Skeletal cystic angiomatosis with severe hip joint deformation resembling massive osteolysis.

An aggressive destruction pattern resulting in joint deformation has not been described in skeletal cystic angiomatosis (SCA) so far. We present the case of a 6-year-old boy with such findings strongly resembling Gorham's disease (massive osteolysis). Since the prognosis of the latter entity tends to be less favorable than in SCA, particularly SCA without extraskeletal involvement, careful differentiation of both disorders appears to be important.

Gamma knife radiosurgery for hypothalamic hamartomas in patients with medically intractable epilepsy and precocious puberty. Report of two cases.

Hamartoma of the hypothalamus represents a well-known but rare cause of central precocious puberty and gelastic epilepsy. Due to the delicate site in which the tumor is located, surgery is often unsuccessful and associated with considerable risks. In the two cases presented, gamma knife radiosurgery was applied as a safe and noninvasive alternative to obtain seizure control. Two patients, a 13-year-old boy and a 6-year-old girl, presented with medically intractable gelastic epilepsy and increasing episodes of secondary generalized seizures. Abnormal behavior and precocious puberty were also evident. Magnetic resonance (MR) imaging revealed hypothalamic hamartomas measuring 13 and 11 mm, respectively. After general anesthesia had been induced in the patients, radiosurgical treatment was performed with margin doses of 12 Gy to 90% and 60% of isodose areas, covering volumes of 700 and 500 mm3, respectively. After follow-up periods of 54 months in the boy and 36 months in the girl, progressive decrease in both seizure frequency and intensity was noted (Engel outcome scores IIa and IIIa, respectively). Both patients are currently able to attend public school. Follow-up MR imaging has not revealed significant changes in the sizes of the lesions. Gamma knife radiosurgery can be an effective and safe treatment modality for achieving good seizure control in patients with hypothalamic hamartomas.

Factor V Leiden and prothrombin gene G 20210 A variant in children with ischemic stroke.

OBJECTIVE: To investigate if the factor V Leiden mutation (F-V-LM) and/or the prothrombin gene G 20210 A variant (P-G20210A-V) are risk factors for acute stroke in Austrian children. PATIENTS: 33 children with acute ischemic stroke documented by computer tomography and/or magnetic resonance imaging of the brain were enrolled in an open multicenter survey. RESULTS: 6/33 children had F-V-LM (5 heterozygous, 1 homozygous). This represents 18% (95% CI: 6.7-39.9%) of our pediatric stroke population and thus exceeds the expected prevalence in the Austrian population of 4,6% (Fischer's exact test, p = 0.01). F-V-LM was not found in 11 children with neonatal stroke but in 6/22 children with stroke after the neonatal period. 5/6 children with F-V-LM had an underlying disorder that is a risk factor for stroke in children. The P-G20210A-V was detected in 1/26 (3.85%; 95% CI: 0.1-21.4%) patients. Comparison of the prevalence of P-G20210A-V in our study with that in the general population of Austria of 1% revealed no statistical significance (Fischer's exact test, p = 0.38). CONCLUSION: Our data suggest that the F-V-LM is a risk factor for acute stroke in Austrian children beyond the neonatal period. The P-G20210A-V apparently does not represent a risk factor for stroke in Austrian children.

[Immunological aspects of a child with idiopathic pulmonary hemosiderosis and celiac disease]. / Immunologische Aspekte bei idiopathischer Lungenhämosiderose und Zöliakie.

A case report of a girl aged 3.5 years affected by the extremely rare combination of idiopathic pulmonary haemosiderosis (IPH) and coeliac disease (CD) is presented. It is the 13th such case that has been published over the last 25 years and only the 7th to be reported in a child. We believe that the concurrence of these two diseases is not coincidental, because a gluten-free diet had beneficial effects on the pulmonary symptoms not only in our case but also in other such patients. However, the pathogenetic relation between IPH and CD remains unclear. Although circulating immune complexes were detected in our patient's serum, there was no evidence of their putative damaging effect on the basement membrane of the alveolar capillaries. Furthermore, no IgA deposits could be demonstrated in alveolar basement membranes. Therefore the hypothesis that there is a reaction between IgA reticulin or endomysial antibodies and an alveolar basement membrane antigen with consecutive structural damage is unlikely.

[Predictive value of latex agglutination on Helicobacter pylori in children with recurrent abdominal pain]. / Praediktiver Wert einer Latex-Agglutination auf Helicobacter pylori bei Kindern mit rezidivierenden abdominellen Beschwerden.

