The management of necrotizing enterocolitis by “patch,drain, and wait”

The operative management necrotizing enterocolitis continues to be associated with substantial mortality and many difficulties. A new approach is presented with illustrative cases. Neither resection nor enterostomy is a part of this approach, which emphasizes maximum salvage of compromised intestine. Major features of this method are prolonged hyperalimentation, gastrostomy, minimal bowel handling, transverse approximation (patching) of the upper and lower margins of a limited number of major perforations, and extensive and prolonged drainage of the peritoneal cavity by Penrose drains placed from both diaphragms to exit sites in the inferior aspects of both lower quadrants. Enteric fistulas developed in the majority of cases presented (4/5) and were captured by one or both of the Penrose drains with disappearing peritonitis and the formation of de facto enterostomies at one of the drainage sites (generally the left side). De facto enterostomies that did not close spontaneously were closed operatively. This approach may also be of value in the management of midgut volvulus with extensive vascular compromise of the midgut.     

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     

Relationship between café-au-lait spots as the only symptom and peripheral neurofibromatosis (NF1): A follow-up study

We re-examined 21 children with the possible diagnosis of peripheral neurofibromatosis (NF1) based on the presence of cafè-au-lait (CAL) spots as the single clinical finding. We evaluated whether typical or atypical appearance of the spots was important for the final diagnosis and whether the co-existence of other nonspecific signs (e.g. pectus excavatum) were of any significance for the final diagnosis. In 8/14 (57.1%) cases with typical CAL spots, the diagnosis of NF1 was finally established on the basis of other criteria. For the other 6 patients the diagnosis is not yet definitive but highly probable on the basis of the presence of macrocephaly, pectus excavatum and/or MRI findings. Only one patient among five with atypical CAL spots possibly has NF1.     

Long-term functional results after perineal surgery for low anorectal anomalies

As part of a long-term follow-up review of anorectal anomalies treated at the Royal Children's Hospital, Melbourne, we examined 70 patients with translevator (low) anomalies treated by a perineal operation and assessed their anorectal function by four clinical scoring methods (Kelly, Templeton, Kiesewetter, and Wingspread). The results were compared qualitatively after conversion into three categories: good; fair; and poor. Over 90% of patients achieved socially acceptable anorectal control. The incidence of accidental defaecation was shown to be age-related, patients seen after 10 years of age having a lower incidence of soiling than younger children. The incidence of smearing or staining did not diminish with age. Prolonged management was required in 5 patients who continued to have a poor level of faecal continence. Anorectal function was not adversely affected by the anterior position of the anal orifice in most patients after simple perineal surgery. Offprint requests to: S. W. Beasley     

Über das Syndrom Exomphalos-Makroglossie-Gigantismus, über generalisierte Muskelhypertrophie,progressive Lipodystrophie und Miescher-Syndrom im Sinne diencephaler Syndrome

Zusammenfassung Bericht über das 1964 neubeschriebene Syndrom Exomphalos-Makroglossie-Gigantismus an Hand von drei Geschwisterfällen, von denen einer zwischenzeitlich weiterverfolgt und eingehend untersucht werden konnte. Nachweis normaler STH-Ausschüttung, beträchtlicher Hyperlipidämie und einer prädiabetischen Stoffwechsellage. Vergleichende Betrachtung des sog. cerebralen Gigantismus und besonders der konnatalen generalisierten Lipodystrophie, die in verschiedenen Spielarten (kongenitale generalisierte Muskelhypertrophie, konnatale progressive Lipodystrophie ohne Gigantismus und ohne Knochenkernentwicklungsbeschleunigung, lipatrophischer Diabetes mellitus mit Acanthosis nigricans) kasuistisch dargelegt und erörtert wird, die letztgenannte Form an Hand von Geschwisterfällen mit Insulinantikörpernachweis bei einem der Kinder.Die generalisierte Lipodystrophie wird als Hauptvertreter einer Krankheitsgruppe gesehen, deren Gruppendiagnose durch den Nachweis von drei der folgenden großen Symptome ermöglicht wird: Panniculusmangel, Hepatopathie, Muskelhypertrophie, Kohlenhydratstoffwechsel-störung, passagere Makrosomie nebst Knochenkernacceleration, Akromegaloid und Encephalopathie. Auf Grund ihrer gruppengemeinsamen Züge werden das Exomphalos-Makroglossie-Gigantismus-Syndrom, der cerebrale Gigantismus, die angeborene progressive totale Lipodystrophie mit gewissen Fällen von generalisierter Muskelhypertrophie, Miescher-Syndrom, Leprechaunismus und diencephales Abmagerungssyndrom von Russell unter dem Oberbegriff der konnatal-diencephalen Syndrome zusammengefaßt.

