Radionuclide diagnosis of infradiaphragmatic total anomalous pulmonary venous drainage

Summary We hypothesized that infradiaphagmatic total anomalous pulmonary venous drainage (ITAPVD), because of its unique physiology, could be diagnosed with radionuclide angiography. Seven neonates with severe respiratory distress were injected intravenously with 3 mCi technetium-99m pertechnetate. In each of four neonates demonstrated to have ITAPVD by pulmonary angiography, nuclide recirculation through the right atrium occurred 3–6 s after initial passage. In addition, direct visualization of the anomalous common pulmonary trunk with nuclide as a tail below the diaphragm was obvious in the third infant studied. This prompted review of the first two infants with ITAPVD; in retrospect the anomalous trunk was also visualized with nuclide in both of these infants. All three were injected via the upper extremity. In the fourth ITAPVD infant, nuclide was injected via the lower extremity. In that infant, preferential streaming of the inferior vena caval flow and nuclide across the foramen ovale into the left heart led to simultaneous opacification of anomalous trunk and descending aorta, obscuring the tail sign.     

Chest X-ray film patterns in children with isolated total anomalous pulmonary vein connection

Chest-X-ray films of 61 children with isolated total anomalous pulmonary vein connection (TAPVC) were re-evaluated retrospectively. A small heart silhouette with normal pulmonary perfusion and signs of pulmonary oedema is typical of TAPVC with obstruction. There is no typical pattern in TAPVC without obstruction. The snowman or figure of eight does not develop within the first months of life.     

Oesophageal lung with systemic arterial blood supply

An adolescent girl with congenital bronchopulmonary-foregut malformation (BPFM) is reported. The patient had a hypoplastic, non-functioning right lung with the main bronchus originating from the oesophagus. The pulmonary artery of the oesophageal lung was supplied by systemic circulation from the descending aorta, and the venous flow drained through a hypoplastic right pulmonary artery (RPA) into the large left pulmonary artery (LPA). This case was a rare type of left-to-right shunt and demonstrates that oesophagography, pulmonary angiography and aortography are important in demonstrating the haemodynamics involving this malformation.     

Tumour necrosis factor in neonatal listeriosis: a case report

A newborn with fatal neonatal listeriosis developed septic shock, neutropenia, thrombocytopenia and profound hypoxaemia due to severe pulmonary hypertension. Tumour necrosis factor , interleukin-1- and interferon- serum concentrations were markedly elevated, suggesting the participation of these cytokines in the aetiopathogenesis of shock induced by Listeria monocytogenes in the neonate.Abbreviations IFN- interferon- - IFN- interferon- - IL-1 interleukin-1 - MPA monocytosis producing agent - TNF- tumour necrosis factor      

Aortic origin of the RPA: Immediate resolution of severe pulmonary artery hypertension by surgical repair

Summary Aortic origin of the right pulmonary artery (AORPA) is a rare condition requiring a high index of suspicion for diagnosis as the usual signs of structural heart disease are often absent. Ultrasound examination can strongly suggest the condition but can easily be misinterpreted. Infants should be considered operable even when the resistance calculations predict otherwise as there appears to be a large component of immediately reversible pulmonary artery hypertension. With technical skills learned from arterial switch operations (for transposition of the great arteries), surgical repositioning of the RPA should be possible in nearly all cases without the use of a tube graft.     

Aortico-right ventricular tunnel and critical pulmonary stenosis: Diagnosis by two-dimensional and Doppler echocardiography and angiography

Summary An infant with aortico-right ventricular (AO-RV) tunnel and critical pulmonary stenosis presented with severe distress at birth. We present the clinical, echocardiographic, and angiographic features, correlated with autopsy findings. Also we discuss the differentiation from other AO-RV communications and a theory for the embryogenesis. AO-RV tunnel should be considered in the differential diagnosis of a critically sick newborn with cyanosis, a to and fro murmur, and signs of right heart failure. The correct diagnosis can be made echocardiographically by demonstrating the two ends of the tunnel connecting the aorta and a dilated RV, two normal coronary arteries, and obtaining high-velocity systolic and diastolic Doppler flow signals in the tunnel. Surgical repair of this lesion is possible, and early diagnosis and a modification of the surgical procedure may help survival.     

An infant with two “half-hearts” who survived for five days: A clinical and pathological report

Summary The case of a five-day-old boy with two half-hearts, diagnosed at necropsy but not clinically, is presented. Each half-heart was totally separated from the other and each had a single atrium and ventricle. The two half-hearts were enveloped in a common pericardium. The left-sided atrium and the right-sided atrium had the morphologic characteristics of left and right atrium, respectively, but the morphology of the two ventricles was less characteristic. There were double truncuses and double superior and inferior venae cavae, too. Pulmonary venous drainage was totally anomalous; splenic abnormalities were not found. An embryologic lack of fusion of the primitive cardiac tubes is a possible starting point for these malformations.     