In a prospective investigation, a rapid latex test for Helicobacter pylori in the serum (Pyloriset) was carried out in 39 patients with recurrent abdominal pain aged from six to 15 years. The test was positive in 19 patients. All of these children were subjected to gastroduodenoscopy. Seven cases showed a Helicobacter-associated chronic active antrum gastritis, whereas in the remaining 12 children gastritis not induced by Helicobacter or normal mucosa was found. Of the 20 Pyloriset-negative patients, only five could be biopsied. One of these showed a Helicobacter pylori-induced antrum gastritis. The latex test investigated had a positive predictive value which was too low (37%) to make it helpful in deciding for or against gastroduodenoscopy and the general anesthesia mostly associated with this.

[Multiple finger geodes in children]. / Affections multigéodiques des phalanges chez l'enfant.

Three pediatric patients with multiple geodes in the fingers are reported. This condition occurs mainly between one and three years and at seven years of age and is more common in winter. Affected fingers are swollen. Roentgenograms disclose several small lucent defects which are usually located in the middle phalanx. Several fingers are usually involved. The erythrocyte sedimentation rate is increased in virtually every case. Resolution occurs spontaneously within a few weeks or months. There is no tendency towards recurrence. Although the condition is inflammatory, exposure to cold is probably a precipitating factor.

[Familial lupus erythematosus with partial C4 deficiency]. / Familiärer Lupus erythematodes bei partiellem C4-Mangel.

A report is presented of a family with selective partial C4-deficiency in 3 members, two of whom suffer from systemic lupus erythematosus (SLE). C4-allotyping showed the presence of one "silent gene" for the C4B-locus (C4BQO) in these three cases. Presumably it is not the reduced C4-content per se that plays the essential role in the pathogenesis of familial SLE, but the combination of the C4BQO-allele with the HLA-DR2, which was also present in all three affected persons. However, it is of practical relevance that strikingly low C4-levels in comparison with the C3-levels in patients with early onset of SLE should initiate an investigation of the whole family. Furthermore, the C4-level in this form of familial SLE is not a suitable parameter for ganging disease activity on follow-up control investigations.

[Congenital, generalized cytomegalovirus infection. Follow-up and therapeutic strategy with ganciclovir]. / Kongenitale, generalisierte Zytomegalie-Virus-Infektion. Verlauf und Therapiestrategie mit Ganciclovir.

We report on a severe, generalized cytomegaly-virus-infection of a neonate with typical clinical symptoms and features. An attempt to treat with the antiviral drug Ganciclovir, an acyclic nucleoside analogue of guanine is described.

[Regional mucoviscidosis screening using immunoreactive trypsin in umbilical cord blood]. / Regionales Mukoviszidose-Screening mittels immunreaktivem Trypsin aus dem Nabelschnurblut.

In all neonates delivered at the Steyr Landeskrankenhaus from 1987 to 1989, immunreactive trypsin (IRT) in the umbilical cord blood was determined to enable early diagnosis of mucoviscidosis (cystic fibrosis, CF). Amongst 4,507 neonates 75 were found in whom the IRT was over the cut-off value of 1,204 ng/ml. Of these babies, 69 were presented at the age of six weeks for determination of elecrolytes in their sweat. Mucoviscidosis could be diagnosed in two patients. The sensitivity of our test is likely to be 100%. There is no question that the specificity (98.38%) requires improvement. The incidence of mucoviscidosis in our catchment area is 1: 2,254. The hypertrypsinemia detected was probably transient in 73 babies. Ten of these patients showed a one-minute Apgar score of less than seven.

[Xanthogranulomatous pyelonephritis in early childhood]. / Xanthogranulomatöse Pyelonephritis im Kleinkindesalter.

We report on a two-year-old infant boy in whom a tumorous enlargement of the left kidney which was not imaged in the excretion urogram was discovered by renal sonography after the second urinary tract infection. By synopsis of the clinical data and imaging techniques, but especially by the detection of foam cells in the urinary sediment, we were already able to make the diagnosis of a xanthogranulomatous pyelonephritis before the operation. Since diffuse infiltration of the entire organ was present, total nephrectomy was carried out as the therapy of choice. Besides the case report, in particular the difficulties in the diagnosis of this form of pyelonephritis (especially in infancy) are described.

[AIDS encephalopathy in childhood or the late sequela of central nervous system leukemia?]. / AIDS-Enzephalopathie im Kindesalter oder Spätfolge einer ZNS-Leukämie?

