Antiepileptic treatment in paediatric oncology--an interdisciplinary challenge.

Epileptic seizures are a common and clinically relevant problem in paediatric oncology. Attributable to the heterogeneity of this group of patients and a number of possible comorbidities antiepileptic treatment in paediatric oncology poses a number of diagnostic and therapeutic challenges. This requires a close interdisciplinary approach to the seizing child or adolescent.

Evidence for impaired gluconeogenesis in very long-chain acyl-CoA dehydrogenase-deficient mice.

Hypoketotic hypoglycaemia is a characteristic feature of fatty acid oxidation (FAO) defects. Although the underlying pathogenic mechanism is unknown, one hypothesis points to an impairment in gluconeogenesis. To study hepatic glucose production in FAO defects, we used the knockout mouse model of very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency presenting with stress-induced hypoglycaemia.

Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency.

beta-Ureidopropionase is the third enzyme of the pyrimidine degradation pathway and it catalyses the irreversible hydrolysis of N-carbamyl-ss-aminoisobutyric acid or N-carbamyl-ss-alanine to beta-aminoisobutyric acid or ss-alanine, ammonia, and CO2. Analysis of the beta-ureidopropionase gene (UPB1) of the first 4 patients presenting with a complete enzyme deficiency, revealed the presence of 2 splice-site mutations (IVS1-2A>G and IVS8-1G>A) and one missense mutation (A85E). RT-PCR analysis of the complete beta-ureidopropionase cDNA suggested that both splice-site mutations lead to a variety of alternative splice variants, with deletions of a single or several exons.

Fatal glioblastoma multiforme in a patient with neurofibromatosis type I: the dilemma of systematic medical follow-up.

Introduction: Neurofibromatosis type I (NF1) is one of the most prevalent genetic diseases of the nervous system. Although the majority of NF1 patients are only mildly affected, the risk of developing malignancies is significantly increased in this population.

Case Report: Here, we present a 9-year-old girl with clinical stigmata of NF1 and a rapidly evolving glioblastoma multiforme.

Acute neuronopathic Gaucher disease complicated by fatal gastrointestinal bleeding.

Gaucher disease, a rare lysosomal storage disease caused by deficiency of glucocerebrosidase, may present with gastrointestinal bleeding. We report about an 11-month-old boy suffering from acute neuronopathic Gaucher disease who died after massive gastrointestinal bleeding. A gastric ulcer was found as the sole bleeding source.

Neonatal screening for very long-chain acyl-coA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels.

Objective: Neonatal screening programs for very long-chain acyl-coenzyme A dehydrogenase deficiency have been implemented recently in various countries. Mildly elevated C14:1-carnitine on day 3 of life strongly suggests very long-chain acyl-coenzyme A dehydrogenase deficiency.

Design: We characterized 11 neonates with elevated C14:1-carnitine by enzyme and molecular analyses.

Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency.

Prospective observation in a neonate with guanidinoacetate methyltransferase deficiency (GAMT-D), a severe neurometabolic disorder, revealed increased guanidinoacetate levels at birth. After 14-month treatment with creatine, high-dose ornithine, benzoate, and an arginine-restricted diet, the patient's development is normal and she does not present any symptoms of GAMT-D. The authors' observation indicates that early detection of GAMT-D is possible in the neonatal period, and presymptomatic treatment may prevent its manifestation.

Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry.

Neonatal screening programs for very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD) have recently been implemented. We report 2 newborns with elevated C14:1-carnitine levels on day 3 of life and normal levels on days 5 to 7. Enzyme and molecular analyses confirmed VLCADD in the first patient and heterozygosity in the second patient.

Endothelial, inducible and neuronal nitric oxide synthase in congenital pulmonary lymphangiectasis.

Abnormal growth and development of lymphatic pulmonary structures leads to severe hypoxia in congenital pulmonary lymphangiectasis (CPL). This case study aims to determine the cellular source and topographical distribution of the nitric oxide synthases in CPL. It studies the post mortem tissue of a term newborn with the clinical course and histological findings of CPL and three controls without pulmonary pathology.

Carnitine supplementation induces long-chain acylcarnitine production--studies in the VLCAD-deficient mouse.

Carnitine supplementation does not affect carnitine concentrations in tissues of wild-type and very long-chain acyl-CoA dehydrogenase-deficient mice, but results in an increase in long-chain acylcarnitine production.

Disseminated pilocytic astrocytoma involving brain stem and diencephalon: a history of atypical eating disorder and diagnostic delay.

