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Neurological Abnormalities (neurological + abnormality)

Distribution by Scientific Domains

Medical Sciences	81%
Life Sciences	11%
2 Other Domains	8%

Distribution within Medical Sciences

Dermatology	17%
Neurology	13%
Urology	8%
9 Other Subdomains	49%

Selected Abstracts

Prognosis for the co-twin following single-twin death: a systematic review

BJOG : AN INTERNATIONAL JOURNAL OF OBSTETRICS & GYNAECOLOGY, Issue 9 2006
SSC Ong
Background, Following single-twin death, the perinatal mortality and morbidity for the surviving co-twin is increased but difficult to quantify. We present data on prognosis from a systematic review. Objectives, We aimed to determine the incidence of a) co-twin death, b) neurological abnormality and c) preterm delivery for the surviving co-twin following single-twin death after 14 weeks of gestation. Search strategy, Literature was identified by searching two bibliographical databases and specialist journals between 1990 and 2005. Selection criteria, The selected studies of ,5 cases reported on perinatal death and/or neurodevelopmental delay of the surviving co-twin. Data collection and analysis, Studies were assessed for quality and data extracted to allow computation of rates. The data were inspected for heterogeneity using a Forrest plot and examined statistically using the chi-square test. Data from individual studies were pooled within subgroups defined by prognosis. Main results, The search strategy yielded 632 potentially relevant citations. Full manuscripts were retrieved for 54 citations and 28 studies were finally included in the review. Following the death of one twin, the risk of monochorionic and dichorionic co-twin demise was 12% (95% CI 7,11) and 4% (95% CI 2,7), respectively. The risk of neurological abnormality in the surviving monochorionic and dichorionic co-twin was 18% (95% CI 11,26) and 1% (95% CI 0,7), respectively. The risk of preterm delivery was 68% (95% CI 56,78) and 57% (95% CI 34,77), respectively. Where there was comparative data within studies, the odds of monochorionic co-twin intrauterine death was six times that of dichorionic twins (OR 6.04 [95% CI 1.84,19.87]). Neurological abnormality was also higher in monochorionic compared with dichorionic pregnancies (OR 4.07 [95% CI 1.32,12.51]). Author's conclusions, More prospective research is required to inform decision making on this subject, especially with data that allow stratification based upon chorionicity. [source]

Allgrove syndrome with features of familial dysautonomia: A novel mutation in the AAAS gene

ACTA PAEDIATRICA, Issue 9 2006
Essam A. Ismail
Abstract Allgrove syndrome (or triple-A syndrome) is a rare autosomal recessive disorder characterized by alacrima, achalasia, adrenal insufficiency (glucocorticoid in the majority of cases) and autonomic/neurological abnormalities. This disease is now known to be caused by mutation in the AAAS gene located on chromosome 12q13. Diagnosis should be readily available when the full-blown features are there, but it becomes less apparent when presentation is atypical or in the evolving process. We present a brother and sister (12 and 19 y old, respectively) born to consanguineous parents of Palestinian origin with Allgrove syndrome. The index patient was erroneously diagnosed to be a case of familial dysautonomia before the diagnosis of adrenal insufficiency was made at the age of 7.5 y, while his elder sister had only alacrima from birth and developed achalasia at the age of 15 y. She started to develop early evidence of adrenal disease at the age of 19 y. Both of them had neuroautonomic dysfunction. The diagnosis of Allgrove syndrome was confirmed in these two patients by studying the gene mutation in the family. The sequencing of the AAAS gene in the two patients identified a novel homozygous mutation within intron 5 (IVS5+1(G),A). Both parents as well as all three other children were heterozygous for the same mutation. Conclusion: These two cases illustrate the heterogenous nature and the intrafamilial phenotypic variability of Allgrove syndrome. [source]

The Epidemiology of Convulsive Status Epilepticus in Children: A Critical Review

EPILEPSIA, Issue 9 2007
Miquel Raspall-Chaure
Summary:, There is ongoing debate regarding the most appropriate definition of status epilepticus. This depends upon the research question being asked. Based on the most widely used "30 min definition," the incidence of childhood convulsive status epilepticus (CSE) in developed countries is approximately 20/100,000/year, but will vary depending, among others, on socioeconomic and ethnic characteristics of the population. Age is a main determinant of the epidemiology of CSE and, even within the pediatric population there are substantial differences between older and younger children in terms of incidence, etiology, and frequency of prior neurological abnormalities or prior seizures. Overall, incidence is highest during the first year of life, febrile CSE is the single most common cause, around 40% of children will have previous neurological abnormalities and less than 15% will have a prior history of epilepsy. Outcome is mainly a function of etiology. However, the causative role of CSE itself on mesial temporal sclerosis and subsequent epilepsy or the influence of age, duration, or treatment on outcome of CSE remains largely unknown. Future studies should aim at clarifying these issues and identifying specific ethnic, genetic, or socioeconomic factors associated with CSE to pinpoint potential targets for its primary and secondary prevention. [source]

