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Kurzlich wurde ein Zusammenhang zwischen todlich verlaufenden Pneumonien bei immunkompetenten jugendlichen Patienten (Medianalter 14,8 Jahre) und dem Nachweis von Staphylococcus-aureus-Stammen, die das Gen fur Panton-Valentine-Leukozidin (PVL) tragen, beschrieben. Wir berichten uber ein 12-jahriges Madchen, das 3 Tage nach Beginn eines fieberhaften Infektes mit Tachydyspnoe stationar aufgenommen wurde. Hamatologisch fiel eine Leukopenie auf. Rontgenologisch zeigte sich eine Pleuropneumonie. Das Krankheitsbild verschlechterte sich foudroyant, sodass nach 10 Tagen der Hirntod diagnostiziert wurde. Pra- und postmortal konnte aus relevanten Materialien ein PVL-positiver Staphylococcus-aureus-Stamm isoliert werden.

Congenital disorder of glycosylation type Id is an inherited glycosylation disorder based on a defect of the first mannosyltransferase involved in N-glycan biosynthesis inside the endoplasmic reticulum. Only one patient with this disease has been described until now. In this article, a second patient and an affected fetus are described. The patient showed abnormal glycosylation of several plasma proteins as demonstrated by isoelectric focusing and Western blot. Lipid-linked oligosaccharides in the endoplasmic reticulum, reflecting early N-glycan assembly, revealed an accumulation of immature Man(5)GlcNAc(2)-glycans in fibroblasts of the patient. Chorion cells of the affected fetus showed the same characteristic lipid-linked oligosaccharides pattern. However, the fetus had a normal glycosylation of several plasma proteins. Some fetal glycoproteins are known to be derived from the mother, but even glycoproteins that do not cross the placenta were normally glycosylated in the affected fetus. Maternal or placental factors that partially compensate for the glycosylation defect in the fetal stage must be proposed and may be relevant for the therapy of these disorders in the future.

We report of a prematurely born infant, who was admitted to hospital at the age of 6 months due to seizures. The seizures continued despite of an improved electroencephalogram due to varying medications. The boy had episodes of hypokaliaemia, diarrhea, and tachycardia which were treated in critical care unit. Not before 3 months of continued treatment and diagnostic work up in three different hospitals had passed the underlying poisoning with theophylline by the mother was proved. The toxicity of theophylline is well known. Adverse reactions occur frequently during theophylline therapy. There are numerous reports of suicidal intoxications with theophylline. Non-accidental poisoning with theophylline has not yet been reported in the context of Munchausen syndrome by proxy.

Pineal secretion of melatonin, a potential sleep-inducing agent, is stimulated by nighttime darkness. To gain better insight into the control of melatonin physiology in man, we studied melatonin concentrations in ventricular cerebrospinal fluid (v-CSF). In four patients aged 1–4 yr with therapeutic v-CSF drainage, including one with lumbar CSF (l-CSF) drainage, CSF samples were collected sequentially over 24-hr periods. One further patient with severe sleep disturbance had one collection period under chloral hydrate and another after oral melatonin administration. Reduction of light intensity or night periods, respectively, led to increased melatonin levels. At the moment of falling asleep, additional melatonin peaks were observed in v-CSF but not in l-CSF. Oral melatonin, but not chloral hydrate, caused a rapid increase in CSF melatonin between 10 and 80 min after intake, raising levels far beyond physiological concentrations. The commencement of sleep is associated with an additional melatonin peak v-CSF which is independent of baseline secretion during the day–night cycle. The possibility is discussed that the induction of sleep might depend on a critical level or increased melatonin concentrations, which can be achieved with orally administered melatonin.

Summary Background and purpose: Ischemic symptoms in children with Moyamoya syndrome are typically provoked by hyperventilation (HV) and are accompanied by the “re-build-up” phenomenon in EEG. The value of scintigraphic detection of HV-provoked perfusion deficits remains to be elucidated. Patients and methods: In seven children with Moyamoya syndrome regional cerebral blood flow was assessed by 99mTc-ethyl-cysteine-dimer (ECD) single photon emission computed tomography (SPECT) after HV and under baseline conditions to identify ischemia prone regions. Results: Regional marked hypoperfusion after HV was found in all patients. Predominant perfusion deficits were detected in the frontal lobes. Conclusion: ECD SPECT is a potential tool for the preoperative evaluation of cerebral hemodynamics and for monitoring angiosurgical therapies in Moyamoya disease.

