| 1. |
- Alhusani, A, et al.
(author)
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Adenosine Kinase Deficiency: Report and Review
- 2019
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In: Neuropediatrics. - : Georg Thieme Verlag KG. - 1439-1899 .- 0174-304X. ; 50:1, s. 46-50
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Journal article (peer-reviewed)abstract
- Adenosine kinase (ADK) deficiency (OMIM [online mendelian inheritance in man]: 614300) is an autosomal recessive disorder of adenosine and methionine metabolism, with a unique clinical phenotype, mainly involving the central nervous system and dysmorphic features. Patients usually present early in life with sepsis-like symptoms, respiratory difficulties, and neonatal jaundice. Subsequently, patients demonstrate hypotonia and global developmental delay. Biochemically, methionine is elevated with normal homocysteine levels and the diagnosis is confirmed through molecular analysis of the ADK gene. There is no curative treatment; however, a methionine-restricted diet has been tried with variable outcomes. Herein, we report a 4-year-old Saudi female with global developmental delay, hypotonia, and dysmorphic features. Interestingly, she has a tall stature, developmental dysplasia of the hip, optic nerve gliosis, and tigroid fundus. We found a mutation not reported previously and we compared the current case with previously reported cases. We alert clinicians to consider ADK deficiency in any neonate presenting with global developmental delay, hypotonia, dysmorphic features, and high methionine levels.
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| 2. |
- Autti, Taina, et al.
(author)
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Bone marrow transplantation in aspartylglucosaminuria : histopathological and MRI study
- 1999
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In: Neuropediatrics. - : Georg Thieme Verlag KG. - 0174-304X .- 1439-1899. ; 30:6, s. 283-8
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Journal article (peer-reviewed)abstract
- This study comprised two patients with aspartylglucosaminuria (AGU), who were followed up for 4 and 7 years. The patients underwent allogeneic bone marrow transplantation (BMT) at the ages of 2 and 2.6 years. Both patients had abnormal speech development and gross motor clumsiness. At the time of the BMT, they were mentally retarded. We report on follow-up data of these patients obtained by MRI, in addition to the histopathological, biochemical and clinical investigations. MR images of six non-transplanted patients and seven healthy children served as controls. In the non-transplanted patients, MRI revealed evident delay of myelination in contrast to the two transplanted patients showing fair or evident grey- vs. white matter differentiation on T2-weighted images. The aspartylglucosaminidase (AGA) activity in blood leukocytes reached a heterozygous level. Urinary excretion of aspartylglucosamine and glycoasparagines slowly decreased but remained about a third of the pre-BMT level 5 years after BMT. Storage lysosomes in electron microscopic investigations were not decreased 6 months after BMT, but after 1.5-2 years, rectal mucosa samples showed a decrease in the storage vacuoles of different cells. Three years after BMT, no cells with storage vacuoles were present. Allogeneic BMT slowly normalises the pathological, biochemical and MRI findings in patients with AGU.
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| 3. |
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| 4. |
- Darin, Niklas, 1964, et al.
(author)
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Clinical, serological and PCR evidence of cytomegalovirus infection in the central nervous system in infancy and childhood.
- 1994
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In: Neuropediatrics. - : Georg Thieme Verlag KG. - 0174-304X .- 1439-1899. ; 25:6, s. 316-22
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Journal article (peer-reviewed)abstract
- Over a 3-year-period (Dec. 1990-Nov. 1993) 12 children were found PCR-positive for CMV-DNA in CSF and brain biopsies. Three of the patients were immunologically compromised. During the same period CSF samples from 10 shunt-operated children and 143 virological routine CSF samples were PCR CMV negative. Clinical association with positive PCR-CMV reaction was considered likely in 6 patients: two boys developed prolonged fever and meningoencephalitis following neurosurgery, one infant girl had a course compatible with congenital inclusion disease, and three had prolonged fever following transplantation. Clinical association was deemed probable in 3 infant girls: one had neonatal infection, meningitis and intraventricular haemorrhage, one had neonatal encephalitis and failure to thrive, and one with neonatal seizures and encephalitis developed brain atrophy. Clinical association was judged possible in 3 patients: one infant girl with no signs of encephalitis developed brain atrophy, one had an Aicardi Type 1 syndrome and one 2 1/2-year-old boy had an acute encephalitis with insufficient serological support for CMV but was 12 months later PCR positive for CMV. We conclude that CMV may be an overlooked infectious agent of the CNS also in immunocompetent children. PCR aids in rapid diagnosis of CMV infection in the immunocompromised. CMV may occasionally be disclosed with PCR in other conditions as a probably non-relevant observation.
