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.     

Verluste von Plasmaeiweiß in den Magen-Darmtrakt bei Frühgeborenen

Summary The plasma protein loss into the gastrointestinal juices and/or the stool has been examined by means of direct nonradiosotopic methods in 21 premature infants, out of which 12 developing normally and 9 suffering from dyspepsia due to pathogenic E. coli. The plasma albumin amount in gastrointestinal liquids has been determined by immunoprecipitation and paper electrophoresis; the values obtained when related to albuminemia indicate socalled loss index. The loss index has been found in indirect dependence on body weight (age). The amount of amino acids in the urine determined chromatographically was expressed in the relation to the creatinine amount. The values obtained as mentioned above are taken for the index of aminoaciduria. There is a positive regressive dependence between the values of the loss index and that of aminoaciduria giving evidence of participation of plasma protein leakage into the gastrointestinal tract in the degree of aminoaciduria in prospering, especially dyspeptic premature infants.

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Herrn Doz. Dr. med. Z. Maatka zum 50. Geburtstag gewidmet     

“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.     

An international survey of gastroschisis and omphalocele (490 cases)

In an international survey of 16 pediatric surgery centers on four continents, data concerning 490 cases of gastroschisis and omphalocele has been obtained for study. In 203 cases of gastroschisis, additional malformations were found to be infrequent, comparatively mild, rarely multiple, largely limited to the eviscerated gut (atresias and stenoses), and most likely acquired as antenatal complications (volvulus) of the gastroschisis condition. These additional malformations are more properly categorized as an integral part of the gastroschisis disorder, just as is the almost universally associated intestinal malrotation. In 287 cases of omphalocele, 41 cases (14%) were classifiable as syndrome omphalocele (lower-midline syndrome, upper-midline syndrome or Beckwith-Wiedemann syndrome) and 12 cases were trisomy-associated. In omphalocele cases, additional malformations were frequent, serious and generally multiple (74%). The most frequent malformations in omphalocele cases involved the musculoskeletal/neurologic area (32%), followed by the cardiac area (16%) where the malformations tended to be both multiple and serious. In omphalocele cases, the geographic incidence both of numbers of additional malformations and multiplicity of defects was found to be rather similar, with the major geographic difference being found in the relative incidence of cases of syndrome omphalocele. Offprint requests to: T. C. Moore at the above address     

Evaluation of prognostic criteria in extrahepatic bile duct atresia

Extrahepatic bile duct atresias must be classified into four histopathological groups according to the characteristic numerical, metrical, and morphological alterations of the interlobular bile ducts. A prospective study based on an observation period of 5 and more years included 43 patients with extrahepatic biliary atresia. It showed that prognosis is generally dependent on three factors: (1) the duration of cholestasis; (2) the structure of the bile ducts in the praehilaeren Versclussplatte; and (3) the histopathologically defined features of the interlobular bile ducts. The total diameter of all bile duct structures in the praehilaeren Verschlussplatte is unmistakably the most significant finding. A total diameter of more than 400 m indicates a favorable prognostic subtype, while a total diameter of less than 400 m is unfavorable. Even if the prognostically favorable type of finding is present, the ultimate prognosis is determined by the histopathological features of the interlobular bile ducts. Therefore, four characteristic groups must be taken into consideration when evaluating prognosis.     

CT-findings in a case of clover-leaf skull

The authors report a detailed CT-investigation of clover-leaf skull and compare the findings with cases reported by others.The study was supported by Stiftung Volkswagenwerk     

Multiple skeletal anomalies in the “13q-” syndrome

A patient with the 13q- syndrome is reported. The typical association of congenital malformations was found. Multiple and unusual skeletal anomalies included absent thumbs, club-feet, coxa vara, diastasis of the pubic symphisis and extensive spina bifida occulta. These appear to be part of the multiple system involvement due to the chromosomal deletion. Chromosome analysis is indicated in patients with multiple skeletal anomalies, especially if the thumbs and radial axis are involved.(affiliated with the Hebrew University and Hadassah Medical School)     

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     

Differential effects of oestrogen treatment on the proportionality of growth in tall girls

We studied the differential inhibitory effects of conjugated oestrogens on lower leg length and standing height increments in 17 excessively tall girls compared to a control group of 17 tall healthy untreated girls. Standing height, lower leg length and body weight were recorded at weekly or monthly intervals. Standing height velocity dropped from 150 m/day to 122 m/day, whereas daily weight gain increased from 17 to 48 g/day during oestrogen treatment. The oestrogen induced decrease of standing height velocity could be explained by a marked inhibition of lower leg growth velocity from 42 m/day to 30 m/day (native data) or 35 m/day to 8 m/day (data corrected for weight gain) (P<0.001), whereas no differences of trunk growth velocity could be detected. Thus, the findings strongly suggest that pharmacological doses of oestrogens only affect epiphyseal growth.     

