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1. Atypical neuroimaging characteristics of hemophagocytic lymphohistiocytosis in infants: a case series of hemorrhagic brain lesions in the deep grey matter

Author

Pak, Neda, Selehnia, A, Hunfeld, Maayke, Lequin, MH, Neuteboom, Rinze, Vries, ACH, Kroon, André, Dremmen, Marjolein, Pak, Neda, Selehnia, A, Hunfeld, Maayke, Lequin, MH, Neuteboom, Rinze, Vries, ACH, Kroon, André, and Dremmen, Marjolein

Abstract

Hemophagocytic lymphohistiocytosis (HLH) is a rare multisystem condition associated with uncontrolled overproduction and infiltration of lymphocytes and histiocytes predominantly in liver, lymph nodes, spleen, and central nervous system. Neuroimaging findings on MRI are fairly nonspecific and classically include periventricular white matter signal abnormalities and diffuse atrophy. Focal parenchymal lesions may demonstrate post contrast ring or nodular enhancement and calcification. However, the MR imaging characteristics can be highly variable. Here, we present two cases of HLH in infants with multiple hemorrhagic lesions mostly depicted in both thalami and basal ganglia regions. Thalamic, basal ganglia, and brain stem involvement with hemorrhagic changes in HLH are rarely described in literature. Early diagnosis of HLH may be lifesaving. Awareness of the disease is necessary to investigate its characteristic findings and avoiding a delay in diagnosis.

Published
2021

2. Definitions and classification of malformations of cortical development: practical guidelines

Author

Severino, M, Geraldo, AF, Utz, N, Tortora, D, Pogledic, I, Klonowski, W, Triulzi, F, Arrigoni, F, Mankad, K, Leventer, RJ, Mancini, GMS, Barkovich, JA, Lequin, MH, Rossi, A, Severino, M, Geraldo, AF, Utz, N, Tortora, D, Pogledic, I, Klonowski, W, Triulzi, F, Arrigoni, F, Mankad, K, Leventer, RJ, Mancini, GMS, Barkovich, JA, Lequin, MH, and Rossi, A

Abstract

Malformations of cortical development are a group of rare disorders commonly manifesting with developmental delay, cerebral palsy or seizures. The neurological outcome is extremely variable depending on the type, extent and severity of the malformation and the involved genetic pathways of brain development. Neuroimaging plays an essential role in the diagnosis of these malformations, but several issues regarding malformations of cortical development definitions and classification remain unclear. The purpose of this consensus statement is to provide standardized malformations of cortical development terminology and classification for neuroradiological pattern interpretation. A committee of international experts in paediatric neuroradiology prepared systematic literature reviews and formulated neuroimaging recommendations in collaboration with geneticists, paediatric neurologists and pathologists during consensus meetings in the context of the European Network Neuro-MIG initiative on Brain Malformations (https://www.neuro-mig.org/). Malformations of cortical development neuroimaging features and practical recommendations are provided to aid both expert and non-expert radiologists and neurologists who may encounter patients with malformations of cortical development in their practice, with the aim of improving malformations of cortical development diagnosis and imaging interpretation worldwide.

Published
2020

4. EML1-associated brain overgrowth syndrome with ribbon-like heterotopia

Author

Oegema, R, McGillivray, G, Leventer, R, Le Moing, A-G, Bahi-Buisson, N, Barnicoat, A, Mandelstam, S, Francis, D, Francis, F, Mancini, GMS, Savelberg, S, van Haaften, G, Mankad, K, Lequin, MH, Oegema, R, McGillivray, G, Leventer, R, Le Moing, A-G, Bahi-Buisson, N, Barnicoat, A, Mandelstam, S, Francis, D, Francis, F, Mancini, GMS, Savelberg, S, van Haaften, G, Mankad, K, and Lequin, MH

Abstract

EML1 encodes the protein Echinoderm microtubule-associated protein-like 1 or EMAP-1 that binds to the microtubule complex. Mutations in this gene resulting in complex brain malformations have only recently been published with limited clinical descriptions. We provide further clinical and imaging details on three previously published families, and describe two novel unrelated individuals with a homozygous partial EML1 deletion and a homozygous missense variant c.760G>A, p.(Val254Met), respectively. From review of the clinical and imaging data of eight individuals from five families with biallelic EML1 variants, a very consistent imaging phenotype emerges. The clinical syndrome is characterized by mainly neurological features including severe developmental delay, drug-resistant seizures and visual impairment. On brain imaging there is megalencephaly with a characteristic ribbon-like subcortical heterotopia combined with partial or complete callosal agenesis and an overlying polymicrogyria-like cortical malformation. Several of its features can be recognized on prenatal imaging especially the abnormaly formed lateral ventricles, hydrocephalus (in half of the cases) and suspicion of a neuronal migration disorder. In conclusion, biallelic EML1 disease-causing variants cause a highly specific pattern of congenital brain malformations, severe developmental delay, seizures and visual impairment.