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| 5. |
- Fernell, Elisabeth, 1948, et al.
(author)
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Epidemiology of infantile hydrocephalus in Sweden: a clinical follow-up study in children born at term.
- 1988
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In: Neuropediatrics. - : Georg Thieme Verlag KG. - 0174-304X .- 1439-1899. ; 19:3, s. 135-142
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Journal article (peer-reviewed)abstract
- The long-term outcome of infantile hydrocephalus (IH) in children born at term during a period of active shunt treatment was studied in a population-based survey. The series consisted of 68 children greater than or equal to 6 years old and born in 1967-78 in the south-western Swedish health care region. The clinical follow-up included neuro-paediatric assessment, Stott's test of motor impairment, the WISC test, CT and EEG analyses. Nineteen of the 68 children (28%) had cerebral palsy, 17 (25%) minor motor dysfunction and 32 (47%) no motor dysfunction; mental retardation was present in 26 (38%), 16 with an IQ 50-70 and 10 with IQ less than 50; 42 children (62%) had normal intelligence and epilepsy was found in 15 (22%). Compared with a non-shunted IH series from the 1950s, the survival of IH children had considerably increased. Of constituents characterizing the IH syndrome from the time prior to shunting, ataxia, divergent squint and the special "Cocktail-party behaviour" had significantly decreased, all of which conditions are highly related to chronic expansion of the ventricular system. The frequencies of other impairments such as mental retardation and epilepsy were fairly similar, reflecting the present increased survival of IH children with primarily non-IH-dependent brain damage. IH children with associated brain parenchymal defects had the poorest outcome, and those without had in general a much more favourable one. Thus the single most important factor for the outcome of IH was found to be the presence or absence of associated primary brain damage or maldevelopment.
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| 6. |
- Fernell, Elisabeth, 1948, et al.
(author)
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Epidemiology of infantile hydrocephalus in Sweden. Current aspects of the outcome in preterm infants.
- 1988
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In: Neuropediatrics. - : Georg Thieme Verlag KG. - 0174-304X .- 1439-1899. ; 19:3, s. 143-145
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Journal article (peer-reviewed)abstract
- The outcome in a population-based series of 61 Swedish preterm infants born in 1967-82 with infantile hydrocephalus (IH) was investigated. Sixteen (26%) died before the age of two years. The available information was updated when the 45 surviving children were at least four years and six months old. A structured follow-up examination was performed in the 13 children who had passed the age of six years. Among the 45 survivors, 47% had cerebral palsy, 51% mental retardation and 33% epilepsy. The overall outcome for preterm infants with IH was found to be poorer than that for fullterm ones. Prognostic factors correlating to a poor outcome were an obvious origin of IH (pre- or perinatal) and a gestational age of less than 28 weeks. It is concluded that handicapped IH children born very or extremely prematurely constitute a new, and to a large extent severely brain-damaged group that has entered the Swedish IH panorama since the end of the 1970s.
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| 7. |
- Gillberg, Christopher, 1950, et al.
(author)
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Childhood psychosis in a case of Moebius syndrome.
- 1984
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In: Neuropediatrics. - : Georg Thieme Verlag KG. - 0174-304X .- 1439-1899. ; 15:3, s. 147-149
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Journal article (peer-reviewed)abstract
- A case of a five-year-old boy with Moebius syndrome, mild-moderate mental retardation and childhood psychosis (possibly infantile autism) is described. This is probably the first case ever of concomitant Moebius syndrome and childhood psychosis to be reported. Brainstem dysfunction is proposed as a common denominator in the neurologic and psychiatric syndrome.
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| 8. |
- Gillberg, Christopher, 1950, et al.
(author)
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Epilepsy presenting as infantile autism? Two case studies.
- 1983
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In: Neuropediatrics. - : Georg Thieme Verlag KG. - 0174-304X .- 1439-1899. ; 14:4, s. 206-212
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Journal article (peer-reviewed)abstract
- Two cases diagnosed as suffering from infantile autism are described. Underlying epileptogenic changes in the EEG were not disclosed until relatively late in the course of the psychiatric disorder. Anticonvulsive pharmacological treatment led to complete disappearance of psychotic symptoms and to simultaneous disappearance of the pathological EEG changes. Alternative mechanisms are proposed to account for the clinical phenomena.
