From Vogt to Haight and Holt to now: the history of esophageal atresia over the last century.

Esophageal atresia was first classified by the Boston Children's Hospital radiologist Edward Vogt in 1929 and has been a major challenge in its characterization and management ever since. It defied all attempts at repair until University of Michigan thoracic surgeon Cameron Haight's first successful fistula ligation and primary esophageal anastomosis in 1941. Haight worked with the pediatric radiologist John Holt. This historical review describes advances in pre- and postnatal diagnosis.

Shwachman-Bodian-Diamond syndrome: metaphyseal chondrodysplasia in children with pancreatic insufficiency and neutropenia.

Shwachman-Bodian-Diamond syndrome (OMIM 260400) was identified in 1964 by pediatricians Harry Shwachman, a leader in cystic fibrosis, and Louis K. Diamond, a hematologist, along with pediatrician and morbid anatomist Martin Bodian. Initially the syndrome's clinical presentation included exocrine pancreatic insufficiency (lipomatous replacement of the pancreas) and neutropenia. In 1967 skeletal changes of metaphyseal chondrodysplasia were also described, completing the triad of findings; these abnormalities are present in all affected children and should be viewed as an integral feature of the syndrome, also called Shwachman-Diamond syndrome.

Volvulus of the entire small bowel with normal bowel fixation simulating malrotation and midgut volvulus.

BACKGROUND: Midgut volvulus is a complication of malrotation of bowel and mesenteric malfixation. In contrast, primary volvulus of the small bowel is a distinctly different and rare entity characterized by torsion of the entire small bowel with normal mesenteric fixation. OBJECTIVE: To present the clinical and imaging findings in four infants with primary small bowel volvulus and normal bowel fixation in order to improve awareness of this entity among clinicians and radiologists and to discuss the potential etiologies of this entity to distinguish it from other causes of small bowel volvulus. MATERIALS AND METHODS: A retrospective review of imaging studies (two ultrasounds and four upper gastrointestinal series) in four infants (three full-term and one premature) from three institutions with surgically proven volvulus of the entire small bowel and normal bowel fixation were reviewed by three board-certified pediatric radiologists and correlated with clinical and surgical reports when available. RESULTS: The infants presented during the first week to 6 months of life and were acutely ill. The upper gastrointestinal series showed complete duodenal obstruction with beaking in one and partial duodenal obstruction in three. All studies were interpreted as highly suspicious for malrotation and midgut volvulus. Emergent laparotomy demonstrated primary small bowel volvulus with normal mesenteric fixation in all infants. The base of the small bowel mesentery was described by the operating surgeon as smaller than normal in one infant (case 3). There was no mesenteric defect or other abnormality predisposing to volvulus in the other three. In both infants who had abdominal US, a retroperitoneal position of the third portion of the duodenum was demonstrated. All infants survived. One infant required resection of the necrotic small bowel and currently has short gut syndrome, one has malabsorption and two were lost to follow-up. CONCLUSION: Primary small bowel volvulus with normal fixation is indistinguishable from malrotation with midgut volvulus in the acutely ill infant or child. Radiographic diagnosis can be difficult in patients with intermittent or incomplete small bowel volvulus without malrotation. In these patients, neither an upper gastrointestinal series demonstrating a normal position of the duodenojejunal junction nor the sonographic demonstration of a retromesenteric third portion of the duodenum excludes the diagnosis. In young infants, the clinical and imaging findings may mimic necrotizing enterocolitis. Sonography may be useful to evaluate the bowel for signs of bowel wall compromise or a whirlpool sign.

The extraordinary career of Professor Dr. Simon van Creveld.

Simon van Creveld received both the MD and PhD degrees and had a multifaceted medical and scientific education at many hospitals and research institutes in the Netherlands, Germany, and the UK. He and his wife were the first to develop insulin for the Netherlands. His major interests were in hemophilia and hemorrhagic disorders, which accounted for 87 of his publications. In 1934, van Creveld demonstrated that a dispersed protein fraction obtained from serum could reduce the clotting time of hemophilic blood. His interest in glycogen storage disease resulted in van Creveld-von Gierke disease for which van Creveld contributed four published articles. The Ellis-van Creveld syndrome, also known as chondroectodermal dysplasia, was published in 1940 and became well known to medical geneticists. During the Nazi occupation of the Netherlands, van Creveld's professorship was taken away from him because he was Jewish. His visits to hospitals of concentration camps to treat babies and give pediatric advice while wearing a Jewish Yellow Star and interacting with SS Commandants in charge, and then leaving can only be described as amazing. After the war, his professorship was returned, and in the same year as his retirement, he established a large Hemophila Treatment and Research Center now known as the Van Creveld Clinic, which celebrated its 40th anniversary in 2005.