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 γ-chain heterogeneity of haemoglobin F in German infants

-chain heterogeneity of haemoglobin F was studied in German full-term and preterm infants up to 12 months old. The AT-gene frequency calculated was about 19%. In most cases with AI-/AT-chain heterogeneity AI-chains predominated over AT-chains. There was no difference between infants with or without the AT-chain concerning haemoglobin F-concentration, F-cell percentage or G-chain percentage. The G-chains accounted for 69.2%±3.3% (SD) of the total -chains in full-term newborn infants with a decrease to 42.5%±6.5% during the first 6 months. Comparison of the G-chain decrease in preterm and in full-term newborn infants suggests a more pronounced decrease during extrauterine life than during the intrauterine course.Abbreviation Hb F haemoglobin F Dedicated to Professor E. Kleihauer on the occasion of his 60th birthday     

Adrenoceptors and the lung: their role in health and disease

- and -Adrenoceptors have each been divided into two subgroups (₁, ₂, ₁ and ₂). The basic mechanisms underlying the adrenoceptor/effector coupling are complex and vary for the -, but not for the -subpopulations. Adrenoceptors of the bronchi and the lung show a special pattern of distribution and response, ensuring that the airway system works as a functionary unit. Dysfunctions of adrenoceptormediated effects have been suggested to contribute to some important paediatric disorders such as hyaline membrane syndrome, wet lung, bronchial asthma, cystic fibrosis, and pertussis. Drugs which act on the adrenergic system influence some of these disorders directly. Further studies applying modern techniques to receptor research are needed in order to clarify the basic mechanisms involved in receptor-mediated lung disorders and the activity of drugs in lung tissue.Abbreviations AC adenylate cyclase - ADP adenosine diphosphate - -R -adrenoceptor - cAMP cyclic adenosine monophosphate - CF cystic fibrosis - GDP guanosine diphosphate - GTP guanosine triphosphate - IAP islet activating protein     

Biofeedback in spina bifida

The use of anorectal manometry as a biofeedback technique in the treatment of constipation and fecal incontinence in patients with spina bifida is described. The technique was applied in ten incontinent spina bifida patients aged 3 to 16 years. To evaluate our results we used the concept of controlled incontinence, i.e., voluntary defecation at set times, with the patient remaining clean the rest of the time as a base. A total of 80% satisfactory results was obtained. Offprint requests to: J. M. Gil-Vernet     

The role of labor in gastroschisis bowel thickening and prevention by elective pre-term and pre-labor cesarean section

Twelve consecutive cases of gastrochisis seen during the past 3 years are reported. Four were managed by elective pre-term and pre-labor cesarean section as soon as lung maturity was established by biochemical means and 8 by delivery after the onset of labor, 4 by vaginal delivery and 4 by cesarean section. There was no intestinal thickening or peel in any of the 4 infants born by elective pre-term and pre-labor section. All were quickly and easily repaired (the last 3 with umbilicus preservation) with no associated atresias or stenosis and with minimal length of hospitalization. The 8 cases delivered after the onset of labor all had marked instestinal thickening, 2 (25%) had severe and extensive intestinal necrosis or atresias (apple-peel), and 1 died (12.5%). All had prolonged and complicated hospital stays with multiple operations. The routine use of elective pre-term and pre-labor section in all cases of gastroschisis diagnosed prenatally by -fetoprotein (AFP) screening and ultrasound is strongly recommended, as are routine AFP screening and ultrasound studies during pregnancy.     

Histochemical and immunohistochemical studies of four proteins (S100-α protein,carbonic anhydrase III,enolase β-subunit,and creatine kinase M-subunit) in rhabdomyosarcoma

Four proteins, the -subunit of S100 protein (S100-), carbonic anhydrase III (CA-III), the -subunit of enolase (EN-), and the M-subunit of creatine kinase (CK-M), are characteristic of skeletal muscle tissue or components. Histochemical studies of human skeletal muscle fibers have shown that S100- and CA-III are localized in type 1 fibers, EN- in type 2 fibers, and CK-M in both fibers. These four proteins were evaluated as markers for rhabdomyosarcoma by enzyme immunoassay and immunohistochemistry. Concentrations of EN- and CK-M were significantly higher in rhabdomyosarcoma than in neuroblastoma or Wilms' tumor. Staining for S100- and CA-III was limited to tumor cells with abundant eosinophilic cytoplasm in most rhabdomyosarcomas. EN- and CK-M staining was also found in several small, round and short, spindle-shaped tumor cells. S100-, CA-III, EN-, and CK-M were demonstrated immunohistochemically in 4 (27%), 7 (47%), 14 (93%), and 12 (80%) of 15 rhabdomyosarcomas, respectively. Our results indicate that EN- is the most useful marker among the four proteins for diagnosing rhabdomyosarcoma.     

