Early-life pulmonary arterial hypertension with subsequent development of diffuse pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia type 1.

The case history is presented of a male infant who was thought to have idiopathic pulmonary arterial hypertension (PAH) at 3 months of age. Subsequently the PAH decreased unexpectedly and diffuse pulmonary arteriovenous malformations (PAVMs) were seen at 6.9 years of age for the first time. Hereditary haemorrhagic telangiectasia type 1 (HHT1) related to an endoglin mutation was diagnosed. At 10.3 years of age a lung biopsy showed diffuse PAVMs as well as pulmonary arteriopathy with medial hypertrophy. This is the first case of HHT1 presenting with PAH at such a young age. The subsequent decrease in pulmonary arterial pressure (PAP) was probably caused by the development of PAVMs. In the presence of PAVMs, measurement of the PAP may underestimate the extent of PAH-related vasculopathy.

Importance of environmental transmission in cases of EHEC O157 causing hemolytic uremic syndrome.

A local outbreak of Shiga toxin (Stx)-producing enterohemorrhagic Escherichia coli (EHEC) O157:H7 causing severe hemolytic-uremic syndrome (HUS) was found to be caused by environmental transmission. Automated ribotyping and pulsed-field gel electrophoresis revealed that four stx2-positive EHEC isolates obtained from two unrelated children, one mother and one cow were identical. Results of an epidemiological investigation strongly suggest that both children were infected via a meadow strewn with manure containing EHEC-positive feces from the infected cow a few days prior to the onset of illness. The cow belonged to a cattle farm neighboring the meadow. This report highlights the risk of acquiring EHEC O157 through indirect contact with a farm environment.

Echo-enhanced color Doppler cystosonography of vesicoureteral reflux in children. Improvement by stimulated acoustic emission.

PURPOSE: To prospectively evaluate the potential of echo-enhanced color Doppler sonography (ee-CDS) using the acoustic stimulated emission technique in the diagnosis of vesicoureteral reflux (VUR) in children. MATERIAL AND METHODS: 30 children (age: 0-9 years) with suspicion of VUR were submitted for echo-enhanced cystosonography (ee-CS) and conventional voiding cysto-urethrography (VCU). Conventional US and then color Doppler sonography (CDS) were performed after instillation of Levovist into the catheterized urinary bladder that had been prefilled with saline. Finally, output gain was increased in order to 'burst' the bubbles (= stimulated acoustic emission, burst-CS). Thereafter VCU was performed in the same session. The results of conventional ee-CS and burst-CS were compared to VCU findings. RESULTS: Twenty-four refluxing systems were found in a total of 66 collecting systems by both techniques. Ee-CS and burst-CS detected VUR in four systems not seen by VCU (grades 1-4), but missed low-degree VUR in 2 cases. In low-degree VUR, burst-CS was particularly helpful in 9 patients with equivocal results on conventional ee-CS. In 6 of them, VUR was proven by burst-CS, the other 3 showed VURs neither on VCU nor on burst-CS. CONCLUSION: Levovist ee-CS is feasible in the pediatric bladder. It enables reliable visualization of VUR in the renal collecting system. Burst-CS improves visualization of contrast reflux, particularly in non-dilative or minimally dilative VUR, which is sometimes difficult to depict with conventional ee-CS.

Autosomal dominant familial Mediterranean fever--like syndrome.

UNLABELLED: We report a syndrome characterized by recurrent episodes of fever and serositis in an Austrian family. Three family members over two successive generations were affected. The febrile episodes had their onset at the age of 11-12 years, lasted 1-5 weeks, and occurred in intervals of 6-24 months. While the disorder resembles familial Mediterranean fever (FMF) clinically, ethnic distribution and other features suggest a distinct entity. Clinically, the attacks last longer than the usual FMF attacks, and in the male patients are associated with scrotal inflammation. Genetically, the disorder appears to be inherited as an autosomal dominant syndrome, whereas FMF is autosomal recessive. Molecular analysis made the involvement of a gene in the FMF region of chromosome 16p13.3 highly unlikely. CONCLUSION: An Austrian family with recurrent fever syndrome is reported. Ethnicity, clinical features, and molecular studies point to a distinct clinical entity.

Perinatal manifestations of idiopathic long QT syndrome.

A neonate who had presented with sustained irregular heart rate during labor was found to have QT prolongation and repetitive polymorphic ventricular tachycardia (torsades de pointes) postnatally. Propranolol and propafenone successfully controlled the ventricular arrhythmias. Follow-up electrocardiograms and Holter records show persistent QT prolongation, bizarre T waves, and intermittent episodes of T wave alternans. On propranolol monotherapy the boy is thriving and completely free of ventricular arrhythmias. In the rare case of long QT syndrome in the neonate, early detection and therapy are mandatory to prevent ventricular arrhythmias and sudden death.

Adoptive immunotransfer with viable donor mononuclear cells for recurrent chronic myelogenous leukemia after allogeneic bone marrow transplantation in two children.