Martin 'Dick' Wittenborg 1914-1969: a legacy.

The life of Martin H. Wittenborg was short. During his tenure at Boston Children's Hospital, he wrote brilliant papers based on his observations regarding such entities as intestinal malrotation and vascular rings and slings. He wrote about his extensive experience using radiotherapy in the treatment of neuroblastoma and its effects on the growing spine. This article reflects the memories of some of his students, who describe him as a brilliant teacher. His effect on so many and his contributions are all the more remarkable considering the fact that Wittenborg was deaf.

Multi-slice computed tomography assessment of bronchial compression with absent pulmonary valve.

BACKGROUND: Absent pulmonary valve is a rare cardiovascular anomaly that can result in profound tracheobronchial compression. OBJECTIVE: To demonstrate the advantage of multi-slice CT in diagnosing tracheobronchial compression, its severity as related to the adjacent dilated pulmonary arteries, and associated lung and cardiac lesions. MATERIALS AND METHODS: We included children with absent pulmonary valve who were reviewed by multi-slice CT during a 17-year period. The number and locations of stenoses and lung lesions were noted and the severity of stenosis was categorized. The diameter of the pulmonary artery was measured and associated cardiac defects were demonstrated. RESULTS: Thirty-one children (14 girls and 17 boys) were included. Of these, 29 had ventricular septal defect and 2 had an intact ventricular septum. Twenty-nine children (94%) had tracheobronchial compression, judged to be mild in nine children (31%), moderate in 10 (34%) and severe in 10 (34%). The different locations of the stenosis (carina, main bronchi, lobar and segmental bronchi) were observed. And the number and location of lung lesions demonstrated that the right middle and left upper and lower lobes were often affected. The diameter of the pulmonary artery in these children was well above normal published values, and Spearman rank correlation analysis showed a correlation between the size of the pulmonary artery and the severity of the tracheobronchial stenosis. Nineteen children (61%) underwent surgery and 4 of these children had a multi-slice CT post-operative follow-up study. CONCLUSION: Absent pulmonary valve can cause significant morbidity and mortality in children. Multi-slice CT can accurately depict areas of tracheobronchial compression, associated lung lesions and cardiac defects, helping to direct the surgeon.

Transient enhancement of pericardium, peritoneum, soft tissues and perhaps lymphatics after large doses of contrast administration: an overlooked phenomenon?

An infant with complex cyanotic congenital heart disease was recently encountered whose radiographs seemed to show enhancement of pericardium, peritoneal mesothelium and body wall fascial planes without enhancement of the liver or spleen after very large doses of intravenous contrast. Although patterns of postcontrast enhancement have been described previously, this pattern seems to be unique. We report the unusual postcontrast opacification pattern and speculate about its underlying mechanism.

The triad of bridging bronchus malformation associated with left pulmonary artery sling and narrowing of the airway: the legacy of Wells and Landing.

Although noted in the 19th century, it was not until 1938 that Scheid published the combination of left pulmonary artery sling and narrowing of the airway due to annular tracheal cartilages. Unaware of these prior descriptions, and without a precise preoperative diagnosis, Willis Potts in Chicago performed the first successful sling repair in 1953. In 1976, Cohen and Landing described Scheid's combination of left pulmonary artery sling and stenosis caused by complete tracheal rings, and the term "ring-sling complex" was introduced by Berdon in 1984. Four years later, Wells and Landing noted characteristic tracheobronchial malformations associated with these lesions and proposed a classification that has been confirmed to be clinically relevant in recent cross-sectional imaging studies.

Pseudoachondroplasia and the seven Ovitz siblings who survived Auschwitz.