This case report is about an eleven year old boy with new developed symptoms of a cellular immundeficiency and a positive HIV-serology 33 months after a CNS-leukemia relapse. After 18 weeks a progredient neurological symptomatology is beginning with motor, cognitive and behavioral disturbances and a brain atrophy in the CT-scan. These cerebral manifestations are explainable as an encephalopathy both through HIV and after CNS-leukemia. A SSPE has been excluded. CT, EEG, Evoked Potentials do not show differential diagnostic pathognomonic findings regarding both diseases. The CSF findings hint at a persistent virus infection compatibel with the postulated slow virus pathogenesis of the AIDS-Encephalopathy. We conclude, that in this case an etiological diagnoses is only possible through histological brain examination and through demonstration of HIV or HIV-antigen in brain tissue respectively. AZT, which is reported to be effective against the cerebral AIDS-manifestations could not be applicated because of the existing pancytopenia.

[Analysis of respiratory syncytial virus diseases in hospitalized children in the district of Steyr 1984/85]. / Analyse von Respiratory-Syncytial-Virus-Erkrankungen bei hospitalisierten Kindern im Raum Steyr 1984/85.

Respiratory syncytial virus (RSV) is the most frequent cause of serious respiratory tract infections in infancy. In the course of a one-year study the nasopharyngeal secretions of all hospitalized children with diseases of the lower respiratory tract (almost exclusively infants) were examined for viral antigens. RSV antigen could be detected in 34 of the 71 secretions. In these infants a serious clinical course, pneumonia, bronchiolitis or obstructive bronchitis was dominant, but laboratory tests showed no characteristic pattern. Pulmonary X-rays of the RSV-infected infants revealed interstitial pneumonia with or without pulmonary infiltration, in addition to symptoms of hyperinflation. We were able to examine 21 of 33 RSV-infected infants 2 years later.

[The clinical picture in shunt nephritis]. / Zum Krankheitsbild der Shuntnephritis.

Report on three children with hydrocephalus in whom an immune complex nephritis ("shunt-nephritis") had occurred in consequence of an infected atrioventricular shunt. Besides the clinical course, the histological findings which are of particular significance with regard to pathogenesis are discussed as well as the serum complement system on the basis of the laboratory data. Removal of the valve system led to a complete normalization of the laboratory parameters and to a subsidence of the clinical symptoms in all patients. The necessity of a perioperative antibiotic prophylaxis in the insertion of an atrioventricular shunt is explicitly emphasized. Narrow-interval follow-up investigations should enable early detection of cases of shunt nephritis and thus prevent functional residues or even fatalities. Knowledge of this immune complex nephritis is also very important because it is one of the few forms of nephritis in which a causal therapy is available with removal of the infected shunt.

[Campylobacter jejuni infections in children]. / Infektionen durch Campylobacter jejuni im Kindesalter.

In a two-year-study, the primary feces of all children with gastroenteritis or acute abdominal symptoms were checked for the presence of Campylobacter jejuni (C. j.) even when there was no diarrhea. C. j. could be isolated 19 times from among 974 fecal samples. The most frequent admission diagnosis after gastroenteritis was the suspicion of appendicitis. In the forefront of the clinical picture was abdominal pain, which radiated into the right lower abdomen especially in children of school age, and which was frequently not accompanied by diarrhea. Apart from a leucocytosis with left shift, the laboratory results obtained revealed no parameters which could be utilized for early diagnosis of C. j. infection. 16 out of 19 isolated strains were sensitive to erythromycin. It is still uncertain whether the clinical picture under discussion can indeed be mitigated by administration of erythromycin, and for this reason controlled prospective studies would be desirable.

[Early diagnosis and early treatment of a patient with intralobular pulmonary sequestration]. / Frühdiagnose und Frühbehandlung eines Patienten mit intralobärer Lungensequestration.

A report is given on a case of intralobar pulmonary sequestration (I. L. S), which was hospitalized with the suspect diagnosis of a cavernous tuberculous infection. The 3 6/12-year-old boy was suffering of recurrent respiratory infections. These led finally to a thoracic X-ray control. X-rays showed a cystic malformation of the left lower lobe. This localisation drew our attention especially to I. L. S. after exclusion of various other diagnostic possibilities. For this reason a retrograde aortography was carried out and showed an abnormal blood supply of the cyst from the thoracic aorta. So this procedure established the diagnosis. Because of the high pulmonary and cardiac complication rate, a surgical treatment, as early as possible, is the therapy of choice. In our case the segmental resection was sufficient.

[Human fascioliasis in Austria (author's transl)]. / Menschliche Infektionen mit Fasciola hepatica in Osterreich.

