 children with a complaint of back pain were evaluated. The mean age was 11.9 +/- 4 years and 60% were female. Onset was acute (< or = 2 days) in 59%, and chronic (> or = 4 weeks) in only 11.6%. Pain awakened children from sleep in 47%, and caused 52% to miss school or work. The most common diagnoses were direct trauma (25%), muscle strain (24%), sickle cell crises (13%), idiopathic (13%), urinary tract infection (5%), and viral syndrome (4%). Radiographs of the back were rarely helpful. About 5% required hospital admission; one half of these were attributed to sickle cell crises. We conclude that back pain is an uncommon reason for children to present to an emergency department. When present, pediatric back pain is most often musculoskeletal, associated with an acute infectious illness or a traumatic event. Although the etiology is rarely serious, back pain often affects the daily activities of symptomatic children.
We present a patient with pansynostosis, hydrocephalus, seizures, extreme proptosis with luxation of the eyes out of the lids, apnea and airway obstruction, intestinal non-rotation, and severe developmental delay. His skeletal abnormalities include bilateral elbow ankylosis, radial head dislocation, and unilateral broad and deviated first toe. The phenotype of this patient is consistent with that previously reported in Pfeiffer syndrome type III, but is unusual for the lack of broad thumbs. Our patient most closely resembles the case described by Kerr et al. [1996: Am J Med Genet 66:138-143] as Pfeiffer syndrome type III with normal thumbs. Mutations in the genes for fibroblast growth factor receptors (FGFR) 1 and 2 have previously been seen in patients with Pfeiffer syndrome type I. The mutation identified in our patient, Ser351Cys in FGFR2, represents the first reported cause of Pfeiffer syndrome type III. An identical mutation was described once previously by Pulleyn et al., in a patient whose brief clinical description included cloverleaf skull, significant developmental delay, and normal hands and feet [Eur. J. Hum. Genet. 4: 283-291, 1996]. In our patient, previously performed single-strand conformation polymorphism analysis failed to detect a band shift; the mutation was identified only after independent sequence analysis.
OBJECTIVE: In order to achieve more "timely" interpretation of radiologic examinations, a 3 to 11 p.m. attending radiologist slot was incorporated into the daily schedule utilizing existing staff. Our purpose was to assess the effectiveness of this practice by measuring report generation times. MATERIAL AND METHODS: Using a radiology information system (DecRAD), the time between completion of the technical examination and dictation of the official report for general (plain film) studies was determined for a 2-month period and compared to similar periods 1 and 2 years prior to instituting extended hours. Emergency and portable (ICU) exams were similarly analyzed. RESULTS: The number of examinations reported within 2 h of technical completion increased by 8.5% (mean); reporting within 4 h increased by 20%; reporting within 6 and 12 h of completion each increased by 24%. Over 80% of cases were dictated within 12 h after the change in practice occurred; whereas, it took up to 24 h in preceding years. Analysis of emergency and portable ICU exams showed similar trends, and the number of next day "call-backs" to the emergency department was significantly reduced. CONCLUSION: By extending attending coverage, more plain film examinations, especially emergency cases and ICU portables, were read and reported within a shorter time providing prompt communication with clinicians and more opportunity to influence management decisions.
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The alterations in anatomy and physiology, which often accompany congenital heart disease, may have a major impact on the child's lungs. These changes in pulmonary blood flow and ventilation are usually demonstrable on chest radiography and should be recognized as manifestations of the underlying lesion and not mistaken for primary lung disease. Correlation with the clinical history and physical examination are essential for correct interpretation, but radiological findings should be viewed objectively and without bias to provide accurate and valuable information to the treating physician.
The radiographic characteristics of pulmonary infection in children are many and varied. Although typical patterns are helpful in diagnosis, clinical and laboratory evaluation provide important diagnostic information. An understanding of the basic pathophysiology of infection and an appreciation of the anatomy of the child's growing lung help provide clearer, insightful, and more accurate radiological interpretation.