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Exomphalos-makroglossy-gigantism-syndrome, generalized muscular hypertrophy, progressive lipodystrophy and miescher's syndrome —Congenital diencephalic syndromes?

Summary In 1964 the senior author first described the syndrome of exomphalos, makroglossy and makrosomia which later was found to be associated with visceromegaly and hypoglycemia of the newborn. The present report describes the further course of the surviving patient. Additional features such as genital hypertrophy and a status of impaired glucose tolerance put the syndrome in close relationship to progressive generalized lipodystrophy and lipoatrophic diabetes with or without congenital muscular hypertrophy. Several patients with congenital total lipodystrophy and/or congenital generalized muscular hypertrophy are described in detail, including two siblings with lipodystrophy, acanthosis nigricans and insulin-resistent diabetes (Miescher's syndrome). The main features of these syndromes are lipodystrophy, liver disease, muscular hypertrophy, disturbed carbohydrate metabolism, (transient) growth spurt with accelerated bone maturation, acromegaloid features and cerebral affections. Wide individual, developmental and intrafamilial variability as well as additional minor symptoms create however a wide spectrum of disease. Considering the major features common (though in varying completeness) to all of the syndromes the authors raise the question of a common pathogenetic mechanism. Together with cerebral gigantism and Russell's syndrome the exomphalos-makroglossy-gigantism-syndrome and congenital generalized lipodystrophy are regarded as examples of congenital diencephalic syndromes of childhood.

     

激素局部注射治疗儿童瘢痕的疗效分析

目的 探讨肾上腺皮质激素(醋酸曲安奈德)局部注射对儿童增生性瘢痕、瘢痕疙瘩的治疗效果及预防瘢痕形成的疗效。方法 对增生性瘢痕、瘢痕疙瘩及预防性注射治疗的患儿473例，共行1514次醋酸曲安奈德局部注射，观察临床效果并进行回顾性分析、评价和总结。结果 增生性瘢痕治疗效果良好，有效率达100％，对关节部位瘢痕的挛缩有明显减轻和预防的作用。瘢痕疙瘩直接注射效果较差，手术切除术后，进行预防性注射可收到良好效果。其余手术后经预防性注射，无增生性瘢痕发生。注射期间28例出现早期Cushings综合征表现，停药半年后消失，随访5年以上，无生长发育异常。结论 小剂量激素局部注射是治疗和预防儿童增生性瘢痕、瘢痕疙瘩的较为安全、可靠、有效的非手术治疗方式之一。     

Die β-Aktivität im EEG des Kindes

Zusammenfassung -Wellen stellen im EEG des Kindes eine labile Aktivitätsform dar. Sie können sowohl spontan erscheinen, als auch durch Reize verschiedener Qualität provoziert werden. Für eine exakte Analyse eignen sich nur die spontanen -Wellen des EEG im Wach-und Schlafzustand, deren formale und topographische Merkmale in den einzelnen Altersstufen aufgezeigt werden. Während die Lokalisation der -Wellen mit geringen Ausnahmen bei allen Kindern über den vorderen Hirnregionen liegt, variieren Frequenz und Amplitude innerhalb bestimmter Grenzbereiche. Die Normalkriterien der spontanen -Aktivität beim Kinde bilden die Grundlage für die Erkennung anormaler -Wellen, wie sie bei cerebralen Erkrankungen auftreten können.     

