Wolumetryczne badania struktur mózgowia metodą rezonansu magnetycznego u dzieci z zespołem Downa

Background and purpose Down syndrome (DS) is the most common genetic cause of mental retardation with deficits in language and memory. Mental retardation of varying degrees is the most consistent feature of DS. The objective of this study was to use high-resolution magnetic resonance imaging (MRI) techniques to investigate the volumes of the hippocampus, amygdala, and temporal and frontal lobes in children with DS compared with healthy children. Material and methods MRI of 49 patients was reviewed prospectively. The study included 23 children with DS (9 girls and 14 boys, mean age 6.7 ± 3.7 years) and 26 healthy children (11 girls and 15 boys, mean age 8.3 ± 2.4 years). Volumes of the right and left hippocampus, the right and left amygdala, temporal and frontal lobes and the total brain volume were measured by a radiologist who was unaware of the diagnosis. Results Total brain volume in children with DS was significantly lower compared with controls. It was associated with significantly lower volume of the frontal and temporal lobes. Children with DS had a significantly smaller right and left hippocampus volume and a significantly smaller right and left amygdala volume than did the control group. We also found a negative correlation between mental retardation and volume of the right hippocampus. Conclusions The presence of these abnormalities from an early age contributes to the specific cognitive and developmental deficits seen in children with DS.Wstęp i cel pracy Zespół Downa (ZD) jest najczęstszą genetyczną przyczyną upośledzenia umysłowego, deficytów mowy i pamięci. Upośledzenie umysłowe różnego stopnia to najbardziej stała cecha zespołu Downa. Celem pracy było wykorzystanie techniki badania rezonansu magnetycznego (RM) wysokiej rozdzielczości do porównania objętości hipokampów, ciał migdałowatych, płatów skroniowych i czołowych dzieci z ZD w porównaniu z dziećmi zdrowymi. Materiał i metody Ocenie poddano 49 badań RM. Badaniem objęto 23 dzieci z ZD (9 dziewczynek i 14 chłopców, średnia wieku: 6,7 ± 3,7 roku). Grupę kontrolną stanowiło 26 dzieci zdrowych (11 dziewczynek i 15 chłopców, średnia wieku: 8,3 ± 2,4 roku). Objętość prawego i lewego hipokampa, prawego i lewego ciała migdałowatego, płatów skroniowych i czołowych oraz całkowita objętość mózgu były mierzone manualnie przez radiologa nieznającego rozpoznania. Wyniki Całkowita objętość mózgu w grupie dzieci z ZD była istotnie mniejsza w porównaniu z grupą kontrolną. Wiązało się to z istotnie mniejszą objętością płatów czołowych i skroniowych. Grupa dzieci z ZD miała istotnie mniejszą objętość prawego i lewego hipokampa oraz prawego i lewego ciała migdałowatego w porównaniu z dziećmi zdrowymi. Wykazano jednocześnie ujemną korelację pomiędzy stopniem upośledzenia umysłowego a objętością prawego hipokampa. Wnioski Obecność opisanych zaburzeń od najmłodszych lat przyczynia się do konkretnych deficytów poznawczych i rozwojowych u dzieci z ZD

A Comparison of Spastic Diplegic and Tetraplegic Cerebral Palsy

The aim of this study was to compare spastic diplegic and tetraplegic cerebral palsy. Thirty-eight children had spastic diplegic cerebral palsy and 48 spastic tetraplegic cerebral palsy. Risk factors of cerebral palsy, seizures, severity of cerebral palsy, electroencephalogram, and magnetic resonance imaging findings were analyzed. Gestational history, low birth weight, and perinatal pathologies were present in similar percentages in both groups. Lower values of the Apgar score were recorded more often in the tetraplegic cerebral palsy group than the diplegic group. The children with spastic diplegia were classified more frequently into levels I and II of the Gross Motor Function Classification System, but patients with spastic tetraplegia were classified more frequently into levels IV and V. Similarly, mental retardation was observed more frequently in the patients with spastic tetraplegia. In magnetic resonance imaging, periventricular leukomalacia was detected in a higher proportion of children with spastic diplegia than in patients with tetraplegia. Cerebral atrophy occurred more frequently in the tetraplegic group compared with diplegic patients. Twenty-four (50.0%) children with spastic tetraplegia had epilepsy compared with six children with spastic diplegia. The incidence of intractable epilepsy was higher in the tetraplegic patients than in the children with spastic diplegia. © 2005 by Elsevier Inc. AU rights reserved

Cerebral palsy in children in north-eastern Poland

The aim of this study was to identify antenatal, intrapartum and neonatal risk factors for cerebral palsy (CP) among babies. Antenatal, intrapartum, and neonatal events were compared between 204 children with CP born between 1983 to 2000 and 206 controls, children matched by birth weight, gestational age, and sex via a retrospective case-control method. Antenatal, intrapartum and neonatal factors were expressed as odds ratios and 95% confidence intervals. Multiple logistic regression was conducted, entering only those variables found to be significant at the bivariate level. Factors associated with an increased risk of CP identified as antenatal and intrapartum risk factors were abruptio placenta, pre-labour rupture of membranes, prematurity, preterm labour, cesarean section and low birth weight (<2500 gram). Respiratory distress syndrome, prolonged ventilation, septicemia, meningitis, hyperbilirubinemia, neonatal seizures, and severe cranial ultrasound abnormality were associated with an increased risk of CP in the neonatal period. In the logistic regression models prematurity and Apgar scores < 4 at 1st min were significantly associated with an increased risk of CP. Several antenatal, intrapartum and neonatal risk factors for CP among preterm and term babies are responsible for the etiology of CP. Our findings are in agreement with reports from Western countries. (J Pediatr Neurol 2004; 2(2): 79-84)

