Maarten H. Lequin

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Cerebral palsy due to perinatal injury to cerebral white matter is usually not caused by genetic mutations, but by ischemia and/or inflammation. Here, we describe an autosomal-recessive type of tetraplegic cerebral palsy with mental retardation, reduction of cerebral white matter, and atrophy of the cerebellum in an inbred sibship. The phenotype was(More)
BACKGROUND Previous research showed acute diffusion-weighted imaging changes in pulvinar after extensive cortical injury from neonatal stroke. The authors used diffusion tensor imaging (DTI) to see how separate regions of ipsilateral thalamus are directly affected after a primary hit to their connected cortex in neonatal stroke. METHODS The authors(More)
Polymicrogyria is a malformation of the developing cerebral cortex caused by abnormal organization and characterized by many small gyri and fusion of the outer molecular layer. We have identified autosomal-recessive mutations in RTTN, encoding Rotatin, in individuals with bilateral diffuse polymicrogyria from two separate families. Rotatin determines early(More)
The cerebral ventricular system is a marker of brain development and a predictor of neurodevelopmental outcome. In premature or dysmature neonates, neuroanatomical structures including the ventricular system appear to be altered. The present study aims to provide information on the association between foetal growth and neonatal cerebral ventricular size in(More)
PURPOSE To retrospectively compare thin-section computed tomographic (CT) scores obtained with five scoring systems for assessment of pulmonary disease in children with cystic fibrosis and to determine additional value of bronchial and arterial dimension measurements. MATERIALS AND METHODS Scores obtained with five thin-section CT scoring systems were(More)
BACKGROUND Cardiac defects can be the presenting symptom in patients with mutations in the X-linked gene FLNA. Dysfunction of this gene is associated with cardiac abnormalities, especially in the left ventricular outflow tract, but can also cause a congenital malformation of the cerebral cortex. We noticed that some patients diagnosed at the neurogenetics(More)
BACKGROUND Six term newborns presented with apnoea and temporal lobe haemorrhage. AIM In this observational study, we described involvement of the limbic system in apnoeic term newborns with temporal lobe injury. METHODS Six term newborns presented to the neonatal care unit with apnoea within the first 2 days of life. Ultrasound (US) and MRI of the(More)
INTRODUCTION No evidence based treatment is available for atelectasis. We aimed to evaluate the clinical and radiologic changes in pediatric patients who received DNase for persistent atelectasis that could not be attributed to cardiovascular causes, and who were unresponsive to treatment with inhaled bronchodilators and physiotherapy. METHODS All(More)
Mutations in the ARX gene, at Xp22.3, cause several disorders, including infantile spasms, X-linked lissencephaly with abnormal genitalia (XLAG), callosal agenesis and isolated intellectual disability. Genotype/phenotype studies suggested that polyalanine tract expansion is associated with non-malformative phenotypes, while missense and nonsense mutations(More)
BACKGROUND Cerebral MRI performed on preterm infants at term-equivalent 30 weeks' gestational age (GA) is increasingly performed as part of standard clinical care. OBJECTIVE We evaluated safety of these early MRI procedures. MATERIALS AND METHODS We retrospectively collected data on patient safety of preterm infants who underwent early MRI scans. Data(More)