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Hydrocephalus is a common neurological disorder in children characterized by abnormal dilation of cerebral ventricles as a result of the impairment of cerebrospinal fluid flow or absorption. Clinical presentation of hydrocephalus varies with chronicity and often shows cognitive dysfunction. Here we used a kaolin-induction method in rats and studied the effects of hydrocephalus on cerebral cortex and hippocampus, the two regions highly related to cognition. Hydrocephalus impaired rats' performance in Morris water maze task. Serial three-dimensional reconstruction from sections of the whole brain freshly froze in situ with skull shows that the volumes of both structures were reduced. Morphologically, pyramidal neurons of the somatosensory cortex and hippocampus appear to be distorted. Intracellular dye injection and subsequent three-dimensional reconstruction and analyses revealed that the dendritic arbors of layer III and V cortical pyramid neurons were reduced. The total dendritic length of CA1, but not CA3, pyramidal neurons was also reduced. Dendritic spine densities on both cortical and hippocampal pyramidal neurons were decreased, consistent with our concomitant findings that the expressions of both synaptophysin and postsynaptic density protein 95 were reduced. These cortical and hippocampal changes suggest reductions of excitatory connectivity, which could underlie the learning and memory deficits in hydrocephalus. [ABSTRACT FROM AUTHOR]

Follow-up observation is required for mild-to-moderate hydrocephalic patients because of the potential damage to brain. However, effects of mild-to-moderate hydrocephalus on gray and white matter remain unclear in vivo. Using structural MRI and diffusion tensor imaging (DTI), current study compared the cortical thickness and white matter integrity between children with mild-to-moderate communicating hydrocephalus and healthy controls. The relationships between cortical changes and intelligence quota were also examined in patients. We found that cortical thickness in the left middle temporal and left rostral middle frontal gyrus was significantly lower in the hydrocephalus group compared with that of controls. Fractional anisotropy in the right corpus callosum body was significantly lower in the hydrocephalus group compared with that of controls. In addition, there was no association of cortical thinning or white matter fractional anisotropy with intelligence quota in either group. Thus, our findings provide clues to that mild-to-moderate hydrocephalus could lead to structural brain deficits especially in the middle temporal and middle frontal gyrus prior to the behavior changes. [ABSTRACT FROM AUTHOR]

Aim This study aimed to delineate the impact of posthaemorrhagic ventricular dilatation ( PHVD) on regional cerebral oxygen saturation (rc SO2) in preterm infants before and after ventricular decompression using near-infrared spectroscopy ( NIRS). Methods rc SO2 values were recorded, fractional tissue oxygen extraction ( FTOE) was calculated, cerebral ultrasound scans were performed, and resistive indices and ventricular width were collected before and after decompression. Where possible, amplitude-integrated electroencephalography ( aEEG) and visual evoked potentials ( VEPs) were recorded before and after decompression. Results We included nine preterm infants: nine with cranial ultrasound scan data, eight with NIRS data, seven with aEEG data and four with VEPs. The resistive index was stable and remained unchanged after decompression in all patients. Before decompression, the mean rc SO2 value was 42.6 ± 12.9% and increased to 55 ± 12.2% after decompression. With increasing ventricular width, FTOE showed a mean value of 0.51 ± 0.05 and decreased to a mean of 0.39 ± 0.12 after decompression. Amplitude-integrated electroencephalography showed a more continuous pattern, and VEPs showed delayed latencies in all patients before intervention, improving afterwards. Conclusion Near-infrared spectroscopy may be of additional clinical value in progressive PHVD to determine the optimal time point for ventricular decompression. [ABSTRACT FROM AUTHOR]