PURPOSE: To determine the accuracy of barium studies in the diagnosis of duodenitis in children. MATERIALS AND METHODS: Seventy-five children (45 boys and 30 girls; mean age, 9 years) underwent upper gastrointestinal (GI) examinations. Twenty-four of the children had biopsy-proved duodenitis, and 51 were healthy control subjects. Radiologic findings were reviewed by two experienced, blinded observers and correlated with endoscopic and histologic results. Duodenal mucosal-fold thickness was measured on spot radiographs (20% magnification), and the extent of disease was evaluated. RESULTS: Of 15 children with mild duodenitis, 13 had normal radiologic findings and 11 had normal findings at esophagogastroduodenoscopy. Of nine children with severe duodenitis, all had friability or ulceration at endoscopy and mucosal-fold thickening of greater than or equal to 4 mm (> or = 3 mm in one infant aged less than 1 year) at upper GI examination. Mucosal-fold thickening was diffuse in patients with celiac, autoimmune, and adenovirus disease and was proximal in patients with peptic ulcer and Crohn disease. Of 51 control subjects, 50 had normal radiologic results, while 47 had normal endoscopic results. The sensitivity of upper GI examination for mild and severe duodenitis combined was 46% with a specificity of 98%, whereas endoscopy had a sensitivity of 54% and specificity of 92%. CONCLUSION: Mucosal-fold thickening was a specific sign of duodenitis in children and should be investigated. Upper GI examination yielded results similar to those at endoscopy.
We report on a fetus with tetramelic campomelia, polysplenia, multicystic dysplastic kidneys, and cervical lymphocele. This condition is similar to the autosomal recessive condition described by Cumming et al. [1986: Am J Med Genet 25:783-790] and is different from campomelic syndrome. In addition, our case had anomalies not previously described in this condition, including abnormal lung lobation with bilateral left bronchial morphology, dextrocardia, total anomalous pulmonary venous return, a left superior vena cava, and a right aortic arch. The pancreas was short, with absence of the body and tail. These anomalies are similar to those found in the polyasplenia spectrum. We suggest that the syndrome reported by Cumming et al. may be expanded to include polysplenia with heterotaxia and that Cumming syndrome may be considered another autosomal recessive condition associated with a laterality defect.
Skeletal anomalies in patients with a 22q11.2 deletion are reported infrequently. We report the skeletal findings in 108 patients with a 22q11.2 deletion, of whom 37 (36%) had a skeletal anomaly. Twenty-two patients (20%) had anomalies of the limbs, 7 of the upper limb, including preaxial or postaxial polydactyly. An anomaly of the lower limb was found in 16 patients, including postaxial polydactyly, clubfoot, severely overfolded toes, and 2-3 toe cutaneous syndactyly. Chest films of 63 patients were examined; 30% of them had abnormal findings, most commonly supernumerary ribs (17%) or a "butterfly" vertebral body (11%). Hypoplastic vertebrae, hemivertebrae, and vertebral coronal clefts were also noted. Thus, skeletal anomalies are not uncommon in patients with a 22q11.2 deletion and may occur more frequently than recognized previously.
Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by hypertelorism, macrocephaly, frontal bossing, broad nasal bridge, palate anomalies, hearing deficits, and mental retardation. The radiographic findings include cranial sclerosis, linear striations in the long bones and iliac wings, small poorly aerated sinuses, scoliosis, and increased bone density. The sensory deficits are disabling, but the condition generally is not life threatening. We describe 4 brothers with the characteristics of OS-CS, 3 of whom have died from more serious complications of the disorder. The mother of these children, and her only daughter, have the mildest phenotype with the typical linear striations in the long bones and macrocephaly. OS-CS is thought to be autosomal dominant with complete penetrance and variable expressivity. Our observations could be consistent with X-linkage, since there is milder expression in the female relatives. In addition, we recognize absent fibulae, malrotation, and omphalocele as new manifestations as well as congenital heart disease.
OBJECTIVE: Our objective is to report how an inexpensive computer database program (Filemaker Pro, version 3.0, for Macintosh) can be used to manage work schedules and optimize staff use in a radiology department. CONCLUSION: Using this report in conjunction with the manufacturer's documentation, one can adapt this database program to any scheduling situation.
The underlying basis of many forms of syndromic craniosynostosis has been defined on a molecular level. However, many patients with familial or sporadic craniosynostosis do not have the classical findings of those craniosynostosis syndromes. Here we present 61 individuals from 20 unrelated families where coronal synostosis is due to an amino acid substitution (Pro250Arg) that results from a single point mutation in the fibroblast growth factor receptor 3 gene on chromosome 4p. In this instance, a new clinical syndrome is being defined on the basis of the molecular finding. In addition to the skull findings, some patients had abnormalities on radiographs of hands and feet, including thimble-like middle phalanges, coned epiphyses, and carpal and tarsal fusions. Brachydactyly was seen in some cases; none had clinically significant syndactyly or deviation of the great toe. Sensorineural hearing loss was present in some, and developmental delay was seen in a minority. While the radiological findings of hands and feet can be very helpful in diagnosing this syndrome, it is not in all cases clearly distinguishable on a clinical basis from other craniosynostosis syndromes. Therefore, this mutation should be tested for in patients with coronal synostosis.