„Ich habe alles nur aus absolutem Mitleid getan“

ZusammenfassungHintergrund Eine Form der systematischen Tötung somatisch oder psychisch Kranker zurzeit der nationalsozialistischen Herrschaft ist die Kindereuthanasie in Kinderfachabteilungen, die durch einen Reichsausschuss eingesetzt wurden.Methoden Die Auswertung von Krankengeschichten, Korrespondenzen Vernehmungs- und Sektionsprotokollen gibt für eine Kinderfachabteilung Bayerns, Kaufbeuren-Irsee, Aufschluss über deren Beitrag zur und dem Umfang der Euthanasie im nationalsozialistischen Medizinwesen.Ergebnisse Zwischen 1941 und 1945 wurden dort 221 Kinder durch Applikation von Pharmaka (Veronal, Luminal, Skopolamin) und Nahrungsentzug ermordet. Die Kinder der Anstalt wurden zudem Opfer von Tb-Impfexperimenten. Ihre Organe waren Gegenstand medizinischer Forschung im Hirnpathologischen Institut der Deutschen Forschungsanstalt für Psychiatrie, München.Schlussfolgerungen Die Ergebnisse lassen sich auf Grundlage weiterer Studien verallgemeinern: Kinderfachabteilungen leisteten einen systematischen Beitrag zur Euthanasie, waren Labor für Humanexperimente und Organpräparatelieferanten.Die hier dargestellte Version des Beitrags weicht in folgenden Punkten von der am 26. Juni 2004 publizierten ab:In der am 26. Juni 2004 publizierten Version des Beitrags wurde im Abschnitt Humanexperimente, im Abschnitt Neuropathologische Forschung sowie im Literaturverzeichnis die Referenz 13a versehentlich nicht angegeben.     

The developmental change in the Gγ and Aγ globin. Proportions in hemoglobin F

The proportions of ^G and ^A globins in hemoglobin F were determined in fetuses around the 20th week of gestation, newborns, and children 3 weeks to 5 months of age. In the last group, the ^G/^G + ^A ratio decreased continously; there was a good correlation between the decline of ^G with respect to total and the decline of Hb F (r=0.88). In contrast, there was virtually no difference in the globin composition of Hb F between the fetuses and the newborns, i.e. in late pregnancy, the decrease in the synthesis of both globins appears to be proportionate. The ^G and ^A globin genes may be inactivated in a sigmoidal fashion with time, thus producing a ^G/^G + ^A ratio which at first changes only slightly and then declines linearily.Supported by a grant from the Deutsche Forschungsgemeinschaft (Je 56/10)     

Serial section-reconstruction of anomalous tracheobronchial branching patterns from CT scan images: Bridging bronchus associated with sling left pulmonary artery

The use of the technique of wax-plate serial section-reconstruction, based on contiguous axial plane CT images of the upper thorax, to prepare a replica of the central air-way (trachea and major bronchi) of an infant with sling left pulmonary artery type 2B, with bridging bronchus, abortive right main bronchus, and tracheal stenosis due to absence of the tracheal pars membranacea with ring tracheal cartilages is described. The technique is applicable to demonstration of the anatomic features of other abnormalities of branching pattern or caliber of the trachea and major bronchi.     

“Inborn errors of metabolism” and “chemical individuality” two ideas of Sir Archibald Garrod briefly revisited 50 years after his death

Two ideas of Sir A. Garrod, chemical individuality (1902) and inborn errors of metabolism (1908) have proved fundamental for the development of medical knowledge. The latter idea was more fortunate than the former which, however has been extremely heuristic. On the other hand the two ideas are not entirely independent of each other: in fact, a third Garrodian concept, inborn factors in disease, represents a significant link between them. Inborn errors of metabolism revived the laws of genetics and opened the way to interpretation of the molecular diseases with all their inherent practical modern implications (neonatal screening, prenatal diagnosis, and in perspective, genetic engineering). Chemical individuality still constitutes a valid premise for knowledge of biological individuality (in other words, the biological ego) fundamentally programmed for conservation of self and for continuous discrimination of self versus non-self.     

