| 1. |
- Alhusani, A, et al.
(författare)
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Adenosine Kinase Deficiency: Report and Review
- 2019
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Ingår i: Neuropediatrics. - : Georg Thieme Verlag KG. - 1439-1899 .- 0174-304X. ; 50:1, s. 46-50
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Tidskriftsartikel (refereegranskat)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.
(författare)
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Bone marrow transplantation in aspartylglucosaminuria : histopathological and MRI study
- 1999
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Ingår i: Neuropediatrics. - : Georg Thieme Verlag KG. - 0174-304X .- 1439-1899. ; 30:6, s. 283-8
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Tidskriftsartikel (refereegranskat)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.
(författare)
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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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Ingår i: Neuropediatrics. - : Georg Thieme Verlag KG. - 0174-304X .- 1439-1899. ; 25:6, s. 316-22
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Tidskriftsartikel (refereegranskat)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.
(författare)
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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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Ingår i: Neuropediatrics. - : Georg Thieme Verlag KG. - 0174-304X .- 1439-1899. ; 19:3, s. 135-142
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Tidskriftsartikel (refereegranskat)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.
(författare)
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Epidemiology of infantile hydrocephalus in Sweden. Current aspects of the outcome in preterm infants.
- 1988
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Ingår i: Neuropediatrics. - : Georg Thieme Verlag KG. - 0174-304X .- 1439-1899. ; 19:3, s. 143-145
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Tidskriftsartikel (refereegranskat)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.
(författare)
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Childhood psychosis in a case of Moebius syndrome.
- 1984
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Ingår i: Neuropediatrics. - : Georg Thieme Verlag KG. - 0174-304X .- 1439-1899. ; 15:3, s. 147-149
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Tidskriftsartikel (refereegranskat)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.
(författare)
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Epilepsy presenting as infantile autism? Two case studies.
- 1983
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Ingår i: Neuropediatrics. - : Georg Thieme Verlag KG. - 0174-304X .- 1439-1899. ; 14:4, s. 206-212
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Tidskriftsartikel (refereegranskat)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.
(författare)
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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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Ingår i: Neuropediatrics. - : Georg Thieme Verlag KG. - 0174-304X .- 1439-1899. ; 19:1, s. 16-23
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Tidskriftsartikel (refereegranskat)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.
(författare)
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Cerebral function monitoring during the first week of life in extremely small low birthweight (ESLBW) infants
- 1991
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Ingår i: Neuropediatrics. - 0174-304X. ; 22:1, s. 27-32
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Tidskriftsartikel (refereegranskat)abstract
- In order to evaluate the usefulness of early continuous EEG-monitoring in very preterm neonates, recordings with a Cerebral Function Monitor (CFM) were made prospectively in 31 ESLBW infants with birthweights below 901 grams, during their first week of life. The CFM background activity was, as expected from EEG studies, dominated by a suppression-burst pattern in 94% of the infants. Some infants had periods with more continuous EEG activity or suppression-burst changing into continuous. Patterns similar to sleep-wake cycling (SWC) were identified in infants with gestational ages as low as 24 weeks. The level of the CFM-background activity was mainly influenced by the presence and severity of intracranial hemorrhage (ICH), but also by medications such as phenobarbital. Epileptiform activity (EPA) was only found in infants with ICH, and was identified in 75% of these infants. Of the infants with EPA, 87% had periods with subclinical EPA, although 47% had both clinical and subclinical seizures. The presence of more continuous activity and SWC were indicators of a favourable outcome, whereas electrocerebral inactivity predicted an unfavorable outcome. The prognostic estimates of mortality and neurologic outcome were similar for early CFM recording (positive predictive value 69-100%) and cranial ultrasound scan (positive predictive value 71-100%). The monitoring of cerebral electrical activity also provided immediate and clinically useful information during the intensive care of these ESLBW infants. Further studies on the causal relation between EPA and the development of ICH should be performed before definite conclusions can be drawn concerning any preventive effect from anticonvulsive treatment of clinical/subclinical seizures.
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