Two cases of human fascioliasis in Austria (a 3-year-old boy and a 4-year-ond girl) are reported. A description is given of the clinical picture and the diagnostic procedures employed in the two cases. The importance of the serodiagnosis of fascioliasis is demonstrated, especially in the case of liver flukes; 4 different serological tests, partly of high sensitivity, were performed. After unsuccessful therapy with Resochin both children were treated with dehydroemetine; after a 4-week interval during which no eggs of Fasciola were found in several stool samples from either child, ova were yet again detected in the faces of the boy. The problems concerning the chemotherapy of fascioliasis are discussed.

[Clinical findings and diagnostic problems in a case of shunt nephritis. (author's transl)]. / Klinik und diagnostische Probleme bei einem Fall von Shunt-Nephritis.

A report is presented on a nine year old girl in whom a Spitz-Holter valve had to be implanted after operation on a meningomyelocele while a neonate. Because of a macrohematuria and a hypochromic anemia, she was admitted as an inpatient. In addition, there was a pyuria with bilateral hydronephrosis. The clinical picture was initially misinterpreted as hemorrhagic cystitis with ascending pyelonephritis in neurogenic bladder. Only the reduction of serum complement suggested the presence of a shunt nephritis. The diagnosis was verified by kidney biopsy. After removal of the infected valve system, there was a prompt normalization of all laboratory parameters. Besides description of the case history, above all the diagnostic problems of this rare syndrome, which is nevertheless of practical importance, are dealth with.

[Therapy of Bartter syndrome with indomethacin]. / Zur Therapie des Bartter-Syndroms mit Indomethazin.

In two children with typical clinical and laboratory findings of the B. S., the therapeutic effect of the prostaglandin synthetase inhibitor indomethacin could be unequivocally proved in balance studies performed under inpatient conditions. Under this medication, the serum potassium rose significantly and the potassium balance became positive. In parallel to this, the plasma renin (and in the case in which it could be regularly investigated also the plasma aldosterone) fell significantly. In one of the two patients, the hypertensin-test was performed before and under indomethacin treatment; the initial angiotensin resistance could be eliminated by Indocid. Both children have now already received Indocid for twenty-four and sixteen months. The preparation was adequately tolerated, and the clinical symptoms of B. S. have largely subsided. Noteworthy is a substantial catching up of growth in one of the two patients. Despite normal renin and aldosterone values, there was no complete normalization of the serum potassium, indicating that besides the elevation of certain renal prostaglandins in the pathogenesis of B. S. described by several authors, an additional (probably superordinate) mechanism is likely to play a role.

[Clinical findings, pathogenesis and treatment of Bartter's syndrome (author's transl)]. / Klinik, Pathogenese und Therapie des Bartter-Syndroms.

In three children Bartter's syndrome was diagnosed on the basis of the typical laboratory findings and the characteristic histological changes of the kidney. Apart from the description of three cases especially the latest pathogenic findings are represented because of their important therapeutic consequences. In one of the patients the therapeutic effect of the prostaglandin synthetase inhibitor Indomethazin was statistically proved in a balance study performed under inpatient conditions and so it was indirectly proved that the prostaglandines play an essential role in the pathogenesis of Bartter's syndrome. The patients have now received Indomethazin for a period of 11 months up to two and a half years with the result of an impressive improvement of the clinical symptoms and an unequivocal increase of the serum potassium. The fact that despite of normal renin and aldosterone levels there was no complete normalization of the serum potassium level indicates that in addition of prostaglandines probably a superior mechanism plays a part in the origin Bartter's syndrome.

[Pathogenesis of ketotic hypoglycemia (author's transl)]. / Untersuchungen zur Pathogenese der ketotischen Hypoglykämie.

4 children with ketotic hypoglycemia (KH) showed during a fasting period over 24 hours significant higher decreases of serum alanine levels than normal controls. Insulin induced hypoglycemia was followed by only minimal increase of urine epinephrine secretion, while all controls showed more than 6 times higher increases. 2-desoxy-glucose-tests were pathological in all cases with KH. One can speculate, that there is a connection between the reduced availability of alanine and the adrenal medullary hyporesponsiveness. Epinephrine stimulates glycogenolysis in muscle cells. Lack of epinephrine reduces pyruvate production and subsequently alanine synthesis. Alanine however is essential for gluconeogenesis in liver cells especially during starvation. After some days administration of diazoxide the 2-desoxy-glucose-test was normalised in all patients. This observation could probably be of some interest in therapy of KH.