Two children with Ph+ chronic myelogenous leukemia (CML) relapsed in the chronic phase after allogeneic bone marrow transplantation (BMT). They were treated with transfusions of peripheral blood mononuclear cells (PBMC) obtained from the former bone marrow donors in combination with interferon alfa-2. In one child, CML was successfully controlled as shown by disappearance of Ph+ metaphases as well as negativity for BCR-ABL fusion gene transcripts demonstrated by polymerase chain reaction (PCR) analysis. The patient has remained in complete remission without evidence of disease for 12 months after donor PBMC transfusions. The other child showed disappearance of BCR-ABL gene transcripts by PCR analysis only in peripheral blood cells, but PCR positivity persisted in bone marrow samples. These results indicate that adoptive immunotherapy may be a further alternative in children with relapse of CML after allogeneic BMT as previously described for adult patients.

Amyloid goiter in a child with familial Mediterranean fever.

A 7 year-old Turkish boy presented with a euthyroid goiter, which was noted during evaluation of familial Mediterranean fever. Amyloid deposits in the thyroid were found on fine-needle aspiration biopsy. Slight involution of the goiter within seven months may be attributed either to colchicine therapy or to treatment with levothyroxine and iodide.

Familial hemophagocytic lymphohistiocytosis associated with disseminated T-cell lymphoma: a report of two siblings.

Two siblings with evidence of disseminated T-cell lymphoma at the time of diagnosis of familial hemophagocytic lymphohistiocytosis (FHL) are reported, an association which has not been described previously. The first child with typical clinical and laboratory features of FHL died shortly after admission, before diagnosis could be established. Retrospective analysis of autoptic tissue revealed marked hemophagocytosis as well as morphological and immunohistochemical features suggestive of disseminated T-cell lymphoma. In the second child, FHL was diagnosed in time. Subsequent histologic investigation of bone marrow biopsies displayed a focal infiltration by T-cell lymphoma. DNA hybridization studies provided evidence of a monoclonal T-cell receptor beta chain gene rearrangement. Following conventional chemotherapeutic induction for FHL, the patient received an allogeneic bone marrow transplant (BMT) from a related healthy donor. Currently, 17 months after BMT, the boy is in unmaintained remission from FHL and T-cell lymphoma. The current pathogenetic concepts for FHL and a possible relationship between T-cell lymphoma and FHL are discussed.

SHORT syndrome and insulin resistance.

We describe a further case of SHORT syndrome. This girl shows nearly all the typical manifestations reported in patients with SHORT syndrome. However, at 14 years she presented with non-ketotic hyperglycemia. At 16 1/2 years, the diagnosis of diabetes mellitus secondary to severe insulin resistance was made by intravenous insulin challenge. Insulin resistant diabetes mellitus seems to be a new finding in SHORT syndrome, not previously described in this condition.

Undifferentiated (embryonal) sarcoma of the liver in childhood. Successful combined-modality therapy in four patients.

BACKGROUND: Undifferentiated (embryonal) sarcoma of the liver is a rare, highly malignant, mesenchymal tumor presenting predominantly in late childhood. Four girls, ages 6-13 years, who were treated with combined-modality regimens are reported. METHODS: In the first and second patients, hemihepatectomy resulted in complete removal of the tumor, and multiple-agent chemotherapy was administered postoperatively. In the third patient, only partial resection could be accomplished initially. By synchronous radiation therapy and chemotherapy, the tumor decreased to an extent that it could be resected completely and was totally devitalized on histologic examination. Postoperative chemotherapy was discontinued after 8 weeks. In the fourth patient, the tumor was not resectable at diagnostic biopsy. Polychemotherapy led to a significant reduction of the tumor size, and resection with clear margins could be performed subsequently. Because histologic necrosis amounted to about 95%, postoperative chemotherapy was also discontinued after 6 weeks. RESULTS: All four patients remain well without evidence of tumor recurrence after 79, 41, 36, and 22 months from diagnosis. CONCLUSIONS: The authors suggest that a multimodal therapeutic regimen should be used in patients with undifferentiated hepatic sarcoma.

Ultrasound and MRI findings in a case of childhood amyloid goiter.

Goiter secondary to amyloidosis is rare in clinical practice and only a few descriptions of its radiologic features have been reported. We present the ultrasound and MRI findings of thyroid amyloidosis in a 7-year-old Turkish boy with familial Mediterranean fever.

[Complications of two series of 1000 each heart catheterization studies in childhood]. / Komplikationen bei zwei Serien von je 1000 Herzkatheteruntersuchungen im Kindesalter.

Two series of 1,000 consecutive cardiac catheterizations in neonates, infants and older children were prospectively investigated with respect to catheter-induced complications. These were categorized into arrhythmias, vascular complications, catheter and contrast perforations, central nervous (CNS) complications, clinical deterioration and catheter-related death. Comparing series 1 and 2, the number of arrhythmias decreased from 7.6% to 5.0%, acute vascular complications decreased from 2.1% to 1.4%, the number of patients showing clinical deterioration from 2.6% to 0.6% and CNS complications from 0.4% to 0.1%, whereas catheter or contrast perforations-remained virtually constant at 0.4% and 0.5% respectively. Catheter-induced mortality decreased from 2.0% to 0.7%. The group of neonates showed the greatest reduction in serious complications and catheter-induced mortality (31.3% to 12.4% and 11.0% to 4.4%, respectively). Increasing experience of the investigators, introduction of two-dimensional echocardiography as a supplementary investigation or even catheter substitute, use of percutaneous catheterization and sheath techniques, introduction of E-type prostaglandins and increased use of intubation and anaesthesia for catheterization all played an important role in the improvement shown in this investigation. Complications are still mainly seen in the group of neonates and cyanotic patients.