Antiepileptic drugs as a new therapeutic concept for the prevention of cognitive impairment and Alzheimer’s disease. Recent advances

Introduction. Excessive accumulation of amyloid-beta (Aβ) peptides in the brain results initially in mild cognitive impairment (MCI) and finally in Alzheimer’s disease (AD). Evidences from experimental and clinical studies show that pathological hyperexcitability of hippocampal neurons is a very early functional impairment observed in progressive memory dysfunctions. Therefore, antiepileptic drugs (AEDs) whose mechanism of action is aimed at inhibition of such neuronal hyperexcitability, seems to be an rationale choice for MCI and AD treatment

Ultrastructural study of hippocampal cortex neurons in an experimental model of valproate encephalopathy

Valproate (VPA) is a widely used antiepileptic drug. A serious neurological-outcome defined as valproate encephalopathy (VE) may rarely occur during VPA therapy. Structural abnormalities within neurons are postulated as one of the reasons for VE. The aim of this study was to assess the ultrastructure of neurons in the hippocampal cortex during the course of chronic application of VPA to rats. VPA was chronically administered to rats, intragastrically, once daily at a dose of 200 mg/kg b.w. for 1, 3, 6, 9 and 12 months. The samples of hippocampal cortex, after routine laboratory preparation, were examined by electron microscopy. The drug induced pronounced ultrastructural changes in the population of pyramidal neurons within the hippocampal cortex after 9 and 12 months of VPA administration. The most expressed abnormalities were observed within the mitochondria and manifested by fragmentation of crests and almost complete disappearance of intramitochondrial granules. Mitochondria of numerous neurons resembled large vacuolar structures. Widening, shortening and irregular distribution of rough endoplasmic reticulum was also found. A characteristic feature of damaged neurocytes in the last two phases of the experiment was the disintegration of nuclear chromatin and the presence of numerous lipofuscin deposits within hyaloplasm. These cells assumed the look of “dark neurons” and presented the ultrastructural features of apoptosis and necrosis. Our results indicate that long-term VPA administration to rats leads to aponecrosis of hippocampal neurons. (Folia Histochemica et Cytobiologica 2013, Vol. 51, No. 1, 31–37

Wewnątrzrodzinna zmienność fenotypu i rozwoju intelektualnego w zespole Pfeiffera wywołana mutacją p.P252R w genie FGFR1

Pfeiffer Syndrome (OMIM#101600) is a genetic disorder which belongs to cranio-facial dysostosis group inherited in an autosomal dominant pattern with variation of feature expression. It affects about 1 in 100,000 live-births. Typical features include: premature fusion of certain bones of the skull (craniosynostosis), maxillary hypoplasia and digital abnormalities of the hands and feet. Basing on the phenotype three clinical subtypes of Pfeiffer Syndrome can be distinguished: types 1, 2 and 3. This condition can be caused by heterozygous mutations in either fibroblast growth factor receptor gene type 1 or 2 (FGFR1 or FGFR2). FGFR1 mutations often result in less severe craniofacial involvement, no craniosynostosis, abnormalities of the limbs and most individuals have normal intelligence. The authors describe the family of three members (a son, a father and a daughter) variably affected by phenotype and intellectual development with Pfeiffer Syndrome type 1 caused by p.P252R mutation in FGFR1 gene. We showed that in investigating mental retardation the medical examination of the whole family and genetic counseling are important.Zespół Pfeiffera (OMIM#101600) jest rzadkim zespołem uwarunkowanym genetycznie zaliczanym do dysostoz czaszkowo- -twarzowych, który dziedziczy się w sposób autosomalnie dominujący ze zmienną ekspresją cech klinicznych. Występuje z częstością około 1:100 000 wśród żywo urodzonych dzieci. Typowe objawy zespołu obejmują: przedwczesne zarastanie szwów czaszkowych (kraniosynostoza), hipoplazja szczęki oraz wady dłoni i stop. Objawy zespołu Pfeiffera wywołują heterozygotyczne mutacje w genach czynnika wzrostu fibroblastów typu 1 lub 2 (fibroblast growth factor receptor gene type 1 or 2 – FGFR1 lub FGFR2). Mutacje występujące w genie FGFR1 skutkują mniej nasilonymi objawami fenotypowymi twarzoczaszki, wadami kończyn i najczęściej prawidłowym rozwojem intelektualnym. W niniejszej pracy autorzy przedstawiają trzy przypadki z jednej rodzinny (syn, ojciec i córka) prezentujące dużą zmienność objawów fenotypowych i intelektualnych w przebiegu zespołu Pfeiffera typu 1 wywołanego mutacją p.P252R w genie FGFR1. Autorzy zwracają uwagą na celowość wykonywania badań rodzinnych w kontekście diagnostyki niepełnosprawności intelektualnej i poradnictwa genetycznego