Endoscopic third ventriculostomy (ETV) is a routine and safe procedure for therapy of obstructive hydrocephalus. The aim of our study is to evaluate ETV success rate in therapy of obstructive hydrocephalus in pediatric patients formerly treated by ventriculoperitoneal (V-P) shunt implantation. From 2001 till 2011, ETV was performed in 42 patients with former V-P drainage implantation. In all patients, the obstruction in aqueduct or outflow parts of the fourth ventricle was proved by MRI. During the surgery, V-P shunt was clipped and ETV was performed. In case of favourable clinical state and MRI functional stoma, the V-P shunt has been removed 3 months after ETV. These patients with V-P shunt possible removing were evaluated as successful. In our group of 42 patients we were successful in 29 patients (69%).There were two serious complications (4.7%)-one patient died 2.5 years and one patient died 1 year after surgery in consequence of delayed ETV failure. ETV is the method of choice in obstructive hydrocephalus even in patients with former V-P shunt implantation. In case of acute or scheduled V-P shunt surgical revision, MRI is feasible, and if ventricular system obstruction is diagnosed, the hydrocephalus may be solved endoscopically. [ABSTRACT FROM AUTHOR]

Aim We sought to characterize visual motion processing in children with cerebral visual impairment (CVI) due to periventricular white matter damage caused by either hydrocephalus (eight individuals) or periventricular leukomalacia (PVL) associated with prematurity (11 individuals). Method Using steady-state visually evoked potentials (ssVEP), we measured cortical activity related to motion processing for two distinct types of visual stimuli: 'local' motion patterns thought to activate mainly primary visual cortex (V1), and 'global' or coherent patterns thought to activate higher cortical visual association areas (V3, V5, etc.). We studied three groups of children: (1) 19 children with CVI (mean age 9y 6mo [SD 3y 8mo]; 9 male; 10 female); (2) 40 neurologically and visually normal comparison children (mean age 9y 6mo [SD 3y 1mo]; 18 male; 22 female); and (3) because strabismus and amblyopia are common in children with CVI, a group of 41 children without neurological problems who had visual deficits due to amblyopia and/or strabismus (mean age 7y 8mo [SD 2y 8mo]; 28 male; 13 female). Results We found that the processing of global as opposed to local motion was preferentially impaired in individuals with CVI, especially for slower target velocities ( p=0.028). Interpretation Motion processing is impaired in children with CVI. ssVEP may provide useful and objective information about the development of higher visual function in children at risk for CVI. [ABSTRACT FROM AUTHOR]

This study examined paternal correlates of the cognitive and behavioral functioning of children with myelomeningocele, when controlling for maternal and biological/child correlates as possible sources of variance. Participants were 48 parent dyads of children with myelomeningocele (21 males, 27 females) between the ages of 4 and 12 years (mean 8y, 2mo , SD 2y 3mo). Lesion levels of participants ranged from the thoracic to sacral (thoracic–L3: n=15; L4–L5: n=15; sacral or lipomeningocele: n=18), of whom 38 had been shunted for hydrocephalus. Half of the participants ( n=24) were community ambulators. Potential predictors of cognitive and behavioral functioning included paternal and maternal parenting stress, as assessed by the Parenting Stress Index – Short Form paternal, and maternal perceptions of support and resources, as assessed by the Family Resource Scale and the Family Support Scale, and child medical severity. Paternal variables significantly correlated with behavioral functioning but not with cognitive functioning. Regression analyses revealed that paternal personal distress and maternal perceived adequacy of social support accounted for significant variance in overall child behavioral functioning. Only child medical severity and annual household income explained significant variance in overall child cognitive functioning. These findings add to the growing body of theory and research documenting that fathers make unique and significant contributions to child adjustment in children with myelomeningocele. Both fathers and mothers need to be considered in interventions supporting development and adjustment of children with myelomeningocele and their families. [ABSTRACT FROM AUTHOR]