This historical report focuses on the first clinical description of pseudoachondroplasia and its radiographic findings. Only half a century ago, pseudoachondroplasia was recognized as a genetic disorder with a distinct but variable phenotype of short stature, normal facial features, and progressive joint problems starting in adolescence. Radiologically, the disease is particularly intriguing because the patients appear normal at birth. The patients develop the typical gait disturbances when they begin to walk. Radiographs show the characteristic anterior tongue-shaped lumbar vertebral body changes that develop after the first year of life. This account presents the most well-known group of individuals affected by pseudoachondroplasia, the Ovitz family, who narrowly escaped death in the concentration camp of Auschwitz in 1944 because of SS physician Dr. Josef Mengele's fascination with dwarfs. It was not until 1995 that the underlying genetic defect in the COMP gene was identified on chromosome 19.

Long-segment narrowing of the abdominal aorta and its branches in a survivor of infantile neuroblastoma treated without radiation therapy.

Narrowing of the abdominal aorta and renal arteries (mid-aortic syndrome) after treatment for neuroblastoma has been attributed to radiation therapy. We present a child with neuroblastoma, successfully treated without radiation therapy, who developed mid-aortic syndrome and hypertension. MR imaging demonstrated encasement of the aorta at presentation. Following successful treatment, long-segment aortic narrowing and narrowing of the proximal renal arteries were present. Hypertension has improved during a 5-year period although renal artery stenosis persists. The incidence of mid-aortic syndrome in children with neuroblastoma is unknown. Etiologies include vascular injury from radiation or chemotherapy, the effect of catecholamines secreted by the tumor on arterial growth, arterial injury at the time of surgery or a constitutional predisposition to the development of both neuroblastoma and mid-aortic syndrome.

Williams-Beuren syndrome: historical aspects.

Williams syndrome, also known as Williams-Beuren syndrome (OMIM database entry 194050), is now known to be commonly associated with a hemizygous chromosomal deletion at 7.q11.23. The way in which the condition came to be recognized historically is reviewed along with some biographical details of the people involved.

John C. P. Williams of Williams-Beuren syndrome.

John C.P. Williams of New Zealand, whose name is associated with Williams-Beuren syndrome, spent his known professional career primarily in cardiovascular research. His disappearance in the mid-1970s and his later life remain a mystery.

Value of postmortem thoracic CT over radiography in imaging of pediatric rib fractures.

BACKGROUND: Studies have reported that thoracic CT may provide greater sensitivity compared with radiography in detection of pediatric rib fractures and fracture healing. The additional sensitivity afforded by thoracic CT may have medicolegal implications where abuse is suspected. OBJECTIVE: To determine the additional value of postmortem thoracic CT compared with radiography in detecting pediatric rib fractures, and fracture healing, using autopsy findings as a gold standard. MATERIALS AND METHODS: We retrospectively reviewed 56 coroner's cases with postmortem radiography and CT thoracic survey. All studies underwent primary interpretation by one or two radiologists. The study radiologist independently reviewed all images from 13 patients with positive findings on radiography, CT or autopsy. Sensitivity and specificity between observers and imaging modalities were compared. RESULTS: Primary interpretation: Fractures were recognized on radiography in 5/12 patients who had fractures found at autopsy, and on CT in 8/12 patients. In total, 29% (24/83) of fractures were reported on radiography, and 51% (52/101) of fractures were reported on CT. Study radiologist: Fractures were recognized on radiography in 7/12 patients who had fractures found at autopsy, and on CT in 11/12 patients. In total, 46% (38/83) of fractures were reported on radiography, and 85% (86/101) of fractures were reported on CT. CONCLUSION: Postmortem thoracic CT provides greater sensitivity than radiography in detecting pediatric rib fractures, most notably in anterior and posterior fractures. However, the degree of improvement in sensitivity provided by CT might depend on observer experience.

Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-Levin syndrome).

In 1938, Saul Jarcho and Paul Levin from Johns Hopkins Hospital reported cases of thoracic insufficiency due to vertebral and rib anomalies. Nearly 30 years later, in 1966, Norman Lavy and associates from Indiana University reported a similar syndrome in a family from Puerto Rico. Lavy's description was followed by a report by John E. Moseley from New York City, where the name spondylothoracic dysplasia (dysostosis) was first used. For more than half a century, there has been confusion regarding the distinction between these two phenotypically similar syndromes that cause thoracic insufficiency. Spondylocostal dysostosis (SCD), or Jarcho-Levin syndrome, causes mild to moderate respiratory insufficiency, is panethnic and has been linked to genes such as DLL3, which is known to be associated with the Notch pathway. In contrast, spondylothoracic dysostosis (STD), or Lavy-Moseley syndrome, results in more severe respiratory compromise, is largely linked to Puerto Rican cohorts and is thought to be associated to the MESP2 gene, also a Notch pathway gene. Long-term studies of Puerto Rican cohorts with STD contradicts the previously held belief that individuals affected with STD have markedly diminished life expectancy with as many as 25% surviving into later childhood and adult life.