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| 9. |
- Hagberg, Gudrun, 1924, et al.
(author)
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Epidemiology of infantile hydrocephalus in Sweden. Reduced optimality in prepartum, partum and postpartum conditions. A case-control study.
- 1988
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In: Neuropediatrics. - : Georg Thieme Verlag KG. - 0174-304X .- 1439-1899. ; 19:1, s. 16-23
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Journal article (peer-reviewed)abstract
- The optimality concept developed by Prechtl was adopted to investigate a population-based series of infantile hydrocephalus (IH). The results were compared with those from a control series of newborns. The case series comprised 128 IH children born at term and 50 born preterm, and the control series 269 and 176, respectively. Cases with a prenatal cause of IH, as compared with those with a perinatal cause and controls, had significantly increased risk of IH by reduced optimality in the prepartum period. Peaks in the flow of non-optimal items in the prenatal group were repeated abortions or perinatal death in previous pregnancies, maternal disorder and twin birth. The profile of reduced optimality in term IH cases of undefined cause was similar to that of term cases with a prenatal cause. All IH cases had significantly increased reduced optimality in the postpartum period compared with controls. The increase was massive in cases where IH was of perinatal cause, with peaks in items of acidosis, apnea, respiratory treatment, infection and cerebral irritation. Reduced optimality in partum conditions did not discriminate between IH of pre- and perinatal cause. Reduced optimality in the prepartum, partum and postpartum periods in IH children, as compared with those with cerebral palsy syndromes, was nearly identical to that of hemiplegic, and significantly lower than that of diplegic and dyskinetic, cerebral palsy.
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| 10. |
- Hellström-Westas, Lena, et al.
(author)
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Early prediction of outcome with aEEG in preterm infants with large intraventricular hemorrhages
- 2001
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In: Neuropediatrics. - : Georg Thieme Verlag KG. - 0174-304X .- 1439-1899. ; 32:6, s. 319-324
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Journal article (peer-reviewed)abstract
- BACKGROUND: The electrocortical background contains prognostic information in full-term asphyxiated newborn infants already during the first postnatal hours. In preterm infants with intra-ventricular hemorrhages (IVH) the background activity in EEG and amplitude-integrated EEG (aEEG) is depressed during the first days of life, and the extent of the depression correlates with the degree of IVH. However, it has not been previously evaluated whether very early aEEG can predict later outcome also in pre-term infants. OBJECTIVE: To investigate if early prediction of outcome is possible from aEEG in preterm infants with large IVH. METHODS: aEEG recordings from the first postnatal week were investigated in 64 preterm infants with IVH grade III - IV. For every 24-hour period the aEEG background pattern was classified, and the maximum and minimum numbers of bursts/h, respectively,were counted. Outcome was divided into three categories: died (n = 36), survived (n = 28) with "poor" outcome, i.e., severe cerebral palsy and not able to walk and/or mental retardation (n = 8), and survived with "fair" outcome, i.e., healthy or mild cerebral palsy (n = 19). One surviving child was lost in the follow-up. RESULTS: There were significant differences in maximum bursts/h (MaxB) at 0-24 hours (p = 0.033), 24-48 hours (p = 0.011), 48-72 hours (p=0.049) and 72-96 hours (p=0.032), respectively, between the infants who died and the surviving infants. At 24-48 hours the median (range) MaxB in the surviving infants with "fair" outcome was 156 (103-179) versus 102 (73-156) in the surviving infants with "poor" outcome (p = 0.002). With the assumption that MaxB < 130 was predictive of death or survival with "poor" outcome, 68 % and 78% of infants were correctly predicted at 0-24 hours and 24-48 hours, respectively. CONCLUSIONS: This study shows that outcome may be predicted with aEEG already during the first days of life in preterm infants with large IVH. The findings should be confirmed in prospective studies since they may have clinical implications if specific medical interventions become available.
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| 11. |
- Himmelmann, Kate, 1959, et al.
(author)
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Access to Intrathecal Baclofen Treatment for Children with Cerebral Palsy in European Countries: An SCPE Survey Reveals Important Differences.
