Increased intracranial pressure caused by non-space-occupying arachnoid cysts: report of two patients.

In this article we report on two patients with arachnoid cysts previously treated by shunt implantation presenting with clinical signs of an increased intracranial pressure i. e., papilledema, headache and nausea. Repeated MRI scans showed no alteration of the cerebrospinal fluid circulation and no space-occupying effect of the cysts. Although neuroimaging showed no signs of increased intracranial pressure, neurosurgical exploration was performed and revealed a distinctly increased pressure in both arachnoid cysts. After replacement of the shunt a prompt reduction of papilledema and relief of symptoms was observed.

A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.

PURPOSE: To identify the biochemical and molecular genetic defect in a 16-year-old patient presenting with apical hypertrophic cardiomyopathy and neuropathy suspected for a mitochondrial disorder. METHODS: Measurement of the mitochondrial energy-generating system (MEGS) capacity in muscle and enzyme analysis in muscle and fibroblasts were performed. Relevant parts of the mitochondrial DNA were analysed by sequencing. Transmitochondrial cybrids were obtained by fusion of 143B206 TK(-) rho zero cells with patient-derived enucleated fibroblasts. Immunoblotting techniques were applied to study the complex V assembly. RESULTS: A homoplasmic nonsense mutation m.8529G-->A (p.Trp55X) was found in the mitochondrial ATP8 gene in the patient's fibroblasts and muscle tissue. Reduced complex V activity was measured in the patient's fibroblasts and muscle tissue, and was confirmed in cybrid clones containing patient-derived mitochondrial DNA. Immunoblotting after blue native polyacrylamide gel electrophoresis showed a lack of holocomplex V and increased amounts of mitochondrial ATP synthase subcomplexes. An in-gel activity assay of ATP hydrolysis showed activity of free F(1)-ATPase in the patient's muscle tissue and in the cybrid clones. CONCLUSION: We describe the first pathogenic mutation in the mitochondrial ATP8 gene, resulting in an improper assembly and reduced activity of the complex V holoenzyme.

Emergency cervical cerclage: A review of 15 cases.

BACKGROUND: This report describes our experience with 15 consecutive emergency cervical cerclages performed at Al Yamamah Hospital. PATIENTS AND METHODS: Between February 1994 and February 1997, 15 women with singleton pregnancies between 18 and 26 weeksâ gestation, with a cervical dilatation between 3 and 10 cm and with membrane prolapse, underwent emergency cerclage after excluding labor, placental abruption and intrauterine infection. The membranes were replaced using the technique of overfilling the urinary bladder and then performing McDonaldâs cerclage. All the patients received prophylactic antibiotics and tocolytics. RESULTS: Of the 15 pregnancies, two aborted and 13 ended in live births. Nine of the live births survived, giving a survival rate of 60%. The mean extension of pregnancy in the survivors was 11.5 weeks (range 7.6-15.2 weeks), and the gestational age at delivery ranged from 30-38+ weeks. In six of the patients, suture failed to prolong the pregnancy long enough to produce a âtake-home baby.â All the failures were due to subclinical intrauterine infection. There was no maternal morbidity. CONCLUSION: Emergency cerclage should be considered as a management option in women with painless cervical dilatation and membrane prolapse in the midtrimester.

Use of complementary and alternative medicine in healthy children and children with chronic medical conditions in Germany.

OBJECTIVES: Use of complementary and alternative medicine (CAM) in children is common and probably increasing. However little is known about differences between healthy and chronically ill children with a focus on prevalence, reasons for use/non-use, costs, adverse effects and socio-demographic factors. DESIGN: A questionnaire-based survey with 500 participants visiting the outpatient clinic of the University Children's Hospital Homburg, Germany was conducted over a 4-week period in 2004. Recruitment was stopped when 500 questionnaires were handed out in total. RESULTS: Of the 405 (81%) respondents (242 with chronic conditions, 163 healthy children incidentally visiting the hospital for minor ailments) 229 (57%) reported lifetime CAM use (59% with chronic conditions versus 53% healthy children). Among CAM users the most prevalent therapies were homeopathy (25%), herbal remedies (8%), anthroposophic medicine (7%), vitamin preparations (6%) and acupuncture (5%). The main reasons for use were to strengthen the immune system, physical stabilisation and to increase healing chances/maintain health. Socio-demographic factors associated with CAM use were tertiary education (mother: p=0.017; father: p>0.001), higher family income (p=0.001) and being Protestant (p=0.01). Expectations towards CAM were high and most parents would recommend certain CAM (94%). 79% of the users informed a physician about CAM use. Side effects were rarely reported (4%), minor and self-limiting. CONCLUSIONS: Clinical care and the physician-patient relation would benefit from an enhanced understanding of CAM and a greater candidness towards the parental needs. The safety and efficacy especially of CAM with high prevalence rates should be determined in rigorous basic and clinical researches.