We present a series of nine patients with early-onset hydrocephalus who had seizures and continuous spikes and waves during slow sleep (CSWS) associated with neurocognitive and motor deterioration. Six boys and three girls aged 9–16 years (mean 11.3 years) were studied. [Correction added after online publication 12-Apr-2008: Number of girls and boys has been updated.] All patients underwent clinical examinations, electroencephalographic evaluations, neuroradiological imaging and neuropsychological assessment at first examination. Antiepileptic drugs (AEDs) were given in all cases and changed according to clinical and EEG evolution. Onset of epilepsy occurred from age 8 to 60 months (mean 19.6 months and median 14 months) with focal seizures with or without secondary generalized tonic–clonic seizures. Between ages 6 and 13 years (mean 10.4 years and median 8 years), hyperkinesia, aggressiveness, and poor socialization appeared in all nine cases. Reduced attention span, deterioration of language, and temporospatial disorientation were found in three of them. Negative myoclonus was found in two patients. The EEG showed CSWS. Response to change in treatment was good in all patients. None of the patients had relapses, seven of them have remained seizure free, and two continued having sporadic focal motor seizures during 2–5 years (mean 3 years) of follow-up. In children with early-onset hydrocephalus, particularly with behavioral and language disturbances and/or motor deterioration, CSWS should be considered. Periodic EEG recordings during sleep should be done in these children. The early identification of this particular electroclinical picture is crucial to start adequate treatment to avoid progressive cognitive deterioration. [ABSTRACT FROM AUTHOR]

This study exampled the properties of a child-completed version of the Hydrocephalus Outcome Questionnaire (cHOQ) and compared these with parental responses to the HOQ (parent version). This was a cross-sectional study in the outpatient clinics at three Canadian paediatric hospitals (Toronto, Vancouver, and Halifax). All cognitively-capable children with previously treated hydrocephalus who were aged between 6 and 19 years were eligible. Parents completed the HOQ and the Health Utilities Index Mark 3; children completed the cHOQ. A total of 273 children participated (146 males, 127 females; mean age 14y 1mo, SD 2y 7mo). Internal consistency of the cHOQ was 0.93 and test–retest reliability was 0.86 (95% confidence interval 0.78–0.92). Mother–child agreement and father–child agreement were 0.57 (0.40–0.68) and 0.62 (0.48–0.73) respectively. Agreement was higher for assessments of physical health, but lower for assessments of cognitive health and social–emotional health. There was greater parent–child agreement for older children. When there was disagreement, it seemed that children tended to rate their health better than their parents did. In older children with hydrocephalus, the cHOQ appears to be a scientifically reliable means of assessing long-term outcome. The differences in child and parent perceptions of health need to be appreciated when conducting outcome studies in this population. [ABSTRACT FROM AUTHOR]

Background – Idiopathic normal pressure hydrocephalus (iNPH) is a reversible dementia in which fronto-striatal cognitive deficits and apathy may be present. Objectives – The study investigated structural volumetric changes in iNPH, apart from ventriculomegaly. Materials and methods – A full-brain voxel-based morphometric analysis between 11 iNPH patients and 14 healthy controls identified regions of interest (ROIs) for manual volumetric analyses. Results – Caudate and corpus callosum ROI measurements revealed diminished caudate nuclei volume in the iNPH group. Conclusions – The role of the caudate nucleus in cognitive and affective changes in iNPH should now be explored. [ABSTRACT FROM AUTHOR]