- 2020
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In: Neuropediatrics. - : Georg Thieme Verlag KG. - 1439-1899 .- 0174-304X. ; 51:2, s. 129-134
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Journal article (peer-reviewed)abstract
- The aim is to study access to intrathecal baclofen (ITB) for children with cerebral palsy (CP) in Europe, as an indicator of access to advanced care.Surveys were sent to CP registers, clinical networks, and pump manufacturers. Enquiries were made about ITB treatment in children born in 1990 to 2005 by sex, CP type, level of gross motor function classification system (GMFCS) and age at the start of treatment. Access to ITB was related to the country's gross domestic product (GDP) and % GDP spent on health.In 2011 population-based data from Sweden, Norway, England, Portugal, Slovenia, and Denmark showed that 114 (3.4%) of 3,398 children with CP were treated with ITB, varying from 0.4 to 4.7% between centers. The majority of the children were at GMFCS levels IV-V and had bilateral spastic CP. In Sweden, dyskinetic CP was the most commonly treated subtype. Boys were more often treated with ITB than girls (p=0.014). ITB was reported to be available for children with CP in 25 of 43 countries. Access to ITB was associated with a higher GDP and %GDP spent on health (p<0.01). Updated information from 2019 showed remaining differences between countries in ITB treatment and sex difference in treated children was maintained.There is a significant difference in access to ITB for children with CP across Europe. More boys than girls are treated. Access to ITB for children with CP is associated with GDP and percent of GDP spent on health in the country.
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| 12. |
- Holmgren, G, et al.
(author)
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Positive effect of a late introduced modified diet in an 8-year-old pku child.
- 1980
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In: Neuropadiatrie. - : Georg Thieme Verlag KG. - 0028-3797. ; 11:1, s. 76-9
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Journal article (peer-reviewed)abstract
- A modified low phenylalanine diet was instituted in an 8-year-old PKU boy earlier untreated and mentally retarded. The boy was treated during a ten year observation period. A marked progress in mental capacity and in IQ scoring was seen. The difficulties in objective evaluation of the benefit of late introduced treatment with a diet low in phenylalanine is discussed.
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| 13. |
- Horber, V., et al.
(author)
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The Origin of the Cerebral Palsies: Contribution of Population-Based Neuroimaging Data
- 2020
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In: Neuropediatrics. - : Georg Thieme Verlag KG. - 0174-304X .- 1439-1899. ; 51:2, s. 113-119
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Journal article (peer-reviewed)abstract
- Background Surveillance of cerebral palsy in Europe (SCPE) presents the first population-based results on neuroimaging findings in children with cerebral palsy (CP) using a magnetic resonance imaging classification system (MRICS). Method MRIs of children with CP born between 1999 and 2009 from 18 European countries were analyzed. MRICS identifies patterns of brain pathology according to timing during brain development which was analyzed with respect to CP subtypes and gestational age. Results MRIs or written reports from 3,818 children were available. The main clinical characteristics were similar to the 5,415 without such data. Most frequent was predominant white matter injury (49%), followed by predominant gray matter injury (21%). Maldevelopments were found in 11% of cases. Miscellaneous findings were present in 8.5% and normal findings in 10.6%. MRI patterns of children with unilateral spastic, bilateral spastic, and dyskinetic CP were mainly lesional (77, 71, and 59%, respectively), whereas children with ataxic CP had more maldevelopments, miscellaneous, and normal findings (25, 21, and 32%, respectively). In children born preterm, predominant white matter injury was most prevalent (80% in children born <32 weeks of gestation). Conclusion Analysis of MRI in the European CP database identified CP as a mainly lesional condition on a large population basis, maldevelopments were relatively uncommon. An exception was ataxic CP. Children born preterm mostly presented with a lesion typical for their gestational age (GA) at birth. The decreasing prevalence of CP in this group suggests that progress in perinatal and neonatal medicine may lead to a reduction of these lesions.
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| 14. |
- Kristjánsdóttir, Ragnhildur, et al.
(author)
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Cerebrospinal fluid markers in children with cerebral white matter abnormalities.