Background: Every year approximately 280,000 people suffer from traumatic brain injury in Germany. About 72,000 children and adolescents are affected, which is a very high proportion. The majority of patients with traumatic brain injury (TBI) suffer from permanent disabilities as a consequence of this injury. The likelihood of experiencing a TBI is twice as high for boys than for girls. This gender difference becomes more marked with increasing age, presumably due to the gender-specific propensity to risk taking in sports and leisure activities. Whether or not gender-specific factors also influence the outcome regarding mortality and neurocognitive functions or rehabilitation potential has not yet been adequately investigated in Germany. In emergency care, there are also deficits in the coordination of processes across all sectors and in secondary treatment (e.g., by general practitioners and in [early] rehabilitation) which leads to duplication of examinations and treatment. There is currently a lack of systematic documentation of individual cases of medium and severe TBI on different levels of care. Method: Detailed data on accident mechanism, lesions, laboratory parameters and functional deficits and their course are recorded anonymously and analyzed in the TBI Register of the University Clinic Munster in cooperation with partners from the Emergency Medical Care (UKM), Early Rehabilitation (Clemenshospital Munster), continued rehabilitation (Helios Clinic Hattingen), and coordinators of aftercare (Centre for out-patient rehabilitation Munster, Pediatric Neurological Aid, Sociopediatric Centres, NRW). The project is funded by the Ministry for Health, Equality, Care, and Aging of the State of North-Rhine Westphalia as part of the “IuK & Gender Med. NRW” competition. Objectives: Analysis of register data are of prime importance for the evaluation of prevention measures and provides an information basis for optimizing patient care. The structure and process quality along the existing treatment chain including interfaces between emergency treatment and rehabilitation facilities and secondary care are mapped to optimize the quality of TBI patient care.

We report on a preterm infant born at 30+5/7 gestational weeks who developed severe cystic cerebral lesions after exposure to a car accident one day before delivery. The literature on car accidents during pregnancy is reviewed with specific focus on neonatal neurological outcome.

The course of Cockayne syndrome is reported in two sisters over a period of 14 years. Both girls developed characteristic clinical signs early. Reaching the second decade progeria and psychomotor deficits progressed quickly with a marked mental decline brought about by the cerebral destruction which is demonstrated by successive CT und MRI scan. The effects of defective DNA repair mechanisms on progeria and mental deterioration are discussed and differential diagnoses are shown.

Summary: Purpose: Positron emission tomography (PET) using 18F-radiolabeled deoxyglucose (18F-FDG) is a sensitive procedure for detection of epileptogenic foci. Although alterations in glucose consumption are not restricted to the area of seizure generation itself, the magnitude and extent of cerebral metabolic disturbances induced by epileptic discharges can be detected. Despite two decades of epilepsy research using 18F-FDG-PET, little is known about the metabolic changes during therapy of focal epilepsy. We report on a child with frontal epilepsy with severe glucose hypometabolism that was nearly completely normalized during drug therapy. Methods: Interictal 18F-FDG-PET was performed at the onset of epilepsy and after optimized drug therapy in a 5-year-old boy with behavioral abnormalities and repetitive seizures of frontal origin with bifrontal interictal EEG slowing for 8 weeks. Both scans were anatomically matched; initial and intratherapeutic glucose metabolism were compared. Results: In accordance with the epileptogenic focus as identified by EEG and ictal/interictal perfusion single-photon emission tomography (SPECT), bifrontal hypometabolism was depicted by 18F-FDG-PET. Magnetic resonance imaging (MRI) was unremarkable. After dual-drug therapy (valproate, carbamazepine), the boy became seizure free, and his initial behavioral deficits disappeared. A control PET study after 3 months of therapy showed restored glucose consumption; the frontal EEG slowing was normalized. Conclusions: This case demonstrates that reduction of glucose metabolism in epileptogenic foci may be a result of reversible neuronal dysfunction that correlates with the electroclinical follow-up.