Pallister-Killian Syndrome (PKS) as a Cause of Mental Retardation.

Pallister-Killian syndrome (PKS; OMIM: # 601803) is a rare sporadic syndrome of multiple congenital anomalies attributable to the presence of a de novo mosaic supernumerary isochromosome 12p [i(12p)]. The syndrome presents with a recognizable pattern of findings including: pigmentary skin changes, characteristic facial features (sparse anterior scalp hair, flattened midface, macrostomia, and coarsening of the facial features), and developmental delay. The developmental phenotype of PKS is quite variable, but most are considered to fall into the profound range of developmental retardation. We report on two individuals with classical features of PKS. Notably, in one child the neuropsychological development was significantly more favourable than commonly reported in the literature. This illustrates the loose correlation between geno- and phenotype in PKS.

A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.

To identify the biochemical and molecular genetic defect in a 16-year-old patient presenting with apical hypertrophic cardiomyopathy and neuropathy suspected for a mitochondrial disorder.Measurement of the mitochondrial energy-generating system (MEGS) capacity in muscle and enzyme analysis in muscle and fibroblasts were performed. Relevant parts of the mitochondrial DNA were analysed by sequencing.A homoplasmic nonsense mutation m.8529G→A (p.Trp55X) was found in the mitochondrial ATP8 gene in the patient's fibroblasts and muscle tissue. Reduced complex V activity was measured in the patient's fibroblasts and muscle tissue, and was confirmed in cybrid clones containing patient-derived mitochondrial DNAWe describe the first pathogenic mutation in the mitochondrial ATP8 gene, resulting in an improper assembly and reduced activity of the complex V holoenzyme.

Effect of propofol on seizure-like phenomena and electroencephalographic activity in children with epilepsy vs children with learning difficulties.

There is an ongoing debate as to whether propofol exhibits pro- or anticonvulsant effects, and whether it should be used in patients with epilepsy. We prospectively assessed the occurrence of seizure-like phenomena and the effects of intravenous propofol on the electroencephalogram (EEG) in 25 children with epilepsy (mean (SD) age: 101 (49) months) and 25 children with learning difficulties (mean (SD) age: 52 (40) months) undergoing elective sedation for MRI studies of the brain. No child demonstrated seizure-like phenomena of epileptic origin during and after propofol sedation. Immediately after stopping propofol, characteristic EEG changes in the epilepsy group consisted of increased beta wave activity (23/25 children), and suppression of pre-existing theta rhythms (11/16 children). In addition, 16 of 18 children with epilepsy and documented EEG seizure activity demonstrated suppression of spike-wave patterns after propofol sedation. In all 25 children with learning difficulties an increase in beta wave activity was seen. Suppression of theta rhythms occurred in 11 of 12 children at the end of the MRI study. In no child of either group was a primary occurrence or an increase in spike-wave patterns seen following propofol administration. The occurrence of beta wave activity (children with learning difficulties and epilepsy group) and suppression of spike-wave patterns (epilepsy group) were transient, and disappeared after 4 h. This study demonstrates characteristic, time-dependent EEG patterns induced by propofol in children with epilepsy and learning difficulties. Our data support the concept of propofol being a sedative-hypnotic agent with anticonvulsant properties as shown by depression of spike-wave patterns in children with epilepsy and by the absence of seizure-like phenomena of epileptic origin.

[Congenital muscular dystrophies: muscle-eye-brain disease]. / Kongenitale Muskeldystrophie: Muscle-Eye-Brain disease.

Three rare autosomal recessive disorders share the combination of congenital muscular dystrophy and brain malformations including a neuronal migration defect: muscle-eye-brain disease (MEB), Walker-Warburg syndrome (WWS), and Fukuyama congenital muscular dystrophy (FCMD). In addition, ocular abnormalities are a constant feature in MEB and WWS. We report on two brothers with MEB. The clinical and radiological characteristics are demonstrated.

[Vascular malformations in newborn infants, infants and children]. / Vaskuläre Erkrankungen bei Neugeborenen, Säuglingen und Kindern.

Vascular malformations are the cause of nearly all non-traumatic intracranial hemorrhage in children beyond the neonatal stage. Therefore, any child presenting with spontaneous intracranial hemorrhage should be evaluated for child abuse and for vascular malformations. Intracerebral malformations of the cerebral vasculature include vein of Galen malformations, arteriovenous malformation (AVM), cavernomas, dural arteriovenous fistulas, venous anomalies (DVA), and capillary teleangiectasies. Although a few familial vascular malformation have been reported, the majority are sporadic. Clinical symptoms, diagnostic and therapeutic options are discussed.