- 2001
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In: Neuropediatrics. - : Georg Thieme Verlag KG. - 0174-304X .- 1439-1899. ; 32:4, s. 176-82
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Journal article (peer-reviewed)abstract
- Disorders of the cerebral white matter in children constitute a heterogeneous group and the diagnostic work is often complicated. Clinical and radiological characteristics can provide diagnostic clues but there is a need for further diagnostic methods. This study focused on assessing neurochemical "markers" in the cerebrospinal fluid considered to reflect damage to white matter components such as myelin and glial cells as well as neurones with their axons and synapses. The aim was to evaluate whether they contributed to the elucidation of pathogenic processes and the direction of further diagnostic efforts. Seventeen of the 26 cases had increased levels of the glial cell marker ganglioside GD3, indicating gliosis, or of the CNS myelin marker sulfatide, indicating myelin disturbance. As signs of disturbed maturation or sustenance, the nerve cell markers GD1 b, GT1 b and total gangliosides were reduced, as was the synapse marker GD1a. Increased 5-HIAA indicated increased serotonergic turnover. Children with an increased level of the axonal marker Tau protein had a progressive disease whereas GD1a was reduced in the progressive group (n = 11). In contrast, GD3 and HVA were increased in the non-progressive group (n = 15). The chemical profiles were found to be useful, in combination with clinical and radiological findings, when investigating children with white matter abnormalities.
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| 15. |
- Kristjánsdóttir, Ragnhildur, et al.
(author)
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Disorders of the cerebral white matter in children. The spectrum of lesions.
- 1996
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In: Neuropediatrics. - : Georg Thieme Verlag KG. - 0174-304X .- 1439-1899. ; 27:6, s. 295-8
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Journal article (peer-reviewed)abstract
- The use of magnetic resonance imaging (MRI) has resulted in the detection of an increasing number of children with an apparently leukodystrophic white matter. Laboratory tests and the clinical presentation, however, often do not correspond to any known entity and the course is sometimes not progressively deteriorating. Such children with white-matter changes and no known diagnosis were the subject of this Swedish multicentre study, in which MRI findings and clinical data from 100 children considered to have white-matter abnormalities were assessed during the period 1992-1995. At re-evaluation of MR images by an established "white-matter group" of neuroradiologists, paediatric neurologists, neurologists and neurochemists, the MRI signal of the white matter was considered normal in eleven children and eleven had mainly a grey matter affection. Of the remaining 78 children with white matter abnormalities, a diagnosis was found in 32, but in 46 children no diagnosis could be established. A progressive downhill course characterised 17, probably representing hitherto undefined types of leukodystrophies. Five children had a relapsing-remitting course, and in 11 it was difficult to establish whether the course was progressive or stationary. The disease was non-progressive in 13. This group of non-leukodystrophic white-matter changes obviously represents maldevelopments of myelin formation, thus dys- or hypomyelination rather than demyelination.
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| 16. |
- Kristjánsdóttir, Ragnhildur, et al.
(author)
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Glial fibrillary acidic protein and neurofilament in children with cerebral white matter abnormalities.
- 2001
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In: Neuropediatrics. - : Georg Thieme Verlag KG. - 0174-304X .- 1439-1899. ; 32:6, s. 307-12
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Journal article (peer-reviewed)abstract
- Glial fibrillary acidic protein (GFAP) is the major structural protein of the intermediate filaments found in glial cells. Increased levels in the cerebrospinal fluid (CSF) have been found to indicate gliosis. Neurofilament (NFL) is a structural element of neurons, mainly found in large myelinated axons. Its presence in the CSF has been suggested to reflect destruction of axons. The aim of this study was to see if GFAP and NFL in the CSF of children with neurological disabilities and an abnormal signal on magnetic resonance imaging (MRI) of the cerebral white matter could be used to clarify the underlying neuropathology. The potential of GFAP and NFL to differentiate a progressive disease from a stationary disorder was investigated, as was the correlation with disability and clinical findings. CSF from 26 children, eleven with progressive and 15 with non-progressive disorders, was analysed. GFAP was increased in all, interpreted to reflect gliosis. NFL was elevated in seven and considered to indicate ongoing neuroaxonal damage as all but one patient were found to have a progressive disease. GFAP did not differentiate between progressive and non-progressive disorders, although low levels were found in stationary and high levels in progressive disorders. The severity of the disability correlated with the NFL levels, but not with the concentration of GFAP.
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| 17. |
- Kyllerman, Mårten, 1941, et al.