Lead toxicosis in the horse: A review

EQUINE VETERINARY EDUCATION, Issue 10 2010
B. Puschner
Summary Lead intoxication is rarely diagnosed in horses and can present a major challenge to the equine practitioner because of the variety of clinical signs. Horses with lead poisoning can develop gastrointestinal disturbances, neurological abnormalities, haematological changes, or nonspecific signs of weight loss, weakness and rough hair coat, which makes early diagnosis difficult. Fortunately, lead analysis of whole blood is routinely available and can confirm intoxication. Because of the well-described lead-induced peripheral neuropathies in horses, a thorough neurological examination is essential in the investigation of a suspect case. Once diagnosed, the source of lead has to be identified and further exposure prevented. Intoxication can be treated by administering chelating drugs and providing symptomatic and supportive care. [source]

Axonal integrity in the absence of functional peroxisomes from projection neurons and astrocytes

GLIA, Issue 13 2010
Astrid Bottelbergs
Abstract Ablation of functional peroxisomes from all neural cells in Nestin-Pex5 knockout mice caused remarkable neurological abnormalities including motoric and cognitive malfunctioning accompanied by demyelination, axonal degeneration, and gliosis. An oligodendrocyte selective Cnp-Pex5 knockout mouse model shows a similar pathology, but with later onset and slower progression. Until now, the link between these neurological anomalies and the known metabolic alterations, namely the accumulation of very long-chain fatty acids (VLCFA) and reduction of plasmalogens, has not been established. We now focused on the role of peroxisomes in neurons and astrocytes. A neuron-specific peroxisome knockout model, NEX-Pex5, showed neither microscopic nor metabolic abnormalities indicating that the lack of functional peroxisomes within neurons does not cause axonal damage. Axonal integrity and normal behavior was also preserved when peroxisomes were deleted from astrocytes in GFAP-Pex5,/, mice. Nevertheless, peroxisomal metabolites were dysregulated in brain including a marked accumulation of VLCFA and a slight reduction in plasmalogens. Interestingly, despite minor targeting of oligodendrocytes in GFAP-Pex5,/, mice, these metabolic perturbations were also present in isolated myelin indicating that peroxisomal metabolites are shuttled between different brain cell types. We conclude that absence of peroxisomal metabolism in neurons and astrocytes does not provoke the neurodegenerative phenotype observed after deleting peroxisomes from oligodendrocytes. Lack of peroxisomal metabolism in astrocytes causes increased VLCFA levels in myelin, but this has no major impact on neurological functioning. © 2010 Wiley-Liss, Inc. [source]

Afferent pathway dysfunction in children with primary nocturnal enuresis

INTERNATIONAL JOURNAL OF UROLOGY, Issue 2 2010
Linya Lv
Objectives: To investigate afferent pathway dysfunction in children with primary nocturnal enuresis by measuring pudendal somatosensory evoked potential and tibial somatosensory evoked potential. Methods: Subjects with primary nocturnal enuresis, 36 boys and 18 girls, aged from 5 to 16 years, were enrolled in this study: 24 subjects had complicated primary enuresis (CPE) and 30 subjects had monosymptomatic primary enuresis (MPE). There were no differences in bodyweight or gender between the MPE and CPE groups (P > 0.05). All of the children underwent physical examination, urine analysis, urinary ultrasound and spinal magnetic resonance imaging. Only subjects without urological and neurological abnormalities (with the exception of spina bifida occulta, which was found in some of the patients) were included in this neurophysiological study. Results: There were 20 children who were positively recorded with pudendal somatosensory evoked potential in the CPE group, and all of the children in the MPE group were positively recorded (P < 0.05). Positive records of tibial somatosensory evoked potential were successfully achieved in both groups. Furthermore, the pudendal and tibial conductive velocity were slower as compared to the normal range, especially in children in the CPE group (P < 0.001). Conclusions: Afferent pathway function may be impaired by some factors, which should be considered by both clinicians and parents. [source]