The association of weight loss and pediatric brain tumors that affect the diencephalon or brain stem with weight loss is a recognized, but not fully understood phenomenon. Tumors located in the hypothalamic region may induce the diencephalic syndrome (DS), which is characterized by profound emaciation with almost complete loss of subcutaneous fatty tissue. Tumors that compress or infiltrate the brain stem rarely cause both psychological disturbance and emaciation.

Persistent right umbilical vein associated with complex congenital cardiac malformation.

Umbilical venous catheterization is frequently used for vascular access during neonatal resuscitation. The differentiation between umbilical artery and vein, specifically during the resuscitation procedure, is clinically neither always easy nor unambiguous. A preterm infant of 35 weeks of gestational age was born after an uneventful course of his mother's pregnancy.

Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency.

The clinical, neurophysiological and neuroradiological work-up as well as the results of a specific treatment trial are presented of the first patient diagnosed with beta-ureidopropionase deficiency (E.C. 3.

Diagnostic delay of NF1 in hemifacial hypertrophy due to plexiform neurofibromas.

Benign tumors of the peripheral nerve sheath, termed neurofibromas, are the hallmark feature of neurofibromatosis type 1 (NF1). These tumors can result in hypertrophy of a limb or another anatomic region. Hemifacial hypertrophy due to an underlying neurofibroma is a typical manifestation of NF1 in young children although the overall frequency of facial involvement is low.

Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia.

Dyggve-Melchior-Clausen syndrome (DMC) (MIM 223800) and Smith-McCort dysplasia (SMC) (MIM 607326) are rare allelic autosomal recessive spondylo-epi-metaphyseal dysplasias (SEMDs) characterized by similar skeletal manifestations. Both phenotypes have been mapped to chromosome 18q21.1 and mutations in the DYM (dymeclin) gene were identified in 13 families with DMC and in two families with SMC.

Secondary pseudotumor cerebri in pediatric oncology and hematology: an unpredictable condition of varying etiology.

Secondary pseudotumor cerebri (PTC) in pediatric oncology and hematology is an unpredictable and under-recognized condition. It is characterized by increased cerebrospinal fluid (CSF) pressure of more than 25 cm H(2)O in the absence of underlying structural causes. Numerous conditions and medications have been implicated in the etiology of secondary PTC.

Glucose and leucine kinetics in idiopathic ketotic hypoglycaemia.

Aims: To investigate glucose and leucine kinetics in association with metabolic and endocrine investigations in children with ketotic hypoglycaemia (KH) in order to elucidate the underlying pathophysiology.

Methods: Prospective interventional study using stable isotope tracer in nine children (mean age 4.23 years, range 0.

Newborn screening for hepatorenal tyrosinemia: Tandem mass spectrometric quantification of succinylacetone.

Background: False-positive and false-negative results occur in current newborn-screening programs for hepatorenal tyrosinemia, which measure tyrosine concentrations in blood spots, sometimes in combination with other metabolites, including succinylacetone. We present our experience with a newly described method for succinylacetone quantification in routine newborn screening.

Methods: Succinylacetone was extracted from blood spots that had already been extracted with absolute methanol for acylcarnitine and amino acid analysis.

Influence of D-arabitol and ribitol on neuronal network activity.

To date, two new defects in the pentose phosphate pathway have been identified in patients with abnormalities in their polyol profiles. Some of them presented with neurological symptoms of so far unknown aetiology. The pathophysiological role of polyols, e.

[Fabry disease--a provocation for pediatrics].

Fabry disease is an inherited metabolic disease caused by the deficiency of the lysosomal enzyme alpha-Galactosidase A. In consequence, globotriaosylceramide (Gb3) accumulates in nearly all tissues and body fluids. Typically, the disease manifestation is in childhood with acroparaesthesia of burning character in hands and feet.

Beta-ureidopropionase deficiency presenting with febrile status epilepticus.

Unlabelled: Beta-ureidopropionase is the third enzyme in the catabolic pathway of uracil and thymine. To date, only three other patients are reported with this inborn error of metabolism. We report the clinical presentation of a male patient who presented at the age of 4 months after an ALTE-like event (ALTE = acute life-threatening event) with febrile status epilepticus.

Pseudotumor cerebri as an important differential diagnosis of papilledema in children.

Introduction: Primary pseudotumor cerebri (PTC) in childhood is a rare but important differential diagnosis in children presenting with papilledema. It is defined as elevated cerebrospinal fluid (CSF) pressure of more than 20 cm H(2)O, normal CSF composition, and exclusion of underlying structural or systemic causes. Visual loss is a serious complication, which requires careful monitoring and management.