ARDS as presenting symptom in an infant with CD40L deficiency (Hyper-IgM syndrome Type 1).

We report on a 4 month old male infant with respiratory syncytial virus (RSV) infection leading to acute respiratory distress syndrome (ARDS). A diagnostic algorithm including extended infectiological and immunological work-up revealed absence of CD40-ligand. ARDS was treated successfully with a complex respiratory therapy plus intravenous immunoglobulin substitution. Molecular analysis detected mutations in the CD40L gene (Hyper-IgM syndrome Type 1). The case underlines the importance of an extended diagnostic work-up in an uncommonly severe course of respiratory infection in early infancy.

[Granulocyte function in premature infants before the 34th week of pregnancy and in mature newborn infants]. / Granulozytenfunktion bei Frühgeborenen ab der 34. Schwangerschaftswoche und bei reifen Neugeborenen.

BACKGROUND: Preterm and term neonates have an increased risk to develop severe bacterial infections. Impairment of neutrophil function may be responsible for this increased risk. Other diseases related to prematurity like retinopathia of prematurity (ROP) or broncho-pulmonary dysplasia (BPD) on the other hand may be due to poorly controlled O2-radical production. PATIENTS AND METHODS: Blood samples of 112 premature (34 weeks of gestation and older) and term neonates were analysed. Blood samples of 23 healthy adults (18 to 50 years old) served as controls. O2-radical production and phagocytosis of neutrophils were determined by flow cytometry, using a commercial test system. RESULTS: Under the experimental conditions applied, the capacity to produce O2-radicals following vigorous stimulation (E. coli) is comparable between neutrophils of preterm/term neonates and healthy adults. However, unstimulated or weakly stimulated (fMLP) neutrophils of preterm and term neonates show a statistically higher O2-radical production as neutrophils of the control group. The production of oxygen radicals increases during the first 10 days of the life. The capability of neutrophils to phagocytose E. coli is significantly lower in newborns (preterm and term) compared to the adult controls. CONCLUSIONS: The values reported here for phagocytosis and O2-radical production utilizing a commercially available test system may serve as "preliminary normal values" for neonates. No differences were found between the groups of neonates with and without infection. Impaired neutrophil-phagocytosis possibly contributes to the increased risk of preterm and term neonates to acquire bacterial infections. The increased spontaneous O2-radical production, on the other hand, may play a role for the development of so called "free radical diseases" such as ROP or BPD. However, our results cannot add further proof to this hypothesis.

Prevalence of popliteal cysts in children. A sonographic study and review of the literature.

Popliteal cysts in children differ from those in adults. They are considered to be less frequent and usually appear in the absence of intra-articular lesions. However, their prevalence in asymptomatic children is unknown. We present a prospective epidemiological study of 168 asymptomatic children under 15 years of age hospitalised for various pathologies. Children with knee problems and rheumatic diseases were excluded from the study. The children were examined ultrasonographically with a 7.5 MHz linear scanner. A popliteal cyst could be identified in 4 patients. The prevalence of asymptomatic popliteal cysts was thus 2.4%. For 2 of these patients, we obtained magnetic resonance image of the knee which showed no concommitant intra-articular pathology.

Early-lethal pulmonary form of Niemann-Pick type C disease belonging to a second, rare genetic complementation group.

UNLABELLED: An infant with an unusual clinical presentation and course of Niemann-Pick disease type C (NPC) is described. The baby presented with severe pulmonary involvement and hepatosplenomegaly at the age of 3 months and died of respiratory failure at the age of 7 months. Cell hybridization studies revealed that the infant belonged to the rare genetic complementation group 2. To our knowledge, this is the third reported case with early-lethal pulmonary involvement in NPC. All three reported patients belong to the minor complementation group 2. An elder brother of the present case had also died at 6 weeks of age from NPC with severe pulmonary involvement. The two complementation groups cannot be distinguished from each other by clinical, cellular and biochemical criteria except for severe pulmonary involvement which may be characteristic of the second group. CONCLUSION: NPC may present in early infancy with severe pulmonary involvement mimicking interstitial pneumonia. Such manifestation may be characteristic of the rare genetic complementation group 2.

[Measuring vibrations of transport stress in premature and newborn infants during incubator transport]. / Schwingungsmessungen zur Transportbelastung Früh- und Neugeborener bei Inkubatortransporten.