Intestinal malrotation is a major diagnostic challenge in children. Sometimes the prognostic significance of the findings from upper gastrointestinal tract examinations is unclear. In a series of 69 surgically proved cases, the authors studied the prevalence and clinical consequences of various radiographic patterns of malrotation and correlated surgical findings with the radiographic location of the duodenum and cecum. Seven patterns of duodenal malrotation were observed. Almost all children in the series had abnormalities of rotation or fixation of both the duodenum and colon, resulting in narrowing of the mesenteric base with potential for midgut volvulus. Of 69 patients, only one (1.4%) had an anatomically normal duodenum, and four (5.8%) had a surgically confirmed normal cecum fixed in the right lower quadrant. In the absence of a corkscrew or Z-shaped duodenum, patterns that usually indicate volvulus or obstructing Ladd bands, colon position had greater prognostic implication, especially when the cecum was situated in the right upper quadrant or left upper quadrant. These latter patterns were associated with the highest prevalence of volvulus.
Cystic fibrosis (CF), the most common lethal autosomal recessive disease in white populations, is characterized by dysfunctional chloride ion transport across epithelial surfaces. Although recurrent pulmonary infections and pulmonary insufficiency are the principal causes of morbidity and death, gastrointestinal symptoms commonly precede the pulmonary findings and may suggest the diagnosis in infants and young children. The protean gastrointestinal manifestations of CF result primarily from abnormally viscous luminal secretions within hollow viscera and the ducts of solid organs. Bowel obstruction may be present at birth due to meconium ileus or meconium plug syndrome. Complications of meconium ileus include volvulus, small bowel atresia, perforation, and meconium peritonitis with abdominal calcifications. Older children with CF may present with bowel obstruction due to distal intestinal obstruction syndrome or colonic stricture, and tenacious intestinal residue may serve as a lead point for intussusception or cause recurrent rectal prolapse. Radiologic studies often demonstrate thickened intestinal mucosal folds in older children and uncommonly show colonic pneumatosis, peptic esophageal stricture due to gastroesophageal reflux, and duodenal ulcer. Appendicitis due to inspissated secretions is uncommon. Obstruction of ducts and ductules produces exocrine pancreatic insufficiency, pancreatitis, cholestasis, cholelithiasis, and cirrhosis with portal hypertension. On imaging studies, the pancreas is commonly small and largely replaced by fat, sometimes displays calcifications, and is rarely replaced by macrocysts. Radiologic features of hepatobiliary disease include an enlarged radiolucent liver from steatosis, gallstones, a shrunken nodular liver, splenomegaly, and portosystemic collateral vessels. With the improved survival of CF patients, an increased risk for developing gastrointestinal carcinomas has been established, many occurring as early as the 3rd decade.
PURPOSE: To analyze difficult diagnostic cases of malrotation to identify features crucial to accurate diagnosis. MATERIALS AND METHODS: The authors reviewed the radiographs and records of 81 symptomatic children who underwent surgery with a preoperative diagnosis of malrotation. Eleven had subtle rotational abnormalities (potential false-negative examinations), and 12 had false-positive upper gastrointestinal examinations. RESULTS: Subtle signs of malrotation included unusual redundancy of the duodenum to the right of the spine and location of the duodenojejunal junction (DJJ) medial to the left pedicle. Nevertheless, two children with variations of malrotation had normal upper gastrointestinal examinations. False-positive diagnoses resulted from failure to recognize normal variants: jejunum in the right upper quadrant as the sole finding, DJJ over the left pedicle on the anteroposterior view, "duodenum inversum," and "duodenum mobile." Three children had bowel distention that displaced the DJJ. CONCLUSION: Diagnosis of difficult cases of malrotation may depend on recognition of anatomic subtleties. False-positive diagnoses may be avoided by appreciation of normal duodenal variants.
Ovarian torsion is uncommon and has a nonspecific clinical presentation. To determine the impact of imaging on clinical management, the authors reviewed their recent experience with 12 children who had a total of 13 episodes of ovarian torsion. Three children presented as neonates, six were premenarchal, and three were postmenarchal. Ultrasound was the imaging study of choice. In all three neonates, ultrasonography showed complex abdominopelvic cysts indicating the need for surgery. In five of 10 episodes in older patients, ultrasonography showed a solid mass with an appearance strongly suggestive of torsion. Same-day surgery was performed in three patients, and the involved ovary was salvaged in one. Another patient had a small piece of normal-appearing ovary left in situ. This low rate of ovarian salvage is attributable to the combination of delay in patient presentation and surgical delay owing to the often nonspecific clinical and imaging presentation of ovarian torsion. A high level of clinical suspicion, expeditious imaging, and familiarity with the varied clinical and imaging presentations of ovarian torsion should decrease the surgical delay and improve the likelihood of ovarian salvage.