Recombinant human interferon-γ treatment in severe leucocyte adhesion deficiency

We describe a patient with leucocyte adhesion deficiency (LAD). Clinically, the patient had delayed umbilical cord detachment, omphalitis, impaired wound healing and persistent leucocytosis. The patient had the severe form of LAD, with a total absence of leucocyte cell adhesion molecules (LeuCAMs) and undetectable mRNA for the chain, the common subunit of the LeuCAMs. In vitro neutrophil chemotaxis, aggregation and oxygen consumption were severely impaired. In vitro incubation of neutrophils with recombinant human interferon- (rIFN-) showed an increase in oxygen consumption, but no effect on the expression of the LeuCAMs, or the chain mRNA. In vivo treatment with IFN- was started. The FcRI receptor appeared on the neutrophils, the LeuCAMs remained undetectable, while the neutrophil functions remained disturbed. The patient died of surgical complications after 10 weeks of rIFN- treatment. No new infections or side-effects due to rIFN- were observed.     

Sonographic findings of adrenal cortical carcinomas in children

Fourteen children with adrenal cortical carcinoma were evaluated by ultrasonography. The neoplasms, 2.5 cm–19 cm in maximum diameter, were all well circumscribed. The four smaller lesions were either homogeneously hypoechoic (2 patients) or generally hyperechoic (2 patients). In the 10 patients with larger tumors, a complex predominantly echogenic pattern was demonstrated, eight of which contained radiating linear echoes, the scar sign. This finding, although not specific, when present in a large adrenal mass, is suggestive of a cortical carcinoma. Associated findings of vascular invasion or retroperitoneal adenopathy supported the diagnosis of a malignant adrenal neoplasm in 3 patients.     

The development of skeletal muscles in premature infants

Biopsies from various skeletal muscles were taken post mortem from infants with conceptional ages between 25 and 40 weeks. Cryostat sections were analysed quantitatively. The growth of the mean fibre diameter follows an exponential curve, which is mainly due to an initial predominance of type II-fibres. Before the 34th week of gestation only isolated large Wohlfart-fibres show type I staining characteristics. A great number of smaller type I-fibres appear suddenly around the 34th week. Their percentage of the total fibre population increases linearly to 40% at term. The development of the tonic type I-fibres correlates with certain aspects of gross motor development. The importance of normal data in the diagnosis of certain congenital myopathies is emphasized.This work was supported by the Deutsche Forschungsgemeinschaft, SFB 33     

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     

Later potentials on signal-averaged electrocardiograms in children after right ventriculotomy

After corrective surgery for congenital heart defects, scars may create fractionation and delay of the electrical signals in the heart muscle, providing a substrate for arrhythmias. Signalaveraged electrocardiograms (SAECGs) were obtained from 33 children after right ventriculotomy, on average 6 years after surgery, and from 38 healthy controls of the same age. The duration of the filtered QRS complex (fQRS), the duration of the low amplitude signal (<40V) in the terminal QRS complex (LAS40), and the root mean square amplitude of the terminal 40 ms of the QRS complex (RMS40) were determined. The values of fQRS 117 ms, RMS4025V, and LAS4035 ms, which were beyond the mean ±2 SD of the healthy controls, were considered abnormal. Most patients had right bundle branch block and therefore a prolonged fQRS. Late potentials were defined as present if both the RMS40 and LAS40 were abnormal. Altogether nine patients (27%) had late potentials. In the patients with late potentials the incidence of serious ventricular arrhythmias was 44% (4 of 9) and in the patients without late potentials 0% (0 of 24). In seven patients with enlargement of the right ventricle, the incidence of arrhythmias was 57% (4 of 7) when late potentials were present and 0% (0 of 7) when they were absent. In the present study late potentials were associated with a history of arrhythmias, especially when the right ventricle was enlarged. Therefore the SAECG may be useful for determining the risk of serious arrhythmia events in children operated for congenital heart defects.     

New observations on midline defects: Coincidence of anophthalmos,microphthalmos and cryptophthalmos with hypothalamic disorders

Four children with severe congenital eye anomalies are described of which three had related symptoms. Two had bilateral anophthalmia, the optic nerves not detectable by computed cranial tomography and magnetic resonance imaging, and the third child had bilateral microphthalmia and coloboma iridis. The fourth patient had bilateral cryptophthalmia as part of Fraser syndrome. All four patients were of small stature. In three of them growth hormone deficiency was demonstrated which was of hypothalamic origin as shown by growth hormone releasing hormone tests. In the fourth child hypogonadotropic hypogonadism and tertiary thyroid deficiency were diagnosed which responded well to thyroxine treatment. Pathogenetically the described disorders are due to congenital defects of midline structures as a common developmental field.Dedicated to Professor Dr. D. Schönberg on the occasion of his 60th birthday     

