Valerie Meersschaut

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Leber Congenital Amaurosis (LCA), the most severe inherited retinal dystrophy, is genetically heterogeneous, with 14 genes accounting for 70% of patients. Here, 91 LCA probands underwent LCA chip analysis and subsequent sequencing of 6 genes (CEP290, CRB1, RPE65, GUCY2D, AIPL1and CRX), revealing mutations in 69% of the cohort, with major involvement of(More)
An additional clinicohistopathological observation of neonatal pulmonary interstitial glycogenosis is described, confirming the findings in the original description by Canakis and coworkers [1]. The most striking finding is the presence of glycogen-laden cells within the interstitium of the lung. The outcome is favourable relative to other chronic(More)
This is the first report of a patient with aminoacylase I deficiency. High amounts of N-acetylated amino acids were detected by gas chromatography-mass spectrometry in the urine, including the derivatives of serine, glutamic acid, alanine, methionine, glycine, and smaller amounts of threonine, leucine, valine, and isoleucine. NMR spectroscopy confirmed(More)
We report on a patient with mental retardation, seizures and tall stature with advanced bone age in whom a de novo apparently balanced chromosomal rearrangement 46,XX,t(X;9)(q12;p13.3) was identified. Using array CGH on flow-sorted derivative chromosomes (array painting) and subsequent FISH and qPCR analysis, we mapped and sequenced both breakpoints. The(More)
A case of lower gastrointestinal hemorrhage in a child caused by an arteriovenous malformation (AVM) of the colon is presented. On diagnostic angiography, the lesion was misinterpretated as an idiopathic colonic varicosis because none of the characteristic features of an AVM were present. The role of angiography and shortcomings in nomenclature and(More)
The aims of this study are to describe normal colon transit time (CTT) in healthy children, correlate results with age, the Bristol stool scale, and stool frequency, and to evaluate intra- and interobserver variability. Inclusion criteria were as follows: healthy children between 3 and 18 years old with a normal defecation pattern, no history of abdominal(More)
INTRODUCTION Patients with open spinal dysraphism (OSD) frequently present constipation and incontinence requiring treatment. AIM Evaluation of colon transit time (CTT) in patients with OSD, in relation to neural lesion, mobility, bowel habits, and continence status. METHODS OSD patients aged between 6 and 20 years, who did not use antegrade enemas,(More)
We report the CT and MRI findings of congenital bilateral plexiform neurofibromas of the cavernous sinuses in a 2-month-old girl. Contrast-enhanced CT showed enhancement of masses in both cavernous sinuses and enlargement of both superior orbital fissures. On MRI the masses were isointense with muscle on T1-weighted images, hypointense on T2-weighted(More)