Inhibition of human squalene monooxygenase by selenium compounds

JOURNAL OF BIOCHEMICAL AND MOLECULAR TOXICOLOGY, Issue 1 2002
Nisha Gupta
Abstract Selenosis in animals is characterized by a variety of neurological abnormalities, but the chemical species of selenium and the molecular targets that mediate this neurotoxicity are unknown. We have previously shown that selenite is a potent inhibitor of squalene monooxygenase, the second enzyme in the committed pathway for cholesterol biosynthesis; inhibition of this enzyme by dimethyltellurium leads to a peripheral demyelinating neuropathy similar to that seen in selenosis. To evaluate the role methylation plays in selenium toxicity, we examined the ability of three methylselenium compounds, methylselenol, dimethylselenide, and trimethylselenonium iodide, to inhibit purified recombinant human squalene monooxygenase. IC50 values for methylselenol (95 ,M) and dimethylselenide (680 ,M) were greater than that previously obtained for selenite (37 ,M), and inhibition by trimethylselenonium iodide was evident only at concentrations above 3 mM. Inhibition by methylselenol as well as by selenite was slow and irreversible, suggestive of covalent binding to the enzyme, and thiol-containing compounds could prevent and reverse this inhibition, indicating that these compounds were reacting with sulfhydryl groups on the protein. Monothiols such as glutathione and ,-mercaptoethanol provided better protection than did dithiols, suggesting that these selenium compounds bind to only one of the two proposed vicinal cysteines on squalene monooxygenase. Unexpectedly, the inhibition by selenite was significantly enhanced by dithiols, indicating that a more toxic species, possibly selenide, was formed in the presence of these dithiol reductants. © 2002 Wiley Periodicals, Inc. J Biochem Mol Toxicol 16:18,23, 2002; DOI 10.1002/jbt.10014 [source]

Altered apolipoprotein E glycosylation is associated with A,(42) accumulation in an animal model of Niemann-Pick Type C disease

JOURNAL OF NEUROCHEMISTRY, Issue 6 2010
Ching-Ching Chua
J. Neurochem. (2010) 112, 1619,1626. Abstract Neurodegeneration is the final cause of death in Niemann-Pick Type C (NPC) disease, a cholesterol-storage disorder. Accumulating evidence indicates that NPC may share common pathological mechanisms with Alzheimer's disease, including the link between aberrant cholesterol metabolism and amyloid-, (A,) deposition. Apolipoprotein E (apoE) is highly expressed in the brain and plays a pivotal role in cholesterol metabolism. ApoE can also modulate A, production and clearance, and it is a major genetic risk factor for Alzheimer's disease. Although apoE is glycosylated, the functional significance of this chemical alteration on A, catabolism is unclear. In this study using an NPC animal model, we detect specific changes in apoE glycosylation that correlate with increased A,(42) accumulation prior to the appearance of neurological abnormalities. This suggests that increased apoE expression could be a compensatory response to the increased A,(42) deposition in NPCnih mice. We also observe what appears to be a simplification of the glycosylation process on apoE during neurodegeneration. [source]

Riluzole prolongs survival time and alters nuclear inclusion formation in a transgenic mouse model of Huntington's disease

MOVEMENT DISORDERS, Issue 4 2002
Johannes Schiefer MD
Abstract Glutamate excitotoxicity has been suggested to contribute to the pathogenesis of Huntington's disease (HD). Riluzole is a substance with glutamate antagonistic properties that is used for neuroprotective treatment in amyotrophic lateral sclerosis and which is currently tested in clinical trials for treatment of HD. R6/2 transgenic mice, which express exon 1 of the human HD gene with an expanded CAG triplet repeat, serve as a well-characterized mouse model for HD with progressing neurological abnormalities and limited survival. We treated R6/2 HD transgenic mice with riluzole orally beginning at a presymptomatic stage until death to investigate its potential neuroprotective effects in this mouse model and found that survival time in the riluzole group was significantly increased in comparison to placebo-treated transgenic controls. Additionally, the progressive weight loss was delayed and significantly reduced by riluzole treatment; behavioral testing of motor coordination and spontaneous locomotor activity, however, showed no statistically significant differences. We also examined the formation of the HD characteristic neuronal intranuclear inclusions (NII) immunohistologically. At a late disease stage, striatal NII from riluzole-treated transgenic mice showed profound changes in ubiquitination, i.e., NII were less ubiquitinated and surrounded by ubiquitinated micro-aggregates. Staining with antibodies directed against the mutated huntingtin revealed no significant difference in this component of NII. Taken together, these data suggest that riluzole is a promising candidate for neuroprotective treatment in human HD. © 2002 Movement Disorder Society [source]

Neonatal jaundice: a risk factor for infantile autism?

