Intrahepatic hematoma: hepatic lesion in a newborn with high α-fetoprotein level

Hepatic hematomas are relatively common in fetuses and neonates; most are subcapsular in location. Sometimes their imaging features can be non-specific, so differentiation from other aggressive lesions like hepatoblastoma can be difficult, especially if there is a concurrent high -fetoprotein level. We report a case of intrahepatic hematoma with a rising -fetoprotein level.     

Über den Einfluß einer Glucocorticosteroidapplikation auf die Aktivität der α-Amylase im Serum

Zusammenfassung Bei 36 Säuglingen und Kindern, die aus klinischer Indikation eine Glucocorticosteroidbehandlung erhielten, wurde die Aktivität der -Amylase kontinuierlich über einen längeren Zeitraum messend verfolgt. Die Bestimmungen erfolgten nach der Ultramikromethode von Close u. Street. Schon zu Beginn der Steroidbehandlung steigt die Enzymaktivität bei den meisten Patienten steil an. Es besteht eine deutliche Korrelation zwischen der Dosierung und Applikationsdauer auf der einen Seite und der Höhe der Steigerung der Enzymaktivität auf der anderen. Für die statistische Auswertung wurden die von Kleinbaum ermittelten Normalwerte für das Säuglings- und Kindesalter herangezogen. Neunmal wurden Werte über 100 SCE gefunden, die als Ausdruck einer Pankreasmitbeteiligung interpretiert werden. Einige Gedanken zum Wirkungsmechanismus der Glucocorticosteroide auf die Pankreasfunktion werden an Hand der eigenen Befunde und der Berichte aus der Literatur diskutiert.

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The influence of glucocorticosteroid application on the activity of -amylase in the serumII. Determinations on sick infants and children treated with prednisone

Summary Following our experiments in rabbits, where a significant increase in -amylase activity was observed, we determined the activity of the enzyme in 36 infants and children who received prednisone therapy during the clinical treatment of the disease for which they had been admitted to hospital. The determinations were carried out using the ultra-micro method by Close and Street. From the very beginning of the treatment with glucocorticosteroids the activity of -amylase in the serum increased rapidly. A distinct correlation between dosis and duration of the application of the hormone and the increase of enzyme activity was observed. A moderate rise in the activity of -amylase cannot be related to the application of glucocorticosteroids. In a group of children suffering from pneumonia some were treated with antibiotics and prednisone, others with antibiotics only. In both groups most children showed increased levels of -amylase.In 9 out of 36 infants and children values of over 100 SCU (Street Close Units) were found under therapeutic dosage of glucocorticosteroids. Such values are only observed in acute inflammatory processes of the excretory pancreas.Some points in our results are discussed in the view of findings and reports in the literature.

     

Kawasaki disease differs from anaphylactoid purpura and measles with regard to tumour necrosis factor-α and interleukin 6 in serum

It has been reported that tumour necrosis factor- (TNF-) is capable of inducing vascular injury, and interleukin 6 (IL-6) of inducing production of acute phase proteins and the maturation of megakaryocytes. Kawasaki disease (KD) is a systemic vasculitis with severe inflammation. We investigated whether TNF- and IL-6 activities in serum from patients with KD differs from those in anaphylactoid purpura (AP) and measles. Serum TNF- levels were measured by a sandwich enzyme immunoassay and IL-6 activities in serum were assessed by a colourimetric assay. Both KD and AP patients but not patients with measles had increased serum TNF- levels during the acute stage. With respect to IL-6, patients with KD and measles, but not AP, had increased IL-6 activities in serum during the acute stage. IL-6 activities in serum of KD patients correlated with serum C-reactive protein levels and correlated to some extent with maximum platelet counts during the course of illness. These results suggest that KD differs from AP and measles regarding both cytokines. The combination of TNF-, which may be responsible for severe vascular injury, and IL-6, which may be responsible for severe inflammation, may play an important role in acute KD.     

Phaeochromocytoma without symptoms: desensitization of the α- and β-adrenoceptors

A 16-year-old boy is described who had a relapse of a phaeochromocytoma 6 years after an initially successful tumour resection. The relapse was suspected after routine testing of urinary catecholamine excretion and was confirmed by scintigraphy with ¹²³I-meta-iodobenzylguanidine, computed tomography and magnetic resonance imaging. The plasma norepinephrine level was 3082 pg/ml (normal <500 pg/ml); the plasma epinephrine level was in the normal range. Surprisingly, our patient had no symptoms, including hypertension. The density of the - and -adrenoceptors on circulating blood cells was decreased. Postoperatively the plasma catecholamine levels were in the normal range. Three months after surgery the adrenoceptor density was almost normal. We conclude that the absence of clinical symptoms was probably due to desensitization of the adrenoceptors. After a successful operation to treat phaeochromocytoma, long-term monitoring of catecholamines is necessary to rule out an asymptomatic relapse.     