Hemihypertrophy in a boy with renal polycystic disease: Varied patterns of presentation of renal polycystic disease in his family

Hemihypertrophy is a condition that has been described in association with a variety of other malformations and diseases; quite often these have had a renal origin. — It is the purpose of this paper to record and discuss the occurrence of polycystic disease in a family, to note that the disease was manifest as either the adult or the infantile form, and detail the fact that one member of the family who had infantile type polycystic disease also had hemihypertrophy. —The pattern of inheritance of renal polycystic disease, its age at presentation and the variation in the boy of its manifestation with the passage of time are discussed. The need for caution in offering a prognosis and genetic counselling is stressed.     

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     

Reaktive eosinophile Leukocytosen im Kindesalter

Zusammenfassung Nach Literaturübersicht der mit maximaler Eosinophilie verlaufenden Krankheitsbildes, insbesondere des Kindesalters, wird auf den Begriff des eosinophilen Leukämoids im Rahmen der allergisch-hyperergischen Krankheitssyndrome näher eingegangen und vorgeschlagen, ihn durch die Bezeichnung reaktive eosinophile Leukocytose zu ersetzen, wobei als Sondergruppe des Kleinkindesalters das Eosinophilie-Hepatomegalie-Syndrom herausgestellt wird entsprechend dem Löfflerschen eosinophilen Lungeninfiltrat des späteren Kindes-und Erwachsenenalters.Auf Grund einer reaktiven eosinophilen Leukocytose infolge zunächst latenter Trichocephaliasis bei gleichzeitiger Primärtuberkulose der Lunge eines 2jährigen Kleinkindes wird zur Frage eines in diesem Fall zu negierenden Zusammenhangs zwischen tuberkulöser Erkrankung und reaktiver Eosinophilie Stellung genommen. Die durch den Entwicklungsgang und spärlichen Befall durch Trichocephalus dispar mögliche Latenz, auf die zunächst nur aus einer im Titer ansteigenden positiven Komplement-bindungsreaktion auf Nematoden geschlossen wurde, kann u. U. bei familiären Eosinophilien ätiologisch bedeutungsvoll sein, wie die beobachtete intrafamiliäre Trichocephaliasis aufzeigt.     

Serum ferritin and iron status of children in the Faroe Islands

Iron status was assessed by measurement of serum ferritin (S-ferritin), transferrin saturation and haemoglobin (Hb) in 270 healthy Faroese children (153 , 117 ) 4, 8 and 13 years old. There were no significant differences between the three variables in boys and girls. Geometric mean S-ferritin increased from 16 g/l in 4-year-old children to 21 g/l in 8-year-old (P<0.01) and 25 g/l in 13-year-old children (P<0.05). Likewise Hb displayed a gradual increase with age (P<0.001); the arithmetic mean Hb was 129 g/l in 4-year-old, 137 g/l in 8-year-old, and 143 g/l in 13-year-old children. Depleted iron stores (i.e. S-ferritin<12 g/l) were present in 21.5% of 4-year-old, and in 12.7% of 8 and 13-year-old children. Latent iron deficiency (i.e. S-ferritin<10 g/l and transferrin saturation<10%) was found in 3.1% of 4-year-old and in 0.5% of 8 to 13-year-old children. None of the children had iron deficiency anaemia. A high dietary intake of animal protein probably explains the low prevalence of iron deficiency.     

Childhood neuromuscular disease with rimmed vacuoles

A 5-year-old boy suffered from a slowly progressive non-familial neuromuscular disease, clinically marked by generalised muscle weakness, atrophy and hypotonia, a myopathic EMG and mildly elevated CK values. His gastrocnemius muscle showed marked myopathy, type I fibre predominance, and numerous rimmed vacuoles. This boy's condition is regarded as a childhood neuromuscular disease with rimmed vacuoles.This paper has been presented at the Annual Meeting of the German Society of Neuropathologists, Bremen, June, 1984