Hydrocephalus in children has many aetiologies, and can cause multiple ophthalmic and visual disorders. This study sets out to detect and quantify visual and visuoperceptual dysfunction in children who have received surgical treatment for hydrocephalus with and without myelomeningocele, and to relate the results to the associated diagnoses and results from a comparison group. Seventy-five school-aged children (41 males, 34 females) with surgically-treated hydrocephalus and 140 comparison children (76 males, 64 females) matched for age and sex underwent comprehensive ophthalmologic examination. Median age at examination was 9 years and 4 months (range 7y 4mo–12y 10mo). Visual function deficits were identified in 83% (62/75) of the children with hydrocephalus. Visual impairment (binocular visual acuity <0.3) was found in 15% (11/73; comparison group 0%) but in none with myelomeningocele. Strabismus was found in 69% (51/74; comparison group 4% [5/140], p<0.001), and refractive errors were found in 67% (47/70; comparison group 20% [28/140], p<0.001). Cognitive visual dysfunction was identified in 59% (38/64; comparison group 3% [4/140], p<0.001). These disorders were identified in various combinations and comprised impaired ability to plan movement through depth (e.g. going down a stair), impaired simultaneous perception, impaired perception of movement, impaired orientation, and (least frequently) impaired recognition. In this study, children with hydrocephalus associated with myelomeningocele were least commonly affected. Visual disorders were most frequent in those with epilepsy, cerebral palsy, and/or cognitive disability. [ABSTRACT FROM AUTHOR]

Background The high prevalence of latex sensitization in patients with spina bifida (SB) has been attributed to repeated and early exposure to latex products. Other diseases such as gastroschisis/omphalocoele and post-haemorrhagic/congenital hydrocephalus are also associated with repeated and early latex exposure. Objective The aim of the study was to evaluate whether the high prevalence of latex sensitization in patients with SB is rather related to the underlying disease itself than to disease-associated known risk factors. Methods We compared children with SB ( n=35), children with gastroschisis/omphalocoele (G/O, n=20) and children with post-haemorrhagic/congenital hydrocephalus (PH, n=45). All children with SB and PH had a ventriculo-peritoneal shunt since a very young age. Patients who underwent three or less surgical procedures matched in terms of age, number of operations, atopy and gender distribution, and were analysed for IgE sensitization rates to latex. Results In the SB group, 16 of 35 patients (46%) showed elevated latex-specific IgE antibodies in contrast to one of 20 patients (5%) in the G/O group and four of 45 patients (8.9%) in the PH group ( P<0.0005 and P<0.005, Fisher's exact test). Comparing matched control groups (⩽3 operations), the effects remained significant ( P<0.05 and P<0.01). Conclusion This study suggests that the SB population bears a disease-associated propensity for latex sensitization. This effect cannot be explained exclusively by a higher number of operations and differences related to atopy, age or gender. [ABSTRACT FROM AUTHOR]

Glutaric aciduria type 1 (GA-1) is an inborn error of metabolism that results from a deficiency of glutaryl-CoA dehydrogenase. This disorder mainly manifests in early childhood and most patients with this condition develop a dystonic-dyskinetic syndrome. We report the anesthetic management of two sisters with GA-1, aged 30 and 17 months respectively at the time of surgery, who presented with macrocephaly and psychomotor delay. The children required CSF shunting procedures for hydrocephalus and subdural fluid collections, which were performed under total intravenous anesthesia with propofol and remifentanil. [ABSTRACT FROM AUTHOR]

The many concerns of parents of children with hydrocephalus have not previously been assessed using a reliable, quantitative measurement. The development and preliminary use of a questionnaire to measure the concerns of these parents is reported. A general health status measure for hydrocephalus was developed concurrently. Items were generated primarily from parent focus groups resulting in a comprehensive list of 22 unique parental concern items. The most important of these items, as selected by another sample of parents of 60 children (27 females, 33 males; mean age 8y 4mo, [SD 4y 6mo]) were retained for the final questionnaire. This 9-item parental concerns questionnaire was tested for reliability and construct validity (by assessing correlations with various independent measures of health status, including Health Utilities Index–2 and Impact-on-Family Scale) using a cohort consisting of the parents of 80 children (39 females, 41 males; mean age 10y, [SD 3y 6mo]). An exploratory analysis was performed to determine which patient variables were associated with greater parental concern. The parental concerns questionnaire demonstrated excellent test–retest reliability (0.86, 95% CI 0.77–0.92) and internal consistency (Cronbach's alpha=0.89). As expected, interrater reliability was somewhat lower (0.67, 95% CI 0.49–0.79). Construct validity was demonstrated by consistently moderate Pearson's correlations with several independent measures of the child's health. The presence of epilepsy and younger patient age appeared to be significantly associated with greater parental concern. This new questionnaire has demonstrated very good psychometric properties. It can be used to broaden the scope of future clinical research in pediatric hydrocephalus to include the impact on parents. [ABSTRACT FROM AUTHOR]