BACKGROUND: Despite increasing numbers of centers for perinatology, transportation of newborns and premature infants can not totally be avoided for several obvious reasons. The following investigations were carried out as part of our quality control measures of the established neonatal transportation system, and were aimed on the optimization of a new neonatal transportation equipment resulting in reduction of transportation stress caused by acceleration forces. METHOD: The new system investigated consisted of a Volkswagen type T4 equipped with a Dräger incubator type 5400, which was mounted on a pneumatic patient lift. We measured acceleration forces in three axes (expressed as K-Wert) as well as over a spectrum of frequencies (1-80 Hz). Measurements were taken at different points of the transportation unit during simulated transports driving a predetermined route. After obtaining informed consent of the parents, one actual transport of a newborn was used for an additional point measurement at the newborn's head. RESULTS: The mean K-Wert was decreased by about 50% in the vertical axis between the chassis of the car and the incubator by activating the pneumatic patient lift. Without activating the lift the K-Wert increased by about 20% between the car's chassis and the incubator. The frequency analysis showed resonance effects between the different components of the system. However, by activating the patient lift, effective accelerations in the incubator were decreased to less than 0.1 m/s2 across the whole frequency spectrum evaluated. The single measurement at a newborn's head revealed similar acceleration forces at the head of the baby and under its head. CONCLUSIONS: Utilization of a pneumatic patient lift can reduce acceleration forces. However, our results show that each system (car, incubator, and its base) has to be investigated and optimized for this purpose as a unit. Optimization of the complete system is necessary not only before its primary use but also in regular intervals over the years. Sometimes, further improvements can be reached with minor modifications such as the exchange of worn out rubber buffers.

Infantile intranuclear rod myopathy.

This report concerns three unrelated floppy infants, two girls and one boy, each biopsied at the age of 1 month. They were hypotonic since birth and required artificial ventilation. The two girls died at the ages of 4 and 3 1/2 months, respectively, the boy is still alive at the age of 2 years, but requires assisted ventilation. Each of the three infants showed, by muscle biopsy, abundant intranuclear rods, the boy and one girl also had sarcoplasmic rods, which were not present in the other girl's muscle. Absence of sarcoplasmic rods, but the presence of intranuclear rods could also be documented in her autopsied muscle. Using an antibody against alpha-actinin, immunoelectron microscopy showed reaction of the sarcoplasmic and intranuclear rods demonstrating their Z-band origin. To our knowledge, this is the first report on rod myopathy with intranuclear rods only and of an immunoelectron microscopic demonstration of alpha-actinin in intranuclear rods. The presence of intranuclear rods in infants with nemaline myopathy also appears to indicate a grave prognosis of their rod myopathy.

Technetium-99m mercaptoacetyltriglycine clearance: reference values for infants and children.

Six hundred and thirty-nine clearance studies performed in children aged 7 days to 19 years utilizing technetium-99m mercaptoacetyltriglycine (MAG 3) were retrospectively analysed. Standardized conditions for the investigation included: parenteral hydration (60 ml/hxm2 body surface) in addition to normal oral fluid intake, weight-related dose of 99mTc-MAG 3 (1 MBq/kg body weight, minimum 15 MBq) and calculation of clearance according to Bubeck et al. Of the 513 children, 169 included in this analysis could be classified as "normal" with regard to their renal function. Normal kidney function was judged by the following criteria: normal GFR for age, normal tubular function (absence of proteinuria and glucosuria), normal renal parenchyma (on ultrasonography, MAG 3 scan and intravenous pyelography), absence of significant obstruction and gross reflux (>grade I), no single kidney and no difference in split renal function >20%. Results showed increasing MAG 3 clearance values for infants during the first months of life, reaching the normal range for older children and adults between 7 and 12 months.

Distribution of lymphocyte surface antigens in healthy neonates.