(author)
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Late cerebral graft versus host reaction in a bone marrow transplanted girl with Hurler (MPS I) disease.
- 2008
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In: Neuropediatrics. - : Georg Thieme Verlag KG. - 0174-304X .- 1439-1899. ; 39:5, s. 249-51
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Journal article (peer-reviewed)abstract
- A girl with Hurler disease (MPS IH) underwent allogeneic stem cell transplantation at 13 months of age with her one HLA-B antigen mismatch mother as donor. The procedure was complicated by cerebral hemorrhage and a ventricular-peritoneal shunt device was inserted. Mild GVH reactions were rapidly reversed. One year after transplantation ventriculitis was suspected and the shunt was replaced by a ventricular drainage catheter. Antibiotics had no effect and graft-versus-host disease (GVHD) was diagnosed. All symptoms were reversed by prednisolone and cyclosporine. Increased albumin and pleocytosis in the cerebrospinal fluid (CSF) normalized concomitantly. Electron microscopy of the CSF sediment showed debris consisting of numerous complex aggregates of thin lamellae and electron dense fragments with a tight lamellar texture. Biochemical analysis of the CSF sediment proved that the debris contained galactosylceramide and sulfatide. The electron microscopic and biochemical findings were interpreted to represent stripping of central myelin as a result of subacute GVHD in the central nervous system and its desquamation from the brain parenchyma into the ventricular CSF through the post-hemorrhage defect. From reversal of the GVHD at 2 years of age until follow-up at 10 years of age the clinical condition remained stable with no recurrence or deterioration.
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| 18. |
- Laegreid, Liv, et al.
(author)
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Benzodiazepine amplification of valproate teratogenic effects in children of mothers with absence epilepsy.
- 1993
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In: Neuropediatrics. - : Georg Thieme Verlag KG. - 0174-304X .- 1439-1899. ; 24:2, s. 88-92
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Journal article (peer-reviewed)abstract
- Valproate (VPA) is one of the most frequently used antiepileptic drugs (AEDs). Concern has recently been raised regarding VPA medication during pregnancy and teratogenic effects in the offspring. Both neural tube defects (5, 18, 34) and a constellation of signs termed the fetal valproate syndrome (1, 12) have been reported. Benzodiazepines (BZDs) are also widely used and sometimes as effective adjunctives in AED therapy. Both VPA and BZD have close connections to GABA transmission. Recently, clinical and epidemiological human studies (26, 27, 37, 39), supported by animal studies (17, 24, 40), have indicated that BZDs may act as human teratogens. We report on 7 children with congenital malformations, dysmorphism and abnormal neurological signs from birth. The mothers had well controlled primary generalized absence epilepsy without major seizures during pregnancy. Five children had been exposed to VPA monotherapy and two children to VPA and BZD combined during the first trimester. Those two infants had myelomeningoceles and the most pronounced dysmorphism in the group. We propose that these observations indicate a possible amplifying action of BZDs on VPA teratogenicity. Unrecognized BZD use during pregnancies exposed to VPA may be of importance when estimating the teratogenic risks of VPA therapy.
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| 19. |
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| 20. |
- Livingston, John H, et al.
(author)
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Leukoencephalopathy with Calcifications and Cysts : A Purely Neurological Disorder Distinct from Coats Plus
- 2014
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In: Neuropediatrics. - : Georg Thieme Verlag KG. - 0174-304X .- 1439-1899. ; 45:3, s. 175-182
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Journal article (peer-reviewed)abstract
- Objective With the identification of mutations in the conserved telomere maintenance component 1 (CTC1) gene as the cause of Coats plus (CP) disease, it has become evident that leukoencephalopathy with calcifications and cysts (LCC) is a distinct genetic entity. Patients and Methods A total of 15 patients with LCC were identified from our database of patients with intracranial calcification. The clinical and radiological features are described. Results The median age (range) at presentation was 10 months (range, 2 days-54 years). Of the 15 patients, 9 presented with epileptic seizures, 5 with motor abnormalities, and 1 with developmental delay. Motor abnormalities developed in 14 patients and cognitive problems in 13 patients. Dense calcification occurred in the basal ganglia, thalami, dentate nucleus, brain stem, deep gyri, deep white matter, and in a pericystic distribution. Diffuse leukoencephalopathy was present in all patients, and it was usually symmetrical involving periventricular, deep, and sometimes subcortical, regions. Cysts developed in the basal ganglia, thalamus, deep white matter, cerebellum, or brain stem. In unaffected areas, normal myelination was present. No patient demonstrated cerebral atrophy. Conclusion LCC shares the neuroradiological features of CP. However, LCC is a purely neurological disorder distinguished genetically by the absence of mutations in CTC1. The molecular cause(s) of LCC has (have) not yet been determined.