In a stirred laboratory reactor a biofilm was grown on a gas-permeable silicone membrane, Xylene was added to the bulk fluid as the only carbon source and oxygen was supplied through the membrane. For 66 days the reactor was operated under varying experimental conditions. The concentrations of five components in the reactor effluent and of two in the gas outlet were measured almost daily, the biofilm thickness was determined several times. The measured time series were used to calibrate a mathematical model which calculates pH, aerobic degradation of xylene, and microbial growth, decay and conversion to inert particulate material. The calibrated model was then used to analyze the spatial distribution and dynamics of the xylene-degrading heterotrophic population in the biofilm. The analysis revealed that as long as oxygen was supplied as air heterotrophic cells only grew within a thin zone of about two hundred micrometers near the membrane. Upon the change from air to pure oxygen this zone shifted instantaneously by half of the biofilm thickness of about two millimeters towards the biofilm surface. The immediate ability of the biofilm to convert xylene in a zone which so far had been strictly anaerobic, indicates the presence of a heterotrophic population in this zone. The conclusion is that this population had been transported from the aerobic to the anaerobic zone and that transport and growth of microbial cells are processes which are equally important in biofilms.

In a cylindrical laboratory reactor, in which a biofilm was grown on a gas-permeable silicone membrane tubing through which oxygen was supplied, the removal of xylene from the bulk fluid was investigated. Two days after starting the experiment 98 % of xylene was degraded and was no longer transferred into the gas phase. Using polarographic microelectrodes the thickness of the biofilm and the boundary layer as well as the oxygen profiles in both layers have been measured. The fluid velocity had three major influences: it affected the boundary layer thickness, the biofilm density and the sloughing of the biofilm. At higher fluid velocities (Reynolds numbers) high oxygen consumption within the biofilm could be quantified. At these higher fluid velocities the biofilm was grown with a higher density and adhered better to the membrane. By application of higher oxygen partial pressures in the gas phase and higher fluid velocities in the liquid phase, the mean degradation efficiency was increased from 38 to 96 %. A computer simulation showed good correspondence with the experimental investigations and allowed a total process analysis. Membrane-biofilm reactors are preferred for technical applications as, e.g., treatment of landfill leachates with high contents of volatile organics.

To investigate the effect of sulthiame (STM) in West syndrome (WS) an open, uncontrolled add-on study was undertaken during initial pyridoxine (PDX) therapy in 12 infants, two with idiopathic and ten with symptomatic WS. All patients were initially treated with PDX (150-300 mg x kg (-1)body weight day(-1) ). In seven patients (58%) seizures and hypsarrhythmia stopped during the week after introduction of STM (10 mg x kg (-1)body weight day (-1)). In one the positive effect was temporary. Five of the responders (42%) remained seizure-free and without hypsarrhythmia under STM monotherapy, while one developed complex partial seizures after 25 months. STM was most effective in idiopathic WS (2 /2). During treatment with STM medication no patient suffered side effects attributable to the substance. Further controlled studies are necessary to evaluate the benefit of this potentially effective treatment.

In a laboratory reactor, in which a biofilm was grown on a gas-permeable silicone membrane through which oxygen was supplied, the removal of xylene from the bulk fluid was investigated. A mathematical model, by which aerobic xylene degradation, biofilm growth, transport processes in the gas, biofilm and bulk fluid compartment and pH in the biofilm are described, was developed and used to analyse the effect of various experimental parameters on xylene removal. It was found that a few days after the experiment was started, the biofilm thickness reached an optimal value for which all xylene added to the reactor was microbially degraded and xylene was no longer transferred to the gas phase. Beyond the optimal thickness, biofilm growth led to a decrease of the percentage of the xylene which was degraded. This tendency could partly be compensated by an increase of the hydraulic shear stress, oxygen supply or buffer concentration in the reactor influent. A computer simulation showed that the model was able to adequately reproduce the experimental data and allowed to identify relevant experimental parameters, which can be used to control the microbial removal of volatile organics in membrane-biofilm systems.

Neutron scattering experiments on the molecular glass former ortho-terphenyl reveal a dynamic anomaly at a temperature Tc ≈ 290 K well above the calorimetric glass temperature Tg = 243 K. Close above Tc the density autocorrelation function ΦQ(t) shows a two step decay over 4–5 decades in time. The slower component obeys the time-temperature superposition principle. Its line shape can be well parametrized by a Kohlrausch law and is strongly temperature dependent as its relaxation time scales with the shear viscosity. Thus this component is identified with the structural relaxation (α-process). The faster component (β-process) is much less temperature dependent. Its line shape factorizes in a purely Q-dependent and a purely time-dependent part and its time scale follows a power law with a critical exponent a. The crossover region between the α-and s-process follows a power law (von Schweidler law) with a critical exponent b. Approaching Tc from below the plateau value separating the α and the β process (= Debye-Waller factor) shows a critical decrease and bends over to a weak temperature dependence at Tc. These findings support several predictions made by the mode coupling theory of the glass transition which relates these dynamic anomalies to remnants of an ideal glass transition.