Über den Einfluß einer Glucocorticosteroidapplikation auf die Aktivität der α-Amylase im Serum

Zusammenfassung Im Rahmen von Studien über den Einfluß einer Glucocorticosteroidapplikation auf die -Amylase-Aktivität in verschiedenen Körperflüssigkeiten wurden als Feldversuch vor der Durchführung von Bestimmungen an klinischem Krankengut fünf Kaninchen auf die Einwirkung von i.v. applizierten Prednisolongaben auf die -Amylase-Aktivität im Serum unter verschiedenen Versuchsbedingungen untersucht. Dabei ergab sich, daß bereits eine einmalige Gabe des Hormons zu einer deutlichen Steigerung der Enzymaktivität führt. Eine über längere Zeit durchgeführte Prednisolonbelastung provoziert -Amylase-Werte, wie sie sonst nur bei akuten Pankreatitiden gefunden werden. Die erhöhten Werte klingen in einem solchen Fall nur sehr langsam ab. Die pathogenetischen Mechanismen beim Zustandekommen dieser Veränderungen am Pankreas werden an Hand der neueren Literatur diskutiert.

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The influence of glucocorticosteroid application on the activity of -amylase in the serumI. Experiments in rabbits

Summary Glucocorticosteroids are used in the treatment of a large number of serious diseases in childhood. The doses used are often high and the period of application extends over a long time. As the influence of glucocorticosteroids on the function of the pancreas in childhood is not yet known sufficiently, we decided to follow up the changes in -amylase activity in the serum as an indicator of the excretory function of the pancreas. Five rabbits were used in the experiment and the conditions were varied. These experiments were designed as a preliminary study prior to clinical investigations.Even a single application of glucocorticosteroids leads to a significant increase of enzymic activity. Continuous applications of higher doses of prednisolone causes values of -amylase activity similar to those observed in acute pancreatitis. In such a case the enzyme activity decreases very slowly after the application of the hormone has ceased.The pathogenic mechanism of the changes in the pancreas are discussed in view of recent publications.

     

Über den Einfluß bedingter Reflexe auf die α-Amylase-Aktivität im Speichel gesunder Kinder

Zusammenfassung Ausgehend von der Tatsache, daß die Speichelsekretion unter bedingten Reflexen zunimmt, wurde die -Amylase-Aktivität im Gesamtmundspeichel bei 24 gesunden Kindern im Alter zwischen 1 und 6 Jahren in 5-Tage-Perioden unter neu induzierten bedingten Reflexen nach der Mikromethode von Street u. Close bestimmt. Jede Speichelentnahme erfolgte unter vergleichbaren Bedingungen zur gleichen Tageszeit. Mit diesen Untersuchungen sollte ein Beitrag zur Klärung der Frage geleistet werden, ob während der Phase der gesteigerten Speichelsekretion eine Veränderung der Enzymaktivität im Sinne einer gesetzmäßigen Konzentrationsänderung zu finden ist oder nicht.Die erzielten Resultate weisen auf altersabhängige Differenzen der -Amylase-Aktivität im Speichel mit der Tendenz eines Anstieges bei älteren Kindern hin. Die statistische Auswertung der Versuchsergebnisse mit Hilfe der doppelten Varianzanalyse ließ keine signifikanten Differenzen bei den Probanden mit neu induzierten bedingten Reflexen erkennen. Bei den Untersuchungen bei 19 Kindern mit älteren, bereits voll ausgeprägten bedingten Reflexen war in der Gruppe der Kinder zwischen 2 und 4 Jahren durchschnittlich ein Abfall der Enzymaktivität nach der Stimulation von 18% und in der Gruppe der Kinder zwischen 4 und 6 Jahren von durchschnittlich 28% des Ausgangswertes zu verzeichnen. Die allgemein zu beobachtende große Schwankungsbreite der -Amylase-Aktivität im Speichel wird auf die verschiedenen Steuerungsmechanismen der Speichelsekretion bezogen, wobei corticale, subcorticale und Umgebungsfaktoren eine Rolle spielen.