PAEDIATRIC & PERINATAL EPIDEMIOLOGY, Issue 6 2008
Rikke Damkjær Maimburg
Summary In a previous study, we found that infants transferred to a neonatal ward after delivery had an almost twofold increased risk of being diagnosed with infantile autism later in childhood in spite of extensive controlling of obstetric risk factors. We therefore decided to investigate other reasons for transfer to a neonatal ward, in particular hyperbilirubinaemia and neurological abnormalities. We conducted a population-based matched case,control study of 473 children with autism and 473 matched controls born from 1990 to 1999 in Denmark. Cases were children reported with a diagnosis of infantile autism in the Danish Psychiatric Central Register. Conditional logistic regression was used to calculate odds ratios (OR) and 95% confidence intervals [CI] and likelihood ratio tests were used to test for effect modification. We found an almost fourfold risk for infantile autism in infants who had hyperbilirubinaemia after birth (OR 3.7 [95% CI 1.3, 10.5]). In stratified analysis, the association appeared limited to term infants (,37 weeks gestation). A strong association was also observed between abnormal neurological signs after birth and infantile autism, especially hypertonicity (OR 6.7 [95% CI 1.5, 29.7]). No associations were found between infantile autism and low Apgar scores, acidosis or hypoglycaemia. Our findings suggest that hyperbilirubinaemia and neurological abnormalities in the neonatal period are important factors to consider when studying causes of infantile autism. [source]

Evaluation and management of pulmonary disease in ataxia-telangiectasia

PEDIATRIC PULMONOLOGY, Issue 9 2010
Sharon A. McGrath-Morrow MD
Abstract Ataxia-telangiectasia (A-T) is a rare autosomal recessive disorder caused by mutations in the ATM gene, resulting in faulty repair of breakages in double-stranded DNA. The clinical phenotype is complex and is characterized by neurologic abnormalities, immunodeficiencies, susceptibility to malignancies, recurrent sinopulmonary infections, and cutaneous abnormalities. Lung disease is common in patients with A-T and often progresses with age and neurological decline. Diseases of the respiratory system cause significant morbidity and are a frequent cause of death in the A-T population. Lung disease in this population is thought to exhibit features of one or more of the following phenotypes: recurrent sinopulmonary infections with bronchiectasis, interstitial lung disease, and lung disease associated with neurological abnormalities. Here, we review available evidence and present expert opinion on the diagnosis, evaluation, and management of lung disease in A-T, as discussed in a recent multidisciplinary workshop. Although more data are emerging on this unique population, many recommendations are made based on similarities to other more well-studied diseases. Gaps in current knowledge and areas for future research in the field of pulmonary disease in A-T are also outlined. Pediatr. Pulmonol. 2010; 45:847,859. © 2010 Wiley-Liss, Inc. [source]

Clinical neurological abnormalities in young adults with Asperger syndrome

PSYCHIATRY AND CLINICAL NEUROSCIENCES, Issue 2 2006
PEKKA TANI md
Abstract, Children with Asperger syndrome (AS), a neurodevelopmental disorder falling in the autism spectrum disorders, have an increased rate of neurological abnormalities, especially in motor coordination. While AS is a lifelong condition, little is known about the persistence of neurological abnormalities in adulthood. Twenty young adults with AS were compared with 10 healthy controls using a structured clinical neurological rating scale. The score for neurological abnormalities was higher in the AS group. In addition, a subscore for neurological soft signs indicating defective functioning of the central nervous system with a non-localizing value was significantly higher in the AS subjects. This preliminary study indicates that neurological abnormalities, soft signs in particular, represent a non-specific vulnerability factor for AS. Consistent with other features of AS, neurological abnormalities seem to persist into adulthood. [source]

Roles of perinatal problems on adolescent antisocial behaviors among children born after 33 completed weeks: a prospective investigation