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| 21. |
- Lundvall, M, et al.
(author)
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Male Rett phenotypes in T158M and R294X MeCP2-mutations.
- 2006
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In: Neuropediatrics. - : Georg Thieme Verlag KG. - 0174-304X .- 1439-1899. ; 37:5, s. 296-301
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Journal article (peer-reviewed)abstract
- We report on three patients with MeCP2 mutation and male Rett phenotypes. Two brothers with T158M mutations and normal karyotype had a severe early onset encephalopathy, progressive microcephaly, severe feeding problems, breathing and sleep disturbances. They died at the ages of 1 year and 8 months, and 3 years and 1 month. This mutation has previously been reported in three males. The phenotypes show a strong resemblance, and might in fact represent a clinical-genetic entity of the T158M mutation within the complex of congenital encephalopathies in males with MeCP2 mutations. We also report a 3-year-old boy with a R294X mutation, normal karyotype, and a more protracted course. He was inactive and sucked poorly from start. The head growth decelerated from the age of 6 months and the feeding problems increased requiring gastrostomy. He had a rapid deterioration period at 2 years and lost sitting and hand grasping functions. He had prolonged periods with tremor and epileptic myoclonus, shifting tonus, and dystonic extension of the trunk and legs, bruxism, and irregular breathing. He was clinically stable with preserved visual and emotional contact function by the age of four years. None of the boys had dysmorphic features.
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| 22. |
- Moslemi, Ali-Reza, et al.
(author)
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Progressive encephalopathy and complex I deficiency associated with mutations in MTND1.
- 2008
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In: Neuropediatrics. - : Georg Thieme Verlag KG. - 0174-304X .- 1439-1899. ; 39:1, s. 24-8
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Journal article (peer-reviewed)abstract
- Complex I of the oxidative phosphorylation system is composed of at least 45 subunits, seven of which are encoded by mitochondrial DNA (mtDNA). In this study we have investigated two children with complex I deficiency in muscle mitochondria. Patient 1 had cerebellar ataxia from early infancy and an abnormal MRI of the brain compatible with Leigh syndrome (LS). The course was rapidly progressive with frequent exacerbations and death at 2 years and 10 months of age. Patient 2 had a lactic acidosis in the newborn period and had a severe psychomotor developmental retardation. In her teens she developed hypertrophic cardiomyopathy and died at 26 years of age because of cardiac insufficiency. Sequencing analysis of mitochondrial encoded ND genes (MTND) showed two DE NOVO mutations in MTND1 in both patients. Patient 1 had a novel heteroplasmic G3890A mutation, R195Q. Patient 2 had a heteroplasmic G3481A mutation, E59K. The G3890A mutation in patient 1 is the first identified mutation in MTND1 in association with LS and complex I deficiency. The findings in this patient as well as in patient 2 demonstrate new clinical expressions of mutations in MTND1. The findings in patient 2 also illustrates that MTND mutations may be pathogenic even at a low percentage.
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| 23. |
- Moslemi, Ali-Reza, et al.
(author)
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Two new mutations in the MTATP6 gene associated with Leigh syndrome.
- 2005
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In: Neuropediatrics. - : Georg Thieme Verlag KG. - 0174-304X .- 1439-1899. ; 36:5, s. 314-8
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Journal article (peer-reviewed)abstract
- In this study we have analyzed the mtDNA encoded ATPase 6 and 8 genes ( MTATP6 and MTATP8) in two children with Leigh syndrome (LS) and reduced Mg (2+) ATPase activity in muscle mitochondria. In patient 1, with a mild and reversible phenotype, mutational analysis revealed a heteroplasmic T --> C mutation at nt position 9185 (T9185C) in the MTATP6. The mutation resulted in substitution of a highly conserved leucine to proline at codon 220. The proportion of the mutation was > 97 % in the patient's blood and muscle and 85 % in blood of his asymptomatic mother. Patient 2, with severe clinical phenotype and death at 2 years of age, exhibited a novel heteroplasmic T9191C missense mutation in the MTATP6, which converted a highly conserved leucine to a proline at position 222 of the polypeptide. The proportion of the mutation was 90 % in fibroblasts and 94 % muscle tissue. This mutation was absent in the patient's parents and sister suggesting that the mutation was de novo. Our findings expand the spectrum of mutations causing LS and emphasize the role of MTATP6 gene mutations in pathogenesis of LS.
