| 1. |
- Conradi, Nils, 1950, et al.
(författare)
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First-trimester diagnosis of juvenile neuronal ceroid lipofuscinosis by demonstration of fingerprint inclusions in chorionic villi.
- 1989
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Ingår i: Prenatal diagnosis. - 0197-3851. ; 9:4, s. 283-7
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Tidskriftsartikel (refereegranskat)abstract
- One of the most common hereditary, progressive encephalopathies in children--juvenile neuronal ceroid lipofuscinosis (NCL)--lacks methods for carrier detection and prenatal diagnosis. A transcervical chorionic villus biopsy was performed at 9 completed weeks in a fetus at high risk of this disease. The syncytiotrophoblast of the chorionic villi contained fingerprint inclusions similar to those observed in various cells from children with this disease. Together with previous reports of second-trimester diagnosis in a case with late-infantile NCL (MacLeod et al., 1984, 1985), the presence of typical inclusions in placental tissue sampled at term in the infantile NCL (Rapola et al., 1987) and the lack of pathological alterations in one fetus at high risk of juvenile NCL and without clinical and morphological signs of disease at the age of 15 months (Kohlschutter et al., 1989), our findings strongly indicate that an early prenatal diagnosis of (juvenile) NCL is possible.
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| 2. |
- Fernell, Elisabeth, 1948, et al.
(författare)
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Overt hydrocephalus at birth--origin and outcome.
- 1987
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Ingår i: Child's Nervous System. - 0256-7040. ; 3:6, s. 350-353
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Tidskriftsartikel (refereegranskat)abstract
- Based on a survey of the population, which included 202 infants with infantile hydrocephalus those who had had overt hydrocephalus at birth were selected and analyzed with respect to origin and outcome. The present series consisted of 47 infants (23% of the total series), 83% of whom were born at term and 17% before term. In the study period 1967-1982, the prevalence was 0.12/1,000 births. Among infants with maldevelopment of the CNS and/or other organs, the mortality before 2 years of age was 37%, and among the survivors the rate of neurological sequelae was 88%. The corresponding figures for infants with uncomplicated hydrocephalus, i.e., without other maldevelopment, was 20% and 44%, respectively. The prognosis was especially poor for infants born before term. It was concluded that the prognosis was largely determined by maldevelopment affecting the CNS macro- or microarchitecture.
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| 3. |
- Uvebrant, Paul, 1951
(författare)
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Hemiplegic cerebral palsy. Aetiology and outcome.
- 1988
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Ingår i: Acta paediatrica Scandinavica. Supplement. - 0300-8843. ; 345, s. 1-100
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Tidskriftsartikel (refereegranskat)abstract
- Hemiplegic cerebral palsy (CP) was studied in a retrospective population-based series of 169 cases from the South-western Swedish health care region covering the birth years 1969-78. The purpose was to analyse the prevalence, aetiology and neuro-developmental outcome in children born preterm and at term, and to correlate pathogenetic periods, aetiological factors and clinical parameters to neuroradiology. The prevalence at the ages 6-15 years was 0.66 per 1000. Postnatally acquired hemiplegia, mainly postinfectious, iatrogenic or posttraumatic, constituted 11%. Among term children with congenital hemiplegia (pre and perinatally derived) the aetiology was considered prenatal, mainly circulatory brain lesions and maldevelopments, in 42%, combined pre and perinatal in 9%, perinatal (cerebral haemorrhage, hypoxia) in 16% and untraceable in 34%. The corresponding distribution among preterm children was 29%, 47%, 25% and 6%, respectively. The rate of preterm birth among congenital cases was 24%. Birth asphyxia was shown to be a poor indicator of pathogenetic period, whereas a cascade of postpartum complications suggested perinatal brain damage. Clinical follow-up of 152 children revealed that 50% had mild, 31% moderate and 19% severe motor dysfunction. Stereognostic sense was impaired in 44% of the children (astereognosia in 20%). Additional impairments (mental retardation, epilepsy, impaired vision, hearing and speech, severe behavioural/perceptual problems) were present in 42%. Term children with congenital hemiplegia tended to be more severely affected than preterm children. The resulting total handicap was considered mild in 40%, moderate in 44% and severe in 16%. The prevalence of severe total handicap was highest among postnatal cases. Computerised tomography (CT), performed in 109 congenital cases, was normal in 26%, showed unilateral ventricular enlargement in 36% and revealed cortical/subcortical cavities in 20%. In the remaining 18% CT findings were classified as "other". With the classification so far used, correlations between CT findings and aetiologies were unsatisfactory and disappointing. In contrast, CT findings showed a strong correlation with clinical degree of severity and magnitude of associated handicap. As a rule, normal CT implied mild disability and unilateral ventricular enlargement moderate, whereas cortical/subcortical cavities were frequently associated with severe handicap, including mental retardation and epilepsy.
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| 4. |
- Uvebrant, Paul, 1951
(författare)
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Sanfilippo type C syndrome in two sisters.
- 1985
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Ingår i: Acta paediatrica Scandinavica. - 0001-656X. ; 74:1, s. 137-9
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Tidskriftsartikel (refereegranskat)abstract
- Two sisters are described with mucopolysaccharidosis (MPS) Sanfilippo type C syndrome. This diagnosis is emphasized to be easily overlooked due to subtile clinical and radiological deviations, but should be considered in any case of unspecific progressive mental retardation, especially when sleep disturbance, aggressivity and hyperactivity are prominent symptoms.
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