Die Sprachstörungen im Kindesalter

Zusammenfassung Nach einem kurzen historischen Überblick über das Schrifttum, welches sich mit den kindlichen Sprachstörungen und Sprachentwicklungsstörungen beschäftigt, wird der Vorschlag eines ätiologischen Einteilungsprinzips gemacht und begründet. Es werden vier typische Krankheitsbilder, eine kindliche Aphasie, eine Sprachentwicklungsbehinderung, eine Sprachentwicklungsverzögerung und eine angeborene Schreib-Lese-Schwäche geschildert.Differentialdiagnostisch läßt sich abschließend sagen, daß man von Aphasie, Agraphie und Alexie im Kindesalter nur dann sprechen sollte, wenn die Kinder vor ihrer Erkrankung sprechen, schreiben und lesen gelernt hatten. Standen sie beim Einsetzen eines Hirnschadens noch vor der Erlernung dieser Fähigkeiten, dann sollte man die Bezeichnungen Sprachentwicklungsbehinderung und Erlernungserschwerung des Schreibens und Lesens gebrauchen. Nur wenn es sich um eine Sprachentwicklungsstörung ohne durchgemachten frühkindlichen Hirnschaden handelt, ist der Ausdruck Sprachentwicklungsverzögerung angebracht. Die angeborene Schreib-Lese-Schwäche ist ebenfalls eine anlagemäßige Entwicklungsverzögerung ohne nachweisbaren Hirnschaden, der sich in der Regel aber auf die Schriftsprache beschränkt.

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Summary After a short historical survey on the literature relating to the speech disturbances and troubles of speech evolution in childhood, the proposal is given and justified to establish an etiological divisional principle. Four typical types of diseases, an aphasia in childhood, a speech developmental hindrance, a speech developmental retardation and a congenital wordblindness are illustrated. Refering to the differential diagnosis it can be finally said that one shoud only speak of aphasia, agraphia and alexia in childhood if the children could speek, write and read before the begin of the disease. If the brain damage before the learning of these capacities one shoud, use the terms Speech developmental hindrance (Sprachentwicklungsbehinderung) and Difficulty in learning write and read. Only if the disturbance of the evolution of speech originated without brain damage, the term Speech developmental retardation is justified. The congenital word-blindness is also a retardation of evolution without visible brain damage which is as a rule limited to the written language.

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Abteilung Gesundheitspflege des Landschaftsverbandes Rheinland (Leiter: Landesrat Prof. Dr. H. W. Müller), Referat ärztliche Sprachheilbehandlung mit klinischer Abteilung für Sprachgestörte in Langenfeld und Ambulanz für Sprachgestörte in Bonn (Leiter: LMedDir. Prof. Dr. A. LEISCHNER)     

Pharmacodynamics and pharmacokinetics of esmolol,a short-acting β-blocking agent,in children

Summary Esmolol, a short-acting intravenous cardioselective -blocking agent, was evaluated for age-dependent pharmacodynamic and pharmacokinetic features in 17 young patients (6 months to 14 years). A loading dose (500 g/kg/min) alternating with a maintenance dose (25–200 g/kg/min, titrating by 25 g/kg/min every 4 min) was infused until the heart rate or mean arterial pressure decreased 10%. Cardiac index, left ventricular shortening fraction, and systemic vascular resistance were measured at baseline, peak esmolol effect, and recovery. Serum esmolol concentrations were obtained to determine the half-life and the elimination rate constant.Esmolol reduced the heart rate, blood pressure, shortening fraction, and cardiac index in all patients, but it did not change systemic vascular resistance. Maintenance esmolol dose was 118 ±49 g/kg/min, and the half-life was 2.88±2.67 min. Blood pressure and heart rate returned to normal within 2–16 min, but cardiac index and shortening fraction took longer to recover. There were no statistically significant age-dependent pharmacodynamic effects, but blood pressure decreased prior to heart rate and cardiac index took longer to recovery in patients who weighed15kg. The pharmacokinetic profile in young patients was similar to that of older patients, but the half-life was shorter. The only side effeect was transient nausea and vomiting in one patient. Esmolol is a safe and efficacious -blocking agent in young patients.     