Previously, our studies demonstrated language differences impacting academic performance among children with myelomeningocele and shunted hydrocephalus (MMSH). This follow-up study considers the environmental facilitators within families (achievement orientation, intellectual–cultural orientation, active recreational orientation, independence) among a cohort of children with MMSH and their relationship to language performance. Fifty-eight monolingual, English-speaking children (36 females; mean age: 10.1 years; age range: 7–16 years) with MMSH were evaluated. Exclusionary criteria were prior shunt infection; seizure or shunt malfunction within the previous 3 months; uncorrected visual or auditory impairments; prior diagnoses of mental retardation or attention deficit disorder. The Comprehensive Assessment of Spoken Language (CASL) and the Wechsler Abbreviated Scale of Intelligence (WASI) were administered individually to all participants. The CASL Measures four subsystems: lexical, syntactic, supralinguistic and pragmatic. Parents completed the Family Environment Scale (FES) questionnaire and provided background demographic information. Spearman correlation analyses and partial correlation analyses were performed. Mean intelligence scores for the MMSH group: full scale IQ 92.2 (SD = 11.9). The CASL revealed statistically significant difficulty for supralinguistic and pragmatic (or social) language tasks. FES scores fell within the average range for the group. Spearman correlation and partial correlation analyses revealed statistically significant positive relationships for the FES ‘intellectual–cultural orientation’ variable and performance within the four language subsystems. Socio-economic status (SES) characteristics were analyzed and did not discriminate language performance when the intellectual–cultural orientation factor was taken into account. The role of family facilitators on language skills in children with MMSH has not previously been described. The relationship between language performance and the families’ value on intellectual/cultural activities seems both statistically and intuitively sound. Focused interest in the integration of family values and practices should assist developmental specialists in supporting families and children within their most natural environment. [ABSTRACT FROM AUTHOR]

Aim: To determine the prevalence, aetiology and clinical outcome in children with surgically treated hydrocephalus.Methods: A population-based study of all 208 liveborn children with hydrocephalus, 124 with infantile hydrocephalus and 84 with hydrocephalus associated with myelomeningocoele, born during 1989-1998 in western Sweden. Aetiological and clinical information was collected from records.Results: The prevalence of hydrocephalus was 0.82 per 1000 live births, 0.49 for children with infantile hydrocephalus and 0.33 for children with myelomeningocoele. The prevalence of infantile hydrocephalus decreased during the period from 0.55 to 0.43 per 1000. In this group, the aetiology was prenatal in 55% and peri-postnatal in 44% of the children. The origin was perinatal haemorrhage in all cases born very preterm. The mortality rate was 5% for children with either infantile hydrocephalus or myelomeningocoele. Mental retardation, cerebral palsy and epilepsy were significantly more frequent in the group with infantile hydrocephalus: 46% vs 16%, 31% vs 4% and 31% vs 10%, respectively. All children with infantile hydrocephalus born very preterm had at least one of these impairments, as did 80% of those with overt hydrocephalus at birth.Conclusion: A slightly decreasing trend for infantile hydrocephalus was observed during the 10-y period. Children with infantile hydrocephalus had a worse outcome than those with myelomeningocoele. The need for neurosurgical revisions for two-thirds of the children indicates the need for further development of prevention and treatment strategies. [ABSTRACT FROM AUTHOR]