Zur konstitutionellen Dysotosis enchondralis,insbesondere zur Pfaundler-Hurlerschen und Morquioschen Krankheit

Zusammenfassung Eingehende Stellungnahme zur konstitutionellen Dysostosis enchondralis. Anerkennung als Dachbegriff und Befürwortung desselben. Umgrenzung seines derzeitigen Inhalts, als welcher die Dysostosistypen Ribbing und Morquio, die Dysostosis multiplex v. Pfaundler-Hurler, die Cystinkrankheit sowie bisher mehr-minder vereinzelt dastehende Beobachtungen zu nennen sind. Stellungnahme zu manchen der letzteren und zur multiplen Epiphysenstörung. Ablehnung röntgenoskopischer Unterscheidungsmöglichkeit zwischen Formen mit epiphysär, meta- und epiphysär bzw. metaphysär lokalisierten Veränderungen als klinisches Ordnungsprinzip.. —Ins Einzelne gehende Erörterung der Abgrenzung zwischen Dysostosis Morquio und dem lipoidfernen Symptomenkomplex der klassischen sowie der Spätform der Pfaundler-Hurlerschen Krankheit. Skeletröntgenoskopische Abtrennung zwischen Späthurler und Morquio erscheint vorerst unmöglich. Tabellarische Zusammenstellung der Unterschiede zwischen den genannten Affektionen. — Abschließend kurze Ausführungen zur Pleonosteosis familiaris Léri.     

Cor triatriatum associated with total anomalous pulmonary venous drainage in the setting of mitral atresia and a restrictive interatrial communication

Summary A rare variant of cor triatriatum is described in which the proximal accessory chamber received all four pulmonary veins and drained into the levoatriocardinal vein and then into the innominate vein. The distal true chamber contained the left atrial appendage. The left atrioventricular valve was atretic and the interatrial septum was restrictive.     

The value of the routine chest roentgenogram in the cardiological evaluation of infants and children. A prospective study

The value of the routine chest roentgenogram was studied in 284 patients, newly admitted to our paediatric outpatient department. Emergency patients were excluded from the study. In 141 cases the initial diagnosis after history, physical examination and ECG was no heart disease, while in 143 cases it was heart disease. After a follow up of up to 4 years, 170 children appeared to have no heart disease and 114 definite heart disease. In 7.7% of cases the chest roentgenogram made at the first visit to the outpatient department led to a change in policy, whereas in only 3.8% was the chest roentgenogram in someway helpful in establishing the correct diagnosis. Amongst those children with initial diagnosis of innocent murmur, the chest roentgenogram led to a diagnosis of heart disease in only 2.8% of cases. It is concluded that for the differentiation heart disease or no heart disease, a chest X-ray film is not indicated. In children with heart disease the chest X-ray film is also of little value, and is mostly to be used only for documentation.Partly presented at the Jahrestagung der deutschen Gesellschaft für pädiatrische Kardiologie, Düsseldorf, 1–2 Oktober 1984     

Über das “Kerbenohr” beim Exomphalos-Makroglossie-Gigantismus-Syndrom, über Ohrläppchen-Fisteln und über das Vorkommen entsprechender Erscheinungen bei anderweitigen Syndromen sowie bei Gesunden

Zusammenfassung Neben sehr deutlich ausgeprägten linearen Ohrläppchen-Einkerbungen (Kerbenohr) kommt beim EMG-Syndrom eine Fülle von kleinen Dysmorphien im Bereich der Ohrmuschel vor. Die Variabilität der Befunde ist groß, konstante Veränderungen sind nicht erkennbar. Die Kerben, Dellen, Grübchen usw. müssen dem Bereich der Auricularfisteln zugerechnet werden. Schwachformen aller im Rahmen des EMG-Syndroms beobachteten Ohrveränderungen, selten auch deutlichere Kerbenohren, lassen sich bei Gesunden und selbstverständlich ebenfalls bei kranken und speziell bei dysplastischen Kindern nachweisen. Das stark ausgeprägte Kerbenohr des EMG-Syndroms bleibt jedoch ein sehr ungewöhnliches Phänomen von hohem pathognomonischem Wert; es dürfte in etwa 50% der Fälle dieses Krankheitsbildes vorliegen. Hinweise auf autosomal-dominante Vererbung des Kerbenohrs sind gegeben.

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On the Kerben-Ohr (inherited slit-like indentations of ear-lobes) in the exomphalos-macroglossia-gigantism syndrome, on auricular fistulae and on the presence of analogous findings in other syndromes and in normal individuals

Beside slit-like indentations of the ear-lobes (Kerben-Ohr) there exist in the exomphalos-macroglossia-gigantism syndrome an abundance of minor anomalies of the auricle. There is considerable variability of the findings and no constant changes are present. The indentations, shallow grooves, small dimples etc. are variants of the auricular fistulae. Minor manifestations of all the ear-changes observed in the EMG-syndrome, and, to a lesser degree, more marked changes, are seen in normal individuals and, more frequently, in sick, and particularly in dysmorphic children. The prominent Kerben-Ohr of the EMG syndrome is, however, an extremely unusual phenomenon with pathognomonic value. It is present in approximately 50% of the cases of this condition. The Kerben-Ohr may follow an autosomal dominant mode of hereditary transmission.