THE JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY AND ALLIED DISCIPLINES, Issue 10 2008
Yoko Nomura
Background:, There is uncertainty about the extent to which mildly sub-optimal perinatal characteristics among individuals born near-term (>33 weeks of gestation) are associated with various subsequent childhood problems, including antisocial behavior. There is even more uncertainty about whether the pathway to antisocial behavior differs by gender. Methods:, A sample of 1689 infants, born near-term, was followed from birth for over 30 years. Using structural equation modeling (SEM), the study evaluated hypothesized mechanisms linking perinatal problems to antisocial behavior, mediated through the following variables in early and later childhood: neurological abnormalities at age 1; hearing, speech, and language problems at age 3; cognitive function at age 4; and academic performance at age 7. Childhood problems were assessed by trained research clinicians, blind to perinatal status. An ,antisocial behavior' variable was created, based on retrospective self-report of six antisocial incidences assessed in adulthood. Results:, Path coefficients showed that birthweight, head circumference, and Apgar scores were indirectly associated with antisocial behavior in the presence of one or more of the following: neurological abnormalities, abnormality in language, speech, and hearing, cognitive function, or academic performance. We found gender differences only in the associations between hearing and IQ and between language perception and IQ. Poor academic performance was associated with antisocial behavior in both boys and girls. Conclusion:, Our hypothesis, that perinatal problems may progress to antisocial behavior when mediated by various markers of early childhood problems, was confirmed. Adverse perinatal events need to be considered in identifying infants who are at risk for academic problems and antisocial behavior, even when the infant is born relatively close to term (i.e., >33 weeks). Poor academic performance, which is indirectly influenced by a variety of neurological and cognitive problems during the perinatal period, infancy, and early childhood appear to increase antisocial behavioral problems in both girls and boys. [source]

R6/2 neurons with intranuclear inclusions survive for prolonged periods in the brains of chimeric mice

THE JOURNAL OF COMPARATIVE NEUROLOGY, Issue 6 2007
Anton Reiner
Abstract The R6/2 mouse possesses mutant exon 1 of human Hdh, and R6/2 mice with 150 CAG repeats show neurological abnormalities by 10 weeks and die by 15 weeks. Few brain abnormalities, however, are evident at death, other than widespread ubiquitinated neuronal intranuclear inclusions (NIIs). We constructed R6/2t+/t, , wildtype (WT) chimeric mice to prolong survival of R6/2 cells and determine if neuronal death and/or neuronal injury become evident with longer survival. ROSA26 mice (which bear a lacZ transgene) were used as WT to distinguish between R6/2 and WT neurons. Chimeric mice consisting partly of R6/2 cells lived longer than pure R6/2 mice (up to 10 months), with the survival proportional to the R6/2 contribution. Genotypically R6/2 cells formed NIIs in the chimeras, and these NIIs grew only slightly larger than in 12-week pure R6/2 mice, even after 10 months. Additionally, neuropil aggregates formed near R6/2 neurons in chimeric mice older than 15 weeks. Thus, R6/2 neurons could survive well beyond 15 weeks in chimeras. Moreover, little neuronal degeneration was evident in either cortex or striatum by routine histological stains. Nonetheless, striatal shrinkage and ventricular enlargement occurred, and striatal projection neuron markers characteristically reduced in Huntington's disease were diminished. Consistent with such abnormalities, cortex and striatum in chimeras showed increased astrocytic glial fibrillary acidic protein. These results suggest that while cortical and striatal neurons can survive nearly a year with nuclear and extranuclear aggregates of mutant huntingtin, such lengthy survival does reveal cortical and striatal abnormality brought on by the truncated mutant protein. J. Comp. Neurol. 505:603,629, 2007. © 2007 Wiley-Liss, Inc. [source]

Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex

ANNALS OF NEUROLOGY, Issue 4 2008
Ling-Hui Zeng MD
Objective Tuberous sclerosis complex (TSC) represents one of the most common genetic causes of epilepsy. TSC gene inactivation leads to hyperactivation of the mammalian target of rapamycin signaling pathway, raising the intriguing possibility that mammalian target of rapamycin inhibitors might be effective in preventing or treating epilepsy in patients with TSC. Mice with conditional inactivation of the Tsc1 gene primarily in glia (Tsc1GFAPCKO mice) develop glial proliferation, progressive epilepsy, and premature death. Here, we tested whether rapamycin could prevent or reverse epilepsy, as well as other cellular and molecular brain abnormalities in Tsc1GFAPCKO mice. Methods Tsc1GFAPCKO mice and littermate control animals were treated with rapamycin or vehicle starting at postnatal day 14 (early treatment) or 6 weeks of age (late treatment), corresponding to times before and after onset of neurological abnormalities in Tsc1GFAPCKO mice. Mice were monitored for seizures by serial video-electroencephalogram and for long-term survival. Brains were examined histologically for astrogliosis and neuronal organization. Expression of phospho-S6 and other molecular markers correlating with epileptogenesis was measured by Western blotting. Results Early treatment with rapamycin prevented the development of epilepsy and premature death observed in vehicle-treated Tsc1GFAPCKO mice. Late treatment with rapamycin suppressed seizures and prolonged survival in Tsc1GFAPCKO mice that had already developed epilepsy. Correspondingly, rapamycin inhibited the abnormal activation of the mammalian target of rapamycin pathway, astrogliosis, and neuronal disorganization, and increased brain size in Tsc1GFAPCKO mice. Interpretation Rapamycin has strong efficacy for preventing seizures and prolonging survival in Tsc1GFAPCKO mice. Ann Neurol 2008 [source]

Acute unilateral poliosis concurrent with trigeminal autonomic cephalalgia: A possible aetiological association

AUSTRALASIAN JOURNAL OF DERMATOLOGY, Issue 1 2010
Do-Young Kwon
ABSTRACT We report a 24-year-old man who presented with the sudden onset of unilateral poliosis associated with acute trigeminal autonomic cephalalgia, suggesting a pathophysiology in common and a possible neural hypothesis in the development of segmental vitiligo. Although rare, associations with neurological abnormalities should be considered in cases of focal depigmentation disorders. [source]

Pre-clinical Dementia: Does it Exist?

AUSTRALASIAN JOURNAL ON AGEING, Issue 1 2001
Louise M. Waite
Identification of syndromes that will progress to dementia carries immense importance for the management of these diseases when therapies are available and for future research into effective early prevention. Evidence supporting the presence of a preclinical phase for dementia has arisen from a range of different areas. Clinical and epidemiological studies have identified both cognitive and neurological abnormalities which predict the future development of dementia. Similarly, various neuroimaging techniques have identified abnormalities in asymptomatic subjects with significant risk for developing Alzheimer's disease and subjects who show mild cognitive deficits. Neuropathological series are hampered by non-representative study populations and poor antemortem data but in studies where informants have been utilised to provide details of subjects' antemortem cognitive function, evidence indicates that the presence of brain pathology is associated with cognitive deficits. This paper reviews the current literature exploring the presence of a pre-clinical phase for dementia, identifies the weaknesses in this research and provides suggestions for future research. [source]

Complications of congenital melanocytic naevi in children: analysis of 16 years' experience and clinical practice

BRITISH JOURNAL OF DERMATOLOGY, Issue 4 2008
V.A. Kinsler
Summary Background, Congenital melanocytic naevi (CMNs) can be associated with abnormalities of the cental nervous system (CNS) and/or with melanoma. Quoted incidences for these complications vary in the literature, as do recommendations for investigations and follow-up. Objectives, To determine the incidence of complications, and to identify phenotypic features associated with a higher risk of complications. Methods, We reviewed records of 224 patients with CMNs seen in Dermatology clinic between 1991 and 2007. Patients were excluded if they had a complication at the time of referral. Magnetic resonance imaging (MRI) of the CNS was offered on the basis of CMN phenotype. Follow up was in clinic and/or by postal questionnaires. Results, One hundred and twenty patients (54 boys and 66 girls) who had MRI of the CNS were included in the analysis. Mean age at MRI was 2·46 years (median 1·20). Mean follow up was 8·35 years (median 7·86). Sixty-five per cent had naevi > 20 cm projected adult size or multiple CMNs (40% > 40 cm), and 83% had satellite lesions at birth. Outcome measures were MRI abnormality, clinical neurological abnormality, any tumour, malignant melanoma, and death. No complications were seen in the 16 patients with no satellite lesions at birth. MRI and/or clinical neurological abnormalities were found in 22 patients (18%) and were significantly associated with projected adult size of the CMN (particularly > 40 cm), and independently with male gender. Tumours occurred in five patients, two of which were malignant melanoma (1·7%). Due to small numbers there was no significant association between phenotype and occurrence of tumours. Three patients (2·5%) died (one from neuromelanosis and two from melanoma in patients with normal MRI scans). Death was significantly associated with CMN size > 40 cm. Importantly, there was no significant association between CMN distribution (including posterior axial location) and adverse outcomes. Conclusions, This is the largest study of CNS imaging in patients with CMNs. We report a newly recognized association between male gender and neurological complications, dispute the previously reported association between CMN site and neurological complications, and quantify the associations between CMN size, satellite lesions and neurological complications. We make recommendations for the management of these patients. [source]