Das Kraniopharyngeom ist der dritthaufigste Hirntumor des Kindesalters. Komplikationen nach Kraniopharyngeomoperationen sind haufig. Zu den haufigsten Komplikationen zahlen endokrine Storungen, Visusverschlechterung, Gesichtsfeldausfalle, emotionale und kognitive Veranderungen sowie Gewichtszunahme. Wir berichten uber 1 Patientin, bei der unmittelbar nach der Operation eines Kraniopharyngeoms eine vollstandige Amaurose auftrat. Bei intakten anatomischen Strukturen zeigte das MRT eine Odem im Bereich des Chiasmas. 17 Tage nach der Operation traten erstmals wieder Seheindrucke auf, die sich im Verlauf von 6 Wochen bis zu einem Visus von 0,5 steigerten. Parallel dazu wies die Bildgebung einen Ruckgang des Chiasmaodems auf. Diskussion: Auch Wochen nach einer eingetretenen operationsbedingten Amaurose kann bei intakten anatomischen Strukturen mit der Wiedererlangung eines ausreichenden Visus gerechnet werden.

The authors conducted a double-blind, placebo-controlled, crossover study to investigate the efficacy of oral zolmitriptan in the treatment of migraine in children and adolescents. Patients (n = 32) received placebo, zolmitriptan 2.5 mg, and ibuprofen 200 to 400 mg to treat three consecutive migraine attacks. Pain relief rates after 2 hours were 28% for placebo, 62% for zolmitriptan, and 69% for ibuprofen (p < 0.05). Both drugs are well tolerated with only mild side effects.

We report of a prematurely born infant, who was admitted to hospital at the age of 6 months due to seizures. The seizures continued despite of an improved electroencephalogram due to varying medications. The boy had episodes of hypokaliaemia, diarrhea, and tachycardia which were treated in critical care unit. Not before 3 months of continued treatment and diagnostic work up in three different hospitals had passed the underlying poisoning with theophylline by the mother was proved. The toxicity of theophylline is well known. Adverse reactions occur frequently during theophylline therapy. There are numerous reports of suicidal intoxications with theophylline. Non-accidental poisoning with theophylline has not yet been reported in the context of Munchausen syndrome by proxy.

Ischemic symptoms in children with Moyamoya syndrome are typically provoked by hyperventilation (HV) and are accompanied by the "re-build-up" phenomenon in EEG. The value of scintigraphic detection of HV-provoked perfusion deficits remains to be elucidated.In seven children with Moyamoya syndrome regional cerebral blood flow was assessed by 99mTc-ethyl-cysteine-dimer (ECD) single photon emission computed tomography (SPECT) after HV and under baseline conditions to identify ischemia prone regions.Regional marked hypoperfusion after HV was found in all patients. Predominant perfusion deficits were detected in the frontal lobes.ECD SPECT is a potential tool for the preoperative evaluation of cerebral hemodynamics and for monitoring angiosurgical therapies in Moyamoya disease.

Charcot-Marie-Tooth disease type 1 (CMT1) is a demyelinating peripheral neuropathy most commonly caused by a DNA duplication on chromosome 17p11.2 including the peripheral myelin protein 22 (PMP22). Point mutations in the myelin protein zero gene (MPZ) and gap junction protein, beta-1 gene (GJB1) are also found in association with CMT1 or the subclass of CMT type X (CMTX), respectively. Recently point mutations in these genes have been found in patients showing the axonal variant of CMT, CMT type 2 (CMT2). We here describe the clinical and electro-physiological findings caused by two novel and two recently described MPZ mutations and six GJB1 mutations. Different MPZ and GJB1 mutations were associated with different grades of severity in CMT1 and CMTX. The novel MPZ Glu141st op mutation was associated with the axonal CMT2. We conclude that the clinical and electrophysiological heterogeneity among CMT patients carrying point mutations in MPZ and GJB1 is similar. Thus for clinical purposes CMT1 and CMT2 patients should be screened for mutations in these two genes after duplication on chromosome 17p11.2 has been excluded as the disease causing mutation.