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The influence of conditioned reflexes on the activity of -amylase in the saliva of healthy children

Summary As is well known the secretion of salive increases under conditioned reflexes; -amylase activity was therefore determined in 24 healthy children aged between one and six years (Method by Street and Close), under newly induced conditioned reflexes. Each determination took place under comparable conditions at the same time of the day on five successive mornings. Any disturbing environmental factors were carefully avoided. The intention of this study was to establish, whether or not there is a change of enzyme activity in the increased quantity of salive following newly induced and old conditioned reflexes.The results obtained indicate differences which are agedependent; the enzymic activity was found to be higher in older children. The statistical evaluation of the data using the double variance analysis shows no significant differences under newly induced conditioned reflexes. Determinations done in 19 healthy children using old, already fully developed, conditional reflexes showed a 18% decrease of enzyme activity in the group aged between 2 and 4, and 28% in the group aged between 4 and 6 years old, taking the initial value as 100%. The considerable scattering of the values obtained is due to the various control mechanisms for the secretion of saliva, which is the result of cortical, subcortical and environmental factors.

     

Tropical ulcers and mycotic infections in the tropics

The prevalence of diseases in any environment often reflects the interplay of climate, customs, and racial and nutritional factors of that community. Even so, it is now necessary to establish a clearer understanding and a unified management approach for such exotic lesions as tropical ulcers and deep mycotic infections in this era of increasing international travel. Over a 10-year period (June 1979 to May 1989), we reviewed the cases of phagedenic tropical ulcers and deep mycotic infections of surgical relevance in children admitted to the University of Nigeria Teaching Hospital, Enugu, Nigeria, a tertiary health care center. Phagedenic tropical ulcers accounted for 126 cases (0.35%), mycetoma (Madura foot) for 18 (0.05%), phycomycosis for 108 (0.3%), and African histoplasmosis for 27 (0.08%) of the 36,000 admissions in the Pediatric Department during the 10-year period. Early recognition of these clinical entities arises from an intense suspicion in children in the tropics with any ulcers, swellings, nodules, papules, abscesses, or sinuses. Also, there is need for a novel or at least improved modality of drug treatment, especially for the deep mycotic infections. Finally, intense collaboration between the front-line physician (in the rural areas) and a bacteriologist cum mycologist, pathologist, radiologist, and surgeon is clearly necessary for early specific diagnosis and appropriate treatment in these challenging lesions. Offprint requests to: F. A. Nwako     

Cytokines predict coronary aneurysm formation in Kawasaki disease patients

In this study, we measured serially the serum levels of cytokines including interleukin-6 (IL-6), IL-8, soluble IL-2 receptor (sIL-2R) and tumour necrosis factor (TNF-) in 60 patients with Kawasaki disease (KD) and evaluated the clinical significance of these cytokines in predicting coronary aneurysm formation. Of the 60 patients, 12 were complicated with coronary aneurysm. Blood samples were collected within the 1st week after onset of fever, then once a week for the 1st month, and once a month for another 5 months. The serum levels of IL-6, IL-8, sIL-2R and TNF were measured using an ELISA or RIA method. Our results show that the changes in serum IL-6 and IL-8 were faster than those of sIL-2R and TNF. Within the 1st week, the serum levels of IL-6 and IL-8 were significantly higher in the patients with than in those without coronary aneurysm (P<0.001). In addition, the serum levels of IL-6 and IL-8 obtained in the 1st week were highly correlated (P<0.001) with those of C-reactive protein and erythrocyte sedimentation rate, and the serum levels of sIL-2R and TNF were also increased at the 1st week reaching the highest level in the 2nd week. In the 2nd week, the serum levels of sIL-2R and TNF were significantly higher in the patients with than in those without coronary aneurysm (P<0.05). These findings suggest that the serum levels of IL-6 and IL-8 obtained in the 1st week may serve as useful parameters in predicting coronary aneurysm formation in KD patients.     