Using flow cytometric analysis we investigated the distribution of major lymphocyte surface antigens in newborn infants. A total of 221 newborns entered the study, of whom 53 fulfilled our criteria of healthy mature neonates. Percentages of immunofluorescent-positive cells were as follows (median and range from 25th to 75th percentiles given): for CD1 3.8%; 2.3%-5.8%. CD2 60.9%; 52.4%-66.8%. CD3 57.5%; 50.5%-63.3%. TcRass 57.7%; 48.1%-60.0%. CD4 36.3%; 28.0%-42.6%. CD8 23.0%; 20.0%-27.4%. CD11a 56.3%; 46.3%-68.5%. CD19 12.1%; 8.6%-14.8%. CD20 10.9%; 8.4%-12.9%. CD25 2.6%; 2.1%-4.5%. CDw52 61.0%; 51.2%-76.1%. CD71 5.2%; 3.1%-9.3%. While the ranges for the percentage of immunofluorescent-positive cells were rather small, there was a wide variation in the absolute numbers of marker immunofluorescent-positive cells.

Renal abscess in childhood: diagnostic and therapeutic progress.

During the past decade new techniques such as computed tomography (CT) and ultrasonography have been reported to have changed the diagnostic investigation and treatment of renal abscess in adults. To evaluate whether similar changes have taken place in the pediatric age group, a retrospective study of all patients seen between 1979 and 1989 was performed. Seven patients, 0.8 to 14 (mean, 9) years old, with renal abscesses in eight kidneys were identified. Ultrasound and computed tomography proved to be the most valuable diagnostic tools, revealing the diagnosis by showing a hypoechoic or hypodense mass. All patients had an initial trial of intensive antibiotic treatment, which led to resolution of the abscesses in two of the eight kidneys. In all other cases the abscesses were additionally drained, which was done surgically in two and by ultrasonography- or CT-guided percutaneous drainage in four patients. Abscess cultures grew Staphylococcus aureus (three), Escherichia coli (one) and Salmonella Group B (one) and were sterile in one case. Drainage was unsuccessful in only one patient, who subsequently underwent nephrectomy for uncontrolled infection of a diffusely damaged kidney. We conclude that the diagnosis of renal abscesses is greatly facilitated by ultrasonography and CT and that most patients can be cured without operation by antibiotics and, if necessary, by additional percutaneous drainage.

Medullary sponge kidneys and unilateral Wilms tumour in a child with Beckwith-Wiedemann syndrome.

The occurrence of a Wilms tumour in a 4-year-old girl with bilateral medullary sponge kidney. Beckwith-Wiedemann syndrome and congenital hemihypertrophy demonstrates the close relationship between these disorders. Another six cases from the literature with congenital hemihypertrophy and with medullary sponge kidney are discussed, two of them also developed intraabdominal neoplasm.

Long-term follow-up of children with surgically treated vesicorenal reflux: renal growth.

Renal growth after successful surgical correction of vesicoureterorenal reflux (VUR) in childhood was observed in 137 female and 22 male patients over a mean follow-up period of 10.5 years. The renal parenchymal area was determined using a compensatory planimeter. For each measured value, the standard deviation score (SDS) was calculated by comparison with a normal population. On average, renal growth after reflux operation nearly paralleled the expected normal growth rate. Scarred kidneys had a worse growth prognosis than refluxing renal units (RU) without renal damage, growth retardation being correlated with the degree of pyelonephritic changes. The diminished growth rate of scarred kidneys was accompanied by a compensatory growth of the contralateral kidney. In the absence of renal scars, a modest tendency toward growth retardation was seen in kidneys with previously high degrees of VUR. In 39.7% of the unscarred RU with an initial SDS less than -0.5, accelerated growth (change in SDS of 0.5 or more) was observed. Accelerated growth was most accentuated on small unscarred kidneys (initial SDS less than -2.0).

Nephrogenic diabetes insipidus and intracerebral calcification.

Three children who presented with two rare conditions, nephrogenic diabetes insipidus and intracerebral calcification, were studied. The lack of evidence for the presence of a metabolic defect other than nephrogenic diabetes insipidus suggests that it can lead to the development of intracerebral calcification. Perhaps the main risk factor is inadequate fluid intake during early infancy.

Mental retardation syndrome with renal concentration deficiency and intracerebral calcification.

Two siblings are reported with a unique association of nephrogenic diabetes insipidus, intracerebral calcifications, defective psychomotor development, dwarfism and peculiar facial appearance. The disorder is to be differentiated from similar disorders, notably the Cockayne syndrome.

[Simultaneous double fluorescence flow cytometry of lysed whole blood for prenatal diagnosis of combined immunodeficiency]. / Simultane Doppelfluoreszenz-Flowzytometrie aus lysiertem Vollblut zur pränatalen Diagnostik eines kombinierten Immundefektes.