Rudhe syndrome: reversible right middle lobe emphysema in infants with left-to-right shunts--an historical review.

In 1971, the Swedish radiologist Ulf Rudhe wrote a provocative paper on right middle lobe emphysema in infants with left-to-right shunts in which he suggested cardiac surgery rather than lung resection. At the time, this was counter to accepted medical practice. Earlier diagnosis and better medical management of ventricular septal defect in infants has proved Rudhe correct. However, two current cases of large left-to-right shunts in infants with emphysema of the right middle lobe prompt this historical review of what seemed a closed-episode in pediatric cardiac surgery.

Malrotation and midgut volvulus: a historical review and current controversies in diagnosis and management.

The complex and sometimes controversial subject of malrotation and midgut volvulus is reviewed commencing with the 19th-century Bohemian anatomist, Václav Treitz, who described the suspensory muscle anchoring of the duodenal-jejunal junction in the left upper quadrant, and continuing with William Ladd, the 20th-century American "father of pediatric surgery" who pioneered the surgical treatment of midgut volvulus. In this review, we present the interesting history of malrotation and discuss the current radiologic and surgical controversies surrounding its diagnosis and treatment. In the symptomatic patient with malrotation and possible midgut volvulus, prompt diagnosis is critical. The clinical examination and plain film are often confusing, and delayed diagnosis can lead to significant morbidity and death. Despite recent intense interest in the position of the mesenteric vessels on US and CT scans, the upper gastrointestinal series remains the fastest and most accurate method of demonstrating duodenal obstruction, the position of the ligament of Treitz, and, if the contrast agent is followed distally, cecal malposition. Controversy exists over the management of asymptomatic patients with malrotation in whom the diagnosis is made incidentally during evaluation for nonspecific complaints, prior to reflux surgery, and in those with heterotaxy syndromes.

The association between neuroblastoma and opsoclonus-myoclonus syndrome: a historical review.

An association between neuroblastoma and opsoclonus-myoclonus syndrome (OMS) was described as early as 1927 within the first report on the transformation of malignant neuroblastoma to a benign ganglioneuroma. It was not recognized at that time nor was it appreciated in the subsequent follow-up report on the same patient in 1959. Myoclonic encephalopathy of infancy, an alternative name for OMS, was described by a pediatric neurologist in 1962; however, its connection to neuroblastoma was not known. It was only in 1968 that the association between these two conditions was first reported. The neuroblastoma tumors associated with OMS are almost all small, stage I-II with no associated MYCN amplification or metastases. OMS occurs in 2-3% of patients with neuroblastoma, but neuroblastoma is found in as many as 50% of children who present with OMS. Nearly 100% of the children with neuroblastoma associated with OMS survive, and this has led to speculation that the OMS is a result of an autoimmune process, not metastases. Affected children are treated with steroids, ACTH, or intravenous immunoglobulin, but many have persistent neurologic and developmental deficits. Using the original case reported in 1927, we summarize a century of literature in this review on OMS and its association with neuroblastoma.

Iatrogenic esophageal perforation in children.

Esophageal perforation is most commonly iatrogenic in origin with nasogastric tube insertion, stricture dilation, and endotracheal intubation, being the most frequent sources of the injury in infants and children. Clinical presentation depends on whether the cervical, thoracic, or abdominal esophagus is injured. Any patient complaining of chest pain after an upper endoscopy has esophageal perforation until proven otherwise. In infants and children, plain chest films and esophagography may assist in making the diagnosis. Hemodynamically stable patients with a contained perforation may be managed medically. Free perforation and hemodynamic lability mandates a more aggressive surgical approach for wide drainage of the mediastinum and pleural spaces. Exploration of the chest for attempted direct repair of the injury is now only rarely indicated. Mortality rates have been reported between 20 and 28% with delays in diagnosis and treatment appearing to be most strongly correlated with poor outcomes.