Klinische,biochemische, morphologische und elektrophysiologische Untersuchungen bei einer kindlichen Glykogenese Typ II mit zweifachem Enzymmangel

Zusammenfassung In der vorliegenden Arbeit wird über klinische, biochemische, morphologische und elektrophysiologische Untersuchungen bei einem im Alter von 13 Monaten an einer Glykogenose Typ II verstorbenen Kinde berichtet. Neben dem für das Krankheitsbild typischen -1,4-Glucosidase-Mangel ließ sich außerdem in Skeletmuskulatur, Herz und Leber erstmals ein zusätzlicher Hyaluronidasedefekt nachweisen. Im Gegensatz dazu zeigten die -Glucuronidase und -Actylglucosaminidase erheblich erhöhte Aktivitäten. Von Glykogen deutlich färberisch und elektronenmikroskopisch unterscheidbar war in der Muskulatur die Ablagerung einer weiteren Substanz festzustellen, wobei es sich um ein saures Mucopolysaccharid handeln dürfte. Ein pathogenetischer Zusammenhang mit dem Hyaluronidasedefekt liegt nahe.

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Clinical, biochemical, morphological and electrophysiological studies of glycogenosis typ II in childhood with douple deficiency of enzymes

The clinical, biochemical, morphological and electrophysiological findings in a 13-month-old child, who died of glycogenosis type II, is presented. In addition to the deficiency of -1,4-glucosidase, which is typical for the disease, a deficiency in hyaluronidase could be detected for the first time in the skeletal and heart muscles and in the liver. On the other hand, the -glucoronidase and -acetylglucosaminidase activity was highly increased. Deposits of a substance, most probably an acid mucopolysaccharide, which could be differentiated from glycogen by chromography and electronmicroscopy, could be detected in the muscle. A pathogenetical connection with the hyaluronidase defect is imminent.

Herrn Prof. Dr. F. H. Dost zum 65. Geburtstag gewidmet.     

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.     

The unreliability of mean corpuscular volume and mean cellular hemoglobin determinations in the diagnosis of α-thalassemia in newborn infants

Mean corpuscular volume (MCV) and mean cellular hemoglobin (MCH) were determined by means of a Hemalog 8/90 electronic counter in 51 full-term newborn infants with -thalassemia-2 and 15 with -thalassemia-1, as well as in 150 normal newborn infants. The mean MCV and MCH values were 92 fl±06 and 33.26 pg±2.22 in the normal newborn infants, 82 fl±07 and 29.40 pg±2.60 in the -thalassemia-2 subjects, and 73 fl±06 and 26.07 pg±2.05 in the -thalassemia-1 subjects. Four of the 150 normal newborn infants had MCV's<79 fl and MCH's<29.00 pg whereas 5 of the -thalassemic subjects had MCV's>90 fl and MCH's>32.00 pg. We conclude that MCV and MCH determinations are unreliable in the diagnosis of -thalassemia in the neonatal period.     

Pentoxifylline and intravenous gamma globulin combination therapy for acute Kawasaki disease

We compared the efficacy of oral administration of pentoxifylline (PTX) and intravenous infusions of gamma globulin (IVGG) combination therapy with that of IVGG in reducing the frequency of coronary-artery lesions (CAL) in children with Kawasaki disease (KD), in a randomized trial. All patients with KD received acetylsalicylic acid (30 mg/kg per day), until the 30th day, after the onset of fever, followed by daily acetylsalicylic acid at a dose of 3-5 mg/kg per day there-after, and intravenous IVGG, 200 mg/kg per day, for 5 consecutive days. In addition, patients randomly assigned to PTX and IVGG combination therapy groups received oral PTX at a dosage of 10 mg/kg per day (low-dose) or 20 mg/kg per day (high-dose), in three divided doses until the 30th day. Patients with KD were all free from CAL prior to treatment. We assessed the presence of CAL by two-dimensional echocardiography which was also done prior to treatment and then twice a week after hospital admission. We detected CAL in 3 of 18 patients (16.7%) in the IVGG therapy group, as compared with 2 of 18 patients (11.1%) in the low-dose PTX and IVGG combination therapy group. There were no significant differences between the two groups. In the next study, we detected CAL in 3 of 21 patients (14.3%) in the IVGG therapy group, as compared with none of 22 patients (0%) in the high-dose PTX and IVGG combination therapy group (² = 6.4, P < 0.02). No adverse side-effects were observed in 79 patients with KD.     