The course of Cockayne syndrome is reported in two sisters over a period of 14 years. Both girls developed characteristic clinical signs early. Reaching the second decade progeria and psychomotor deficits progressed quickly with a marked mental decline brought about by the cerebral destruction which is demonstrated by successive CT und MRI scan. The effects of defective DNA repair mechanisms on progeria and mental deterioration are discussed and differential diagnoses are shown.

The Debye-Waller factor of the van der Waals glass tri-α-naphthylbenzene, measured by high resolution incoherent quasielastic neutron scattering, shows a cusp at T c =407±5 K signaling the existence of a critical instability as has been predicted by mode coupling theory to occur in supercooled glass forming liquids. At temperatures above T c structural relaxation is observed to obey the time-temperature superposition principle.

To determine to what extent the Arg506 to Gln point mutation in the factor V gene and further genetic factors of thrombophilia affect the risk of porencephaly in the neonate and infant, its occurrence was investigated in a population of children with porencephaly. In this study, the Arg506 to Gln mutation, factor V, protein C, protein S, antithrombin, antiphospholipid antibodies and lipoprotein (a) (Lp(a)) were retrospectively measured in neonates and children with porencephaly (n = 24). In 16 of these 24 patients, genetic risk factors of thrombophilia were diagnosed: heterozygous factor V Leiden (n = 3), protein C deficiency type I (n = 6), increased Lp(a) (n = 3) and protein S type I deficiency (n = 1). Three of the 16 infants showed two genetic risk factors of thrombophilia: Factor V Leiden mutation combined with increased familial Lp(a) was found in two children, and factor V Leiden mutation with protein S deficiency type I in one infant. Data of this study indicate that deficiencies in the protein C anticoagulant pathway play an important role in the etiology of connatal porencephaly.

AIMS—To determine to what extent the Arg506 to Gln point mutation in the factor V gene and further genetic factors of thrombophilia affect the risk of porencephaly in neonates and infants. METHODS—The Arg506 to Gln mutation, factor V, protein C, protein S, antithrombin, antiphospholipid antibodies and lipoprotein (a) (Lp(a)) were retrospectively measured in neonates and children with porencephaly (n=24). RESULTS—Genetic risk factors for thrombophilia were diagnosed in 16 of these 24 patients: heterozygous factor V Leiden (n=3); protein C deficiency type I (n=6); increased Lp (a) (n=3); and protein S type I deficiency (n=1). Three of the 16 infants had two genetic risk factors of thrombophilia: factor V Leiden mutation combined with increased familial Lp (a) was found in two, and factor V Leiden mutation with protein S deficiency type I in one. CONCLUSIONS—The findings indicate that deficiencies in the protein C anticoagulant pathway have an important role in the aetiology of congenital porencephaly.

Elevated lipoprotein (a) concentrations are independent risk factors of coronary heart disease or stroke in young adults. To claify its role in childhood thrombosis, Lp (a) was measured in a population with arterial or venous thrombosis. Increased Lp (a) was diagnosed in eight of 36 children with arterial and five out of 36 children with venous thrombosis. Data of this study indicate that increased Lp (a) concentrations play an important role in childhood thrombosis.

We report on incoherent-neutron-scattering measurements in the supercooled regime of the van der Waals liquid ortho-terphenyl. A secondary localized relaxational process on the picosecond time scale is found. In accordance with mode-coupling theories of the glass transition, the relaxational dynamics around a critical temperature ${\mathit{T}}_{\mathit{c}}$ decomposes into two time regimes.

We report on neutron-scattering measurements of the Debye—Waller factor of three isotopically substituted glassy orthoterphenyls: fully protonated, fully deuterated and selectively deuterated at the lateral phenyl rings. From the comparison of the observed anomaly in the glass transition region (β-process) found in the three systems, we can exclude any intramolecular phenyl-ring dynamics as the dominant motional mechanism for the β-process. The data thus support mode-coupling theory proposing a center-of-mass motion as precursor process of the glass transition.

To the Editor: The medical mystery in the October 5 issue1 involved a 19-year-old man, shown here in Figure 1, who had numerous dome-shaped elevations on the surface of the iris, or Lisch nodules. ...