An adult female patient with ring chromosome 21: behavioural phenotype and results of high-resolution molecular characterisation

ACTA NEUROPSYCHIATRICA, Issue 4 2010
Willem M.A. Verhoeven
Verhoeven WMA, Bon BV, Egger JIM, Hoischen A, Doelman JC. An adult female patient with ring chromosome 21: behavioural phenotype and results of high-resolution molecular characterisation. Objective: A female adult patient with mild to moderate mental retardation and minor dysmorphisms was referred for neuropsychiatric examination because of psychotic and autistic symptoms and impulsive behaviours. Methods: Standardized neuropsychiatric and neuropsychological assessment as well as detailed somatic and neurological examination was performed. For genetic analysis, karyotyping, whole genome array analysis, and high-resolution detailed analysis of chromosome 21 were carried through. Results: Karyotyping showed a de novo ring chromosome 21: 46,XX,der(21)r(21)(p11q22.3). High-resolution array analysis demonstrated a complex aberration consisting of an interstitial duplication in 21q21.1, an interstitial deletion in 21q22.2q22.3, an interstitial deletion in 21q22.3 and a terminal deletion of 21q22.3. Apart from mild dysmorphisms, visual and auditory impairments, and infertility, no somatic or neurological abnormalities were found. A formal psychiatric diagnosis could not be established. The behavioural problems and the supposed psychiatric symptoms could be related to her disharmonic social cognitive profile. The behaviour normalized after the patient returned to a stable and structured living environment. Conclusion: High-resolution micro-array analysis techniques are essential to substantiate the genotype,phenotype correlation in patients with r(21) and other genetic disorders. Moreover, the results of this study stress the importance of the recognition of alexithymia as a potential cause for behavioural problems and psychiatric symptoms in patients with mental retardation in general. [source]

Anti-aquaporin-4 antibody-positive optic neuritis

ACTA OPHTHALMOLOGICA, Issue 5 2009
Mineo Takagi
Abstract. Purpose:, It has recently been reported that the anti-aquaporin-4 antibody (AQP4-Ab) can be a specific marker of neuromyelitis optica. We present three cases of optic neuritis (ON) where the patients tested positive for AQP4-Ab, but showed no neurological signs. Methods:, Sera were obtained from 32 Japanese patients with ON and no other neurological abnormalities (mean age 46 ± 20 years). AQP4-Ab was detected by indirect immunofluorescence staining using human-AQP4-transfected HEK 293 cells. Results:, AQP4-Ab was positive in three female patients (aged 9, 64 and 82 years). Their illness was characterized by bilateral severe optic nerve involvement, insufficient visual recovery, and autoimmune abnormalities (such as positive antinuclear antibody). Two of these patients experienced recurrent episodes of ON. In at least two episodes, the intracranial portion of the optic nerve showed significant inflammation on magnetic resonance imaging. Conclusions:, These cases indicate that some ON patients have an immunological pathogenesis similar to that seen in neuromyelitis optica. In addition, examination for AQP4-Ab positivity in the initial phase of ON is important in predicting the prognosis, including the possibility of the development of transverse myelitis. [source]

Neurological symptoms in children with intussusception

ACTA PAEDIATRICA, Issue 11 2009
KJ Kleizen
Abstract Aim:, The classical combination of abdominal pain, vomiting, rectal blood loss and a palpable abdominal mass is only present in a minority of children with intussusception. Neurological signs and symptoms have been described, but are not a well understood phenomenon. We performed a retrospective study to ascertain the frequency and nature of these symptoms and to describe the characteristics of the patients presenting in this atypical way. Methods:, The records of 58 children presenting with intussusception from 2003 to 2008 were reviewed for abdominal and neurological signs and symptoms, duration of symptoms and effectiveness of treatment. Results:, In 10 out of 58 patients (17%), one or more neurological symptoms were recorded at presentation, with lethargy being the most frequent, followed by hypotonia and fluctuating consciousness. The patients with neurological abnormalities were significantly younger and presented with a shorter duration of symptoms. Therapy was more invasive, although not statistically significant, in this patient category. Conclusion:, Intussusception should be considered in the differential diagnosis in young children presenting with lethargy, hypotonia and/or sudden alterations of consciousness even in the absence of the classical symptoms of intussusception. [source]