α-aminoadipic aciduria and persistence of fetal haemoglobin in an oligophrenic child

The case of a mentally retarded girl with a number of dysmorphic features, Raynaud's phenomenon, hypotonia and petit mal seizures is presented. Laboratory investigations showed -aminoadipic aciduria and a high level of fetal haemoglobin. Oral l-lysine loading resulted in a marked increase of -aminoadipic acid in blood and urine. After 3 months of pyridoxine medication the increase of -aminoadipic acid in blood and urine during the oral l-lysine loading test was less than in the test before treatment. A normal degradation rate of dl--amino [1-¹⁴C] adipic acid in fibroblasts of the patient, as measured by ¹⁴CO₂ production, did not indicate a primary enzyme defect in the -aminoadipic acid transamination or decarboxylation steps.The persistent HbF could be the result of stress on the erythropoiesis by a secondary induced defect in an early stage of haemoglobin synthesis in which -amino--ketoadipic acid, a structural analogue of -aminoadipic acid, is an intermediate.     

Peritoneal dialysis in maple-syrup-urine disease: Studies on branched-chain amino and keto acids

We report biochemical data on a child with MSUD who underwent peritoneal dialysis for severe metabolic imbalance. In confirmation of earlier data, the BCKA/BCAA ratios in blood had been found to be fairly stable in this patient during long-term dietary therapy.The child became comatose at comparatively low levels of leucine and KICA (ca. 2 mM each). At this time the blood/cerebrospinal fluid ratio for BCAA's and BCKA's was markedly diminished. During peritoneal dialysis, peritoneal clearance was highest for KIVA, but less for MEVA and BCAA's (40–50% or urea clearance), and least for the allegedly most toxic metabolite, KICA. The differences for BCKA's may be due to their differential protein binding. Given these individual differences, 1.8 to 8.7 initial plasma volumes were cleared in 14h with 24.21 of dialysis fluid. In the same time, urinary excretion of BCAA's and BCKA's was much less efficient.The data are discussed with regard to the pathobiochemical significance of high tissue levels of branched chain acids. A quantitative comparison between peritoneal dialysis and exchange transfusion is not yet possible.Abbreviations BCAA's branched-chain -amino acids - BCKA's branched-chain -keto acids - KICA -keto-isocaproic acid - KIVA -keto-isovalerio acid - MEVA -keto--methyl-n-valeric acid - MSUD maple syrup urine disease With support of the Landesamt für Forschung des Ministeriums für Wissenschaft und Forschung des Landes Nordrhein-Westfalen. U.L. was supported by Deutsche Forschungsgemeinschaft, Bad Godesberg, G.F.R. (DFG La 201, Schwerpunkt Biochemische Humangenetik and SFB 33 Nervensystem und biologische Information)     

Fucosidosis: Severe phenotype with survival to adult age

A male patient with fucosidosis exhibited the following characteristics: 1. Early onset and rapid progression of neurological symptoms. 2. Skin changes compatible with angiokeratoma corporis diffusum. 3. Complete or nearly complete deficiency of -fucosidase. 4. Survival to adult age (20 years). The deficiency of -fucosidase was demonstrated in liver, tears, urine sediment, and cultured fibroblasts. We conclude that severe deficiency or complete absence of -fucosidase does not by itself preclude survival to adult age.     

Effects of immunoglobulin and gamma-interferon on the production of tumour necrosis factor-α and interleukin-1β by peripheral blood monocytes in the acute phase of Kawasaki disease

Abstract In order to study the in vitro effects of intact immunoglobulin (Ig) and gamma-interferon (INF-) in patients with Kawasaki disease, the production of tumour necrosis factor- (TNF-) and interleukin-1 (IL-1) was measured in peripheral blood monocytes (PBM) both before and after intravenous immunoglobulin (IVIG) therapy. Spontaneous production of TNF- and IL-1 both before and after IVIG therapy was significantly higher than in healthy controls. Intact Ig enhanced in vitro the production of TNF- and IL-1 both before and after IVIG therapy approximately 3–4 times as compared to the spontaneous production. INF- did not affect the production of the two cytokines. Ig enhanced IL-1 mRNA expression in PBM of KD by 3–8 times more than that of spontaneous production.Conclusion These results suggest that: (1) the mechanism of action of IVIG therapy in KD is not to cut down the production of inflammatory cytokines such as TNF- and IL-1 andf that (2) the changes of these cytokine levels may be related to the clinical effectiveness of high dose IVIG.     