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| 24. |
- Nilsson, Gill, et al.
(author)
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Prevalence of Febrile Seizures, Epilepsy, and Other Paroxysmal Attacks in a Swedish Cohort of 4-Year-Old Children.
- 2016
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In: Neuropediatrics. - : Georg Thieme Verlag KG. - 1439-1899 .- 0174-304X. ; 47:6, s. 368-373
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Journal article (peer-reviewed)abstract
- A questionnaire about any type of seizures was distributed to parents at the children's 4-year health surveillance at Child Healthcare Centers in Gothenburg, Sweden, to analyze the prevalence of febrile seizures (FS), epilepsy, and other paroxysmal attacks. Parents who reported any kind of seizures in their child were subsequently contacted by telephone to confirm the information given and to invite the child to a clinical assessment. In addition, hospital registers and individual records were checked of the appropriate age group as regards a diagnosis of epilepsy or febrile seizures. Parents of 4,290 of 6,076 eligible children (71%) completed the questionnaire. For 252 children (5.9%), any type of paroxysmal attack was reported: FS in 157/4,290 children (3.7%), epilepsy in 22/4,290 (0.5%), and other paroxysmal attacks in 75/4,290 (1.7%). Epilepsy developed in 4 out of 157 (2.5%) children with FS before their fifth birthday. This population-based study, covering all types of paroxysmal attacks in preschool children revealed a total prevalence of nearly 6%, the largest group being FS. The total rate of paroxysmal attacks in preschool children is equal to the rate of developmental/neuropsychiatric disorders in this age group. The conditions constitute a large group in pediatrics and entail considerable concern among parents.
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| 25. |
- Palmér, Lars, et al.
(author)
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Aicardi syndrome: presentation at onset in Swedish children born in 1975-2002
- 2006
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In: Neuropediatrics. - : Georg Thieme Verlag KG. - 0174-304X .- 1439-1899. ; 37:3, s. 154-8
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Journal article (peer-reviewed)abstract
- In a nation-wide survey of Aicardi syndrome, defined as the onset of epilepsy in the first six months of life, agenesis of the corpus callosum (partial or total) and lacunar chorioretinopathy, 18 patients, all girls, born between 1975 and 2002 were identified in Sweden. Fifteen were definite cases and three were regarded as probable, since they only fulfilled two of three inclusion criteria in addition to other cerebral malformations and/or chorioretinal changes. Calculations based on this survey and population-based studies on epilepsy in retarded children yielded a prevalence rate in the range of 2 - 15 : 100 000 girls. All but one had an ordinary birth weight, length and head circumference for gestational age. One was born preterm, one post term. The age at diagnosis varied from three days to 12 years and decreased during the period reflecting the increased awareness of the syndrome. Eleven came to medical attention because of seizures. Six had myoclonic, four generalized tonic-clonic and eight tonic, clonic or complex partial seizures. One had hypsarrhythmia, five multifocal epileptiform activity, three bilateral independent bursts, two burst-suppression pattern, six other types of spikes and one slowing of background activity. Asymmetrical EEG abnormalities indicating independent hemispheric dysfunction were detected in 13/18 (72 %). Complete absence of the corpus callosum was found in 13/18 (72 %), although not identical with the previous group, a partial defect in 3/18 (17 %), and a thinning in 2/18 (11 %). Of 15 children with definite Aicardi syndrome, 13 had binocular and two monocular lacunae. In one of the latter two, subtle monocular lacunae were found on fundus photographs, but had been missed on repeated clinical examinations. Of three children with probable Aicardi syndrome typical lacunae were reported in one and other kinds of depigmentation in the other two. Most of the children had anomalous optic discs. Neuroimaging in infancy or early childhood combined with ophthalmological examination and ocular fundus photography will facilitate an early diagnosis of Aicardi syndrome. Seizure type and EEG abnormalities may be non-specific at onset.
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