Diffuse hypertrichosis and faun-tail naevus as cutaneous markers of spinal dysraphism

CLINICAL & EXPERIMENTAL DERMATOLOGY, Issue 8 2002
F. C. Antony
Summary We describe two cases of spinal dysraphism where detection of the cutaneous signs , namely a faun-tail naevus and diffuse hypertrichosis , led to early recognition of the occult neurological abnormalities and institution of corrective surgery. The dermatologist may be the first physician to observe these skin changes and an early neurosurgical referral can prevent subsequent neurological complications. [source]

Prognosis for the co-twin following single-twin death: a systematic review

The outcome of voiding dysfunction managed with clean intermittent catheterization in neurologically and anatomically normal children

BJU INTERNATIONAL, Issue 9 2002
H.G. Pohl
Objective,To describe the tolerability and efficacy of clean intermittent catheterization (CIC) in the management of dysfunctional voiding in patients who are neurologically and anatomically normal. Patients and methods,The medical records were reviewed in 23 patients (16 girls, mean age 9 years, range 6,14.5, and seven males, mean age 8 years, range 5,20.5) with urinary incontinence and/or urinary tract infection (UTI) who were offered CIC because they had a large postvoid residual urine volume (PVR). All had extensive instruction before starting CIC. All patients underwent urodynamic studies, and urinary and fecal elimination habits were recorded. Detrusor hyperactivity, when present, was treated with anticholinergic medication. The follow-up evaluation included tolerance of CIC, continence status and the incidence of UTI. Behavioural modification or biofeedback training was not used in any patient. Results,Of the 23 patients, 13 presented with both UTI and urinary incontinence, five with incontinence only, four with UTI only, one with frequency and no incontinence, and one with haematuria. Associated symptoms included frequency/urgency, constipation or soiling, and straining to void or incomplete emptying (in nine each), and infrequent voiding in six. CIC was performed within 2 days by 15 patients, while four others required up to 2 weeks to master CIC. However, three of the four patients (all older girls) who needed 2 weeks to learn the technique did not tolerate CIC and discontinued it within 3 weeks. Four other adolescents (three girls and one boy) refused to learn CIC. Of the 16 patients remaining on CIC only three had cystitis; no patient had a febrile UTI. Once successfully instituted, all patients became continent while on CIC. Six boys (mean follow-up 4 months) had a marked decrease in their PVR. CIC was discontinued in three girls who voided normally to emptiness within 6 months of starting CIC; they remained dry and infection-free 16 months (two) and 6 years later. Conclusion,CIC is a viable therapeutic option for the treatment of dysfunctional voiding, associated with a large PVR, in the absence of any neurological abnormality. CIC is well tolerated in the sensate patient and provides a means for expeditiously achieving continence and improving bladder emptying cost-effectively. [source]

Delineation of Early Changes in Cases with Progressive Supranuclear Palsy-Like Pathology.

BRAIN PATHOLOGY, Issue 2 2009
Astrocytes in Striatum are Primary Targets of Tau Phosphorylation, GFAP Oxidation
Abstract Progressive supranuclear palsy (PSP) is a complex tauopathy usually confirmed at post-mortem in advanced stages of the disease. Early PSP-like changes that may outline the course of the disease are not known. Since PSP is not rarely associated with argyrophilic grain disease (AGD) of varible intensity, the present study was focused on AGD cases with associated PSP-like changes in an attempt to delineate early PSP-like pathology in this category of cases. Three were typical clinical and pathological PSP. Another case presented with cognitive impairment, abnormal behavior and two falls in the last three months. One case suffered from mild cognitive impairment, and two had no evidence of neurological abnormality. Neuropathological study revealed, in addition to AGD, increased intensity and extent of lesion in three groups of regions, striatum, pallidus/subthalamus and selected nuclei of the brain stem, correlating with neurological impairment. Biochemical studies disclosed oxidative damage in the striatum and amygdala. Together the present observations suggest (i) early PSP-like lesions in the striatum, followed by the globus pallidus/subthalamus and selected nuclei of the brain stem; (ii) early involvement of neurons and astrocytes, but late appearance of tufted astrocytres; and (iii) oxidative damage of glial acidic protein in the striatum. [source]