Increased expression of EGFR and TGF-α in segmental renal dysplasia in duplex kidney

Renal dysplasia (RD) is a disorganised development of renal parenchyma that results in a deficit of functional renal tissue. It is known that the epidermal growth factor (EGF) and the transforming growth factor- (TGF-) enhance renal cell proliferation, migration and differentiation during kidney development through binding to the same EGF receptor (EGFR). The aim of the study was to analyse the expression of TGF- and EGFR in the dysplastic kidney. The specimens of dysplstic upper poles duplex kidneys were surgically resected from 19 patients. Indirect immunohistochemistry was performed using the ABC method employing antibodies against EGFR and TGF-, and gene expression using primers specific to the human genes. There was absent or weak EGFR and TGF- immunoreactivity in normal kidney tissue. In dysplastic kidneys, there was strong TGF- and EGFR immunoreactivity in the epithelium of primitive tubules and strong EGFR immunoreactivity in the connective tissue around the primitive tubules. Our findings of markedly increased local expression of EGFR and TGF- in primitive tubules suggest that EGFR and TGF- may play an important role in altering renal morphogenesis resulting in renal dysplasia.     

Ergebnisse klinischer,biochemischer, lichtmikroskopischer und ultrastruktureller Untersuchungen einer kindlichen Muskelglykogenose bei zwei Brüdern und deren schwester

Zusammenfassung Es wird über eine abortive muskuläre Form der Typ II-Glykogenose (Pompe) bei drei Geschwistern (zwei Buben und deren Schwester) berichtet.Die klinischen und routinehistologischen Befunde entsprechen dem Bild einer primär degenerativen Myopathie. Erst spezielle lichtmikroskopische (PAS-Reaktion), elektronenmikroskopische und biochemische Untersuchungen führten zur Sicherung der Diagnose.Im elektronenmikroskopischen Bild weisen die betroffenen Muskelzellen aller drei Geschwister große, autophage Vacuolen auf, die neben aggregierten Glykogengranula häufig myelinartige Abbauprodukte cytoplasmatischer Membranen enthalten. Daneben werden unspezifische Veränderungen an den übrigen Zellorganellen und den Myofibrillen beobachtet. Die biochemische Untersuchung einer Muskelbiopsie ergibt den Nachweis eines Mangels an -1,4-Glucosidase.

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Results of clinical, biochemical, Light-microscopical and ultrastructural studies of childhood glycogenosis in two brothers and their sister

Summary This report describes a mild muscular form of type II glycogenosis (Pompe) in 3 children (two boys and their sister).The clinical picture and results of routine histological tests were in keeping with the picture of a primary degenerative myopathy. It was not possible to confirm the diagnosis until special preparations were examined by light microscopy (PAS stain) and by electromicroscopical and biochemical techniques.Electron-microscopical examination of muscle cells from the affected areashowed large, autophagic vacuoles in all three sibs, which contained aggregated glycogen granules and myelin-like degradation products of cytoplasmic membranes. Nonspecific changes of the other cell organelles and the myofibrils were also observed. Biochemical examination of a muscle biopsy revealed an -1,4-glucosidase deficiency.

Wir danken Frau Prof. Dr. E. Freund-Mölbert (Lehrstuhl für Mikrobiologie, Biologie II der Universität Freiburg i. Br.) für ihre freundliche Unterstützung.     

Absence of α-fucosidase activity in two sisters showing a different phenotype

Two Austrian sisters with a different phenotype of fucosidosis are presented. The diagnosis was established by demonstrating complete -l-fucosidase deficiency in the patients' liver as well as an increased excretion of oligosaccharides in the urine and an absence of -l-fucosidase activity in skin fibroblasts of one patient. No correlation between enzyme activity and the different expression of the disease was found.     

Tumour necrosis factor receptor-associated periodic syndrome with a novel mutation in the TNFRSF1A gene in a Japanese family

Tumour necrosis factor receptor-associated periodic syndrome (TRAPS) is a dominantly inherited disorder characterised by recurrent episodes of sustained fever. Here we report a case of TRAPS with a novel TNFRSF1A mutation, C70S, in a Japanese family. The mutation disrupts one of the three disulphide bonds in cysteine-rich domain 2 of TNF receptor 1, similar to the reported mutations of the same cysteine residue (C70R, C70Y). This is the first confirmed case of TRAPS in an eastern Asian population. The patients asymptomatic sister as well as their mother with mild symptoms had the same mutation. Conclusion: Although tumour necrosis factor receptor-associated periodic syndrome has been reported mainly in families of northern European ancestry, our case suggests the need to include it in the differential diagnosis of patients with recurrent fever even in ethnic groups in which no case has been documented.Abbreviations CRD cysteine-rich domain - sTNFR soluble TNF receptor - TNF- tumour necrosis factor - TNFR TNF receptor - TRAPS TNF receptor-associated periodic syndrome