Simultaneous two-color flow cytometry of lysed whole blood allows the collection of maximal information from minimal blood volumes. This method was used for prenatal diagnosis of severe combined immunodeficiency by analysis of fetal blood. The data demonstrate that flow cytometry of lysed whole blood provides a reliable tool for prenatal diagnosis of certain immunodeficiencies. Moreover, the method described seems highly suitable for immunological monitoring of preterm infants and newborns. To enable the diagnosis of more subtle immunodeficiency states in these patients, however, valid normal values for all investigated parameters need to be defined first for the respective age/weight groups.

Engraftment of T-depleted major histocompatibility complex-mismatched bone marrow in T-deficient versus natural killer-deficient recipients.

When bone marrow transplantation recipients undergo standard pre-transplant immunosuppressive therapy, engraftment failures are significantly more frequent with the use of T-depleted allogeneic donor bone marrow cells than with T cell-containing allogeneic donor bone marrow cells. The relative importance of T versus natural killer (NK) cells in the rejection process of T-depleted donor bone marrow cells remains debatable. Here, NK- and T-deficient mouse mutants were transplanted across the same major histocompatibility complex (MHC) differences with homozygous or heterozygous T-depleted bone marrow cells. Results show that under the experimental conditions described, residual host NK cells are almost exclusively responsible for the increased rejection rate.

[A case of prepuberty periodontitis--a classification based on laboratory results]. / Ein Fall von präpubertärer Parodontitis.

The rare entity of periodontitis in a 4 1/2-year old child and subsequent changes over a 4-year follow-up period will be presented. Various examinations (among other immunological tests, biochemical differentiation of dermal fibroblasts, and ultrastructural skin biopsies) were made to identify whether this was a case of genuine prepuberty periodontitis or of periodontitis secondary to a general disease. On the basis of the results the case was diagnosed as Ehlers-Danlos Disease Type VIII, although at the same time signs of impaired granulocyte function were observed.

Long-term follow-up of children with surgically treated vesicorenal reflux: postoperative incidence of urinary tract infections, renal scars and arterial hypertension.

With a mean follow-up of 10.8 years, 160 female and 29 male patients were investigated after successful correction of vesicoureterorenal reflux. All patients suffered from urinary tract infection (UTI) preoperatively, while postoperatively 42% of the patients developed further UTIs but with a significantly diminished rate of febrile infections. In comparison to a group of patients without postoperative UTI (n = 16), the uroepithelial cells of those patients with a high infection rate after reflux correction showed a significantly lower bacterial growth suppression (n = 37). Renal scars were found in 22% of the investigated renal units with operated ureters (n = 211). Of the preoperatively unscarred kidneys, 3.4% developed new scars during the observation period, mainly within the first 2 years after operation. In 7 (11.5%) of the 61 patients with renal scars, moderate arterial hypertension was found.

Continent urinary diversion and bladder augmentation in children: the Mainz pouch procedure.

The formation of a bowel reservoir of large capacity at low pressure by using small and large bowel (ileocaecal segment) has proved reliable for achieving continent urinary diversion (n = 80), for bladder augmentation (n = 42) as well as for total bladder replacement (n = 24). Encouraged by the results we obtained in our adult patients, we have used this technique during the last 3.5 years in 29 children. Indications for urinary diversions in children have been: neurogenic bladder with diplegia (n = 8), bladder exstrophy (n = 2), traumatic loss of the bladder (n = 1), urogenital sinus (n = 1) and rhabdomyosarcoma of the prostate or bladder (n = 2). Bladder augmentation was indicated in 6 children with iatrogenic bladder loss, in 5 children with neurogenic bladder without diplegia and in 4 boys with incontinent epispadias or exstrophy. In children with bladder exstrophy or incontinent epispadias, continence was achieved using a modified Young-Dees technique with formation of a long intra-abdominal muscular tube made out of the bladder plate or the low-capacity bladder. The capacity of the urinary reservoir was guaranteed by bladder augmentation or bladder replacement with an ileocaecal pouch. During a mean follow-up period of 26 months (bladder augmentation) and 21 months (continent diversion) there was only one postoperative complication (intussusception ileus) which required operative revision. Two children had to undergo reoperation because of nipple problems. Follow-up, with monitoring of biochemical and metabolic parameters, is necessary to show whether this technique will provide a long-term successful solution for these problems.