Familial bilateral renal agenesis and hereditary renal adysplasia

This paper reports three kindreds (A, B, C) with familial bilateral renal agenesis (BRA). Etiologically, BRA is considered a multifactorially determined disorder; pathogenetically it is viewed as a developmental field defect involving absence of both kidneys and ureters in all cases, and in other cases an associated spectrum of related field defects which range from absence of the uterus and vagina to sirenomelia. In BRA, Potter's syndrome represents a symptomatic deformity complex due to oligohydramnios.Two additional kindreds (D and E) in this paper show that unilateral absence of a kidney may occur in relatives of a propositus with severe bilateral renal adysplasia. The former defect is designated unilateral renal aplasia and is presumed to be a less severe form of bilateral renal adysplasia. In these two families, and in two others from the literature, autosomal dominant inheritance seems responsible for the presence of unilateral aplasia and bilateral adysplasia in different family members; this newly recognized genetic trait, is being designated hereditary renal adysplasia (HRA). In women with unilateral renal aplasia the associated tubal and uterine malformation may be responsible for prematurity plus an increased risk of spontaneous abortion.The opinions or assertions in this paper are those of the authors and are not to be construed as official or reflecting the views of the Navy Department or the Naval Service at large.Supported, in part, by NIH Grants GM 15422, 5 K04-HD 18982, and by a Grant from the National Foundation — March of Dimes. Contributed, in part, as paper No. 1609 from the University of Wisconsin Genetics Laboratory.     

Sonography of the circumrenal and horseshoe adrenal gland in the newborn

The adrenal gland can be visualized using ultrasonography in at least 90% of fetuses of more than 26 weeks gestation. The fetal and neonatal adrenal gland is described as a structure having a characteristic V or Y shape. Despite the frequency of visualization of the neonatal adrenal gland, few reports of adrenal anomalies are present in the radiologic literature. The purpose of this paper is to describe and depict the sonographic appearance of the horsedhoe and the circumrenal adrenal gland and to discuss adrenal anomalies in general.     

Hirschsprung's disease

From 1972 to 1985, 214 patients were treated for Hirschsprung's disease. One patient underwent a Swenson pull-through operation, 13 a Soave procedure, and 195 had modifications of the Duhamel procedure. Six children are newly diagnosed and awaiting definitive therapy. Of the patients in whom a modified Duhamel procedure was performed, 153 were males (78%) and 7 (4%) had Down's syndrome. There was no operative mortality for the procedure, and only 4 late deaths have been observed (3 with Down's syndrome). Fecaloma occurred in 12 of 14 patients who underwent the classic operation described by Duhamel, and postoperative enterocolitis was noted in 4 of 6 patients who had Martin's long Duhamel modification for total colonic aganglionosis. No urologic problems or anastomotic leaks were identified, and only 1 patient developed a rectal stricture postoperatively. Growth and development and fecal continence have been excellent in the vast majority of patients. The modified Duhamel pull-through operation is associated with excellent survival and highly acceptable long-term function. Offprint requests to: D. W. Vane at the above address     

A new familial intrauterine growth retardation syndrome the “3-M syndrome”

Two pairs of siblings are described with proportionate dwarfism due to skeletal hypoplasia of prenatal onset. The head size was normal for age and disproportionately large for height. The patients had a characteristic face different from that seen in the Silver-Russell syndrome. The family data are in accordance with autosomal recessive inheritance. In spite of some similarities, the bulk of clinical and genetic evidence suggests that the described intrauterine growth retardation syndrome is different from the Silver-Russell syndrome and presents an apparently new entity which has been designated 3-M syndrome.Supported, in part, by PHS/NIH Grant GM 20 130. Paper No. 1973 from the Genetics Laboratory, University of Wisconsin, Madison. Regarding the term 3-M Syndrome see addendum.     

Robinow or “fetal face syndrome” in a male infant with ambiguous genitalia and androgen receptor deficiency

Typical features of the fetal face or Robinow syndrome are reported in a male infant who presented with ambiguous genitalia and persistence of the Mullerian ducts. Histology of the testes was normal whereas endocrinological studies showed partial deficiency of androgen receptors.Dedicated to Professor Dr. K. Stehr on the occasion of his 60th birthday