Bobble-head doll syndrome is a rare and unique movement disorder encountered in children. It is characterized by continuous or episodic involuntary forward and backward and side to side movement of the head at the frequency of 2–3 Hz. Neuroimaging in most of the cases reveals third ventricular tumors, suprasellar arachnoid cysts, aqueductal stenosis and other lesions in the region of the third ventricle along with communicating hydrocephalus. In most of the circumstances, the problem starts in the first decade of life and diversion of cerebrospinal fluid by shunt operation is very often accompanied by dramatic improvement. We report one case where bobbing of the head started at around 12 years of age. Additionally, there was evidence of partial left abducens nerve palsy, tremor in the outstretched hands, difficulty in finger-nose test and tandem walking, hyperreflexia and extensor plantar response. He was unconscious on two occasions and there was evidence of gross hydrocephalus along with a thin membranous web, running transversely across the lower part of the aqueduct of Sylvius without any cerebrospinal fluid flow void. Ventriculo-peritoneal shunt abolished the abnormal movements. We propose that the aqueductal web was the offending agent for the pathogenesis of bobble-head doll syndrome in our case and this lesion has not been identified in the cases reported so far. Relevant literature in this regard has also been reviewed. [ABSTRACT FROM AUTHOR]

Focuses on the remains of a child hominid discovered within a Mousterian archaeological context in the cave of Qafzeh, Israel. Manifestation of some outstanding skeletal abnormalities that indicate hydrocephalus; High proportion of children in Qafzeh Cave; Search for skeletal evidence of disease and trauma among Middle Paleolithic sites.

Examines the impairment of a motor skill in children with spina bifida cystica and hydrocephalus. Comparison of children's intelligence quotient on a 12-trial task; Focus on statistical method and ways of analyzing individual differences; Impairment in dotting speed in the spina bifida group; Neurological abnormalities in the spina bifida group.

Introduction Ventriculoperitoneal shunts for hydrocephalic children are known to cause serious complications such as GI perforation. Peroral extrusion of the peritoneal part of a ventriculoperitoneal shunt is very rare, and management could be a challenge. Materials and Surgical Technique An 11-year-old girl presented with peroral extrusion of the distal end of a ventriculoperitoneal shunt tube. Endoscopy and imaging studies showed that the peritoneal end had perforated the stomach and then extruded from the mouth. We used a surgical technique that combined endoscopy and laparoscopy to manage this rare complication. Discussion Peroral extrusion of a ventriculoperitoneal shunt tube occurs secondary to perforation of the upper GI tract. Managing this condition involves removing the shunt tube, attention to the perforated viscus and associated infection. A combination of endoscopy and laparoscopy provided superior views, enabled identification of the site and size of the perforated viscus, and facilitated the uneventful removal of the tube. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented regarding the use of bispectral index (BIS), an electroencephalographic processed parameter, in monitoring propofol anesthesia among children with hydrocephalus.

The article presents a case study of child suffering from mumps meningoencephalitis involving hydrocephalus which is a result of an imbalance between the formation and drainage of cerebrospinal fluid. Patient's history, physical examination done, diagnostic analysis and treatment suggested are discussed. The article suggests that Ventriculoperitoneal and ventriculoatrial shunts are effective for the treatment of acute hydrocephalus.