Herrn Dr. Thordar Quelprud, Oslo, dankbar zugeeignet.     

Focal necroses,fatty degeneration and subendocardial nuclear polyploidization of the myocardium in newborns after β-sympathicomimetic suppression of premature labor

It has been well documented in laboratory animals that -sympathicomimetics, such as isoprenalin, can cause myocardial lesions. Other so called ₂-selective symphaticomimetic drugs, which nevertheless induced ₁-cardiostimulatory side effects, are now widely used for suppression of premature labor. We examined the hearts of 25 newborns whose mothers had been treated with -sympathicomimetics for various lengths of time (24 h to 8 weeks). Three types of lesions were detected: (1) focal subendocardial necroses (3 cases), similar to isoprenalin-induced myocardial necroses in animal experiments, (2) diffuse fatty degeneration of myocardial cells (3 cases), and (3) nuclear polyploidization in the subendocardial layer of the right ventricular wall (14 cases). However, the immediate causes of death could not be directly related to the tocolytic treatment in any of the cases.Supported by Deutsche Forschungsgemeinschaft, Grant No. Bo 395/5     

Fermoral hypoplasia-unusual facies syndrome from another viewpoint

A female infant with the femoral hypoplasia-unusual facies syndrome is presented. Most of the findings observed in this child have also been described in the caudal regression syndrome. The similarity and probable identity between these two syndromes is discussed on the basis of our patient and others from the literature.This work partially supported by the Indiana University Human Genetics Center, PHS GM 21054 and the Oral-Facial Genetics Training Grant DE 00007-2     

“Absent” pulmonary valve with atrial septal defect and patent ductus arteriosus

Summary The case of a newborn with absent pulmonary valve, atrial septal defect, and patent ductus arteriosus is reported. He underwent surgical repair at five weeks of age, with closure of the patent ductus arteriosus and porcine pulmonary valve insertion. The clinical course leads us to suggest that reduction of pulmonary artery pressure and pulmonary valve competence will lead to prompt improvement in tracheobronchial compression and respiratory symptoms; no pulmonary arterioplasty is needed.     

Renal,pancreatic and hepatic dysplasia sequence

A renal, pancreatic and hepatic dysplasia sequene (RPHD sequence) was found in a male premature baby who died a few minutes after birth. Autopsy documented multicystic dysplastic kidneys, a dysplastic pancreas with dilated ducts, cysts, fibrosis and inflammatory infiltrates, prominent portal tracts containing dilated bile ducts and hypoplastic lungs. Other organs were normal. This triad constitutes a dysplastic sequence and was first reported by Ivemark et al. [6] as familial dysplasia of kidneys, liver and pancreas. Since then, this combination of abnormalities has been named polycystic dysplasia [4] and renal-hepatic-pancreatic dysplasia [1], but mostly Ivemark syndrome [8], at the risk of being confused with asplenia-cardiac anomaly syndrome, which was reviewed by Ivemark et al. [5] and also bears Ivemark's name.Abbreviation RHPD renal pancreatic and hepatic dysplasia sequence     

The clinical phenotype of β and δβ thalassemias in Greece

Based on precise evaluation of hematological findings and clinical manifestations, the relationship between genotype and clinical phenotype was studied in 475 Greek patients with and thalassemias. Almost all known genotypes are included in this series, but the most frequent was homozygous ^th high A₂ (71.6%), ^th/^th silent (7.4%), ^th/^oth high F (6.3%) and ^th/^th Dutch (6.3%).In general, the phenotype was related to the genotype, though clinical heterogeneity was detected among patients with the same genotype. The severe type of thalassemia major was most commonly found in homozygous ^th patients mainly of ^o/^o and ^o/⁺ genotypes while homozygous ⁺ patients had milder clinical manifestation. Furthermore a small group of patients, characterized as homozygous ⁺⁺ (HbF<30%) had mild thalassemia intermedia. In addition mild thalassemia intermedia was principally related with homozygous ^oth, and compound heterozygous ^th/^th silent I, and less frequently with other genotypes such as compound heterozygous with ^th/^th Dutch, ^th/^th silent II, ^th/^th high F or Lepore.It was shown that precise genetic characterization and clinical evaluation is of primary importance in predicting the prognosis and formulating the proper treatment for the individual patient with thalassemia.