Introduction: Ventriculo‐peritoneal cerebrospinal fluid (CSF) shunt is the most common method of treating pediatric hydrocephalus. The Codman microadjustable valve (CMAV) is a CSF shunt constructed for children. The objective of the study was (a) to analyze complications after insertion of a CMAV shunt in hydrocephalic children, (b) to analyze complications after replacing a CMAV by an adult‐type Codman Hakim adjustable valve shunt (CHAV), and to (c) analyze the in vitro characteristics of the CMAV shunt and correlate the findings with the clinical performance of the shunt. Methods: A retrospective study analyzed a cohort of hydrocephalic children who had received a CMAV shunt and later replaced by a CHAV shunt. We report on the complications that resulted from replacing the CMAV with the CHAV. We tested six CMAV shunts with or without an antisiphon device (ASD) in which opening pressure, resistance, sensitivity to abdominal pressure, ASD position dependency, and function were determined. The test results were correlated with the clinical performance of the shunt in the retrospective study. Results: Thirty‐seven children (19 boys, 18 girls) were identified. Within the first month after shunt placement, a total of 10 patients (27%) developed complications including infections, hygromas, and shunt dysfunction. Shunt survival varied from 1 week to 145 months. Over the 10‐year follow‐up period, 13 children had their shunts replaced, six of them with a CHAV without any further complications. A bench test of the CMAV was done to test whether the opening pressure was in agreement with the manufacturer's specifications. Our results were generally in agreement with specifications stated by the manufacturer. Conclusion: Replacing a CMAV with a CHAV was well tolerated by the patients. Bench test results were generally in agreement with manufacturers specifications. Replacing a CMAV with a CHAV in pediatric hydrocephalus patients can be accomplished safely. The Codman microcerebrospinal fluid shunt has an adjustable valve (CMAV) designed for children. This study analyzed complications that result when replacing a CMAV by an adult‐type Codman Hakim adjustable valve shunt (CHAV) and the in vitro characteristics of the CMAV shunt. Replacing a CMAV with a CHAV was well tolerated by the patients. [ABSTRACT FROM AUTHOR]

The article presents a case study of a six-month-old male baby who underwent ventriculo-peritoneal (VP) shunt surgery for hydrocephalus. The study found that the drowning eye sign experienced by the child was caused by the pressure on the supra-pineal recess of the mid-brain with excessive cerebrospinal fluid (CSF). Following the surgery, the researchers observed a reduction in the child's head circumference, but they clarified that it was not associated with clinical neurological improvement.

The article presents a case study of a young boy who shows symptoms of suggestive of Parkinsonism and pisa syndrome (PS). The results of his brain magnetic resonance imaging (MRI) are discussed which showed chronic hydrocephalus and with improved symptoms after ventriculo peritoneal surgery. It is concluded that Parkinsonism can be a feature of normal pressure hydrocephalus which can be manifested in children and adolescents.

A 9-year-old female patient experienced progressive weakness and myalgias of shoulders and back of several months duration. Her medical history was notable for spina bifida in association with a Chiari type II malformation and hydrocephalus. Developmental motor milestones were delayed whereby walking began at age 2. She had mild bowel and bladder dysfunction. At presentation, her neurological exam was notable for weak shoulder adduction, hip and knee flexion and she demonstrated a partial Gower's maneuver. A muscle biopsy showed dystrophic changes and immunohistochemical findings of a Duchenne's mosaic which was confirmed by DNA analysis. The proposed pathogenesis in this case is unfavourable lyonization, which was corroborated by X-inactivation studies. [ABSTRACT FROM AUTHOR]

Abstract Hydrocephalus was a recognizable medical problem during the Byzantine period. In the medical texts of the time it was attributed to the pressure that was applied on the newborn's head during labour. The suggested treatments focused on the relief of the symptoms only and surgical methods were believed to be helpful in very rare cases. [ABSTRACT FROM AUTHOR]

An unusual case of cerebellar granular layer aplasia is reported. A 5-year-old boy was born with hydrocephalus and a peritoneal drainage shunt was placed after the delivery. Symptoms of cerebral paralysis, impaired mental function and cerebellar ataxia had developed gradually. Patient's karyotype was 46,XY. Laboratory tests for cytomegalovirus, Herpes simplex virus, Toxoplasma gondii , human immunodeficiency virus, rubella and hepatitis B virus were negative. Further laboratory investigation showed no signs of Tay-Sachs disease, Niemann-Pick disease, Gaucher disease, phenylketonuria, galactosemia or glycogen storage disease. No congenital malformations were traced in other family members for three generations. Radiation exposure and infections during the pregnancy were refuted. [ABSTRACT FROM AUTHOR]