Published
2019

5. MRI changes in time after cranial irradiation, and their relation with pituitary function in survivors of childhood medulloblastoma

Author

Endocrinologie patientenzorg, Child Health, MS Radiologie, Circulatory Health, MS Radiotherapie, Cancer, ZL Kinder Ner en Nec Medisch, van Ommen, CCN, van Iersel, L, Lequin, MH, Clement, SC, Janssens, GOR, Boot, Annemieke M, Caron, Huib N., Claahsen-van der Grinten, Hedi L, Granzen, Bernd, Han, KS, Michiels, Erna M., Trotsenburg, A.S., Vandertop, W. Peter, van Vuurden, Dannis G, Schouten-van Meeteren, Annetteke Y N, van Santen, HM, Kremer, L.C., Endocrinologie patientenzorg, Child Health, MS Radiologie, Circulatory Health, MS Radiotherapie, Cancer, ZL Kinder Ner en Nec Medisch, van Ommen, CCN, van Iersel, L, Lequin, MH, Clement, SC, Janssens, GOR, Boot, Annemieke M, Caron, Huib N., Claahsen-van der Grinten, Hedi L, Granzen, Bernd, Han, KS, Michiels, Erna M., Trotsenburg, A.S., Vandertop, W. Peter, van Vuurden, Dannis G, Schouten-van Meeteren, Annetteke Y N, van Santen, HM, and Kremer, L.C.

Published
2018

10. Human mutations in integrator complex subunits link transcriptome integrity to brain development

Author

Oegema, Renske, Baillat, D, Schot, Rachel, Unen, Leontine, Brooks, Alice, Kheradmand Kia, Sima, Hoogeboom, Jeannette, Xia, Z, Li, W, Cesaroni, M, Lequin, MH, van Slegtenhorst, Marjon, Dobyns, WB, Coo, IFM, Verheijen, Frans, Kremer, Andreas, van der Spek, Peter, Heijsman, Daphne, Wagner, EJ, Fornerod, M.W.J., Verheijen - Mancini, Grazia, Oegema, Renske, Baillat, D, Schot, Rachel, Unen, Leontine, Brooks, Alice, Kheradmand Kia, Sima, Hoogeboom, Jeannette, Xia, Z, Li, W, Cesaroni, M, Lequin, MH, van Slegtenhorst, Marjon, Dobyns, WB, Coo, IFM, Verheijen, Frans, Kremer, Andreas, van der Spek, Peter, Heijsman, Daphne, Wagner, EJ, Fornerod, M.W.J., and Verheijen - Mancini, Grazia

Published
2017

11. Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TOR CH syndrome

Author

Meuwissen, Marije, Schot, Rachel, Buta, S, Oudesluijs, Grietje, Tinschert, S, Speer, SD, Li, Z, Unen, Leontine, Heijsman, Daphne, Goldmann, T, Lequin, MH, Kros, J.M., Stam, W (Wendy), Hermann, M, Willemsen, Rob, Brouwer, Rutger, van Ijcken, Wilfred, Martin-Fernandez, M, Coo, IFM, Dudink, J, Vries, Femke, Bertoli Avella, AM, Prinz, M, Crow, YJ, Verheijen, Frans, Pellegrini, S, Bogunovic, D, Verheijen - Mancini, Grazia, Meuwissen, Marije, Schot, Rachel, Buta, S, Oudesluijs, Grietje, Tinschert, S, Speer, SD, Li, Z, Unen, Leontine, Heijsman, Daphne, Goldmann, T, Lequin, MH, Kros, J.M., Stam, W (Wendy), Hermann, M, Willemsen, Rob, Brouwer, Rutger, van Ijcken, Wilfred, Martin-Fernandez, M, Coo, IFM, Dudink, J, Vries, Femke, Bertoli Avella, AM, Prinz, M, Crow, YJ, Verheijen, Frans, Pellegrini, S, Bogunovic, D, and Verheijen - Mancini, Grazia

Published
2016

12. Long-term cognitive follow-up in children treated for Maroteaux-Lamy syndrome

Author

Ebbink, Johanneke, Brands, Marion, van den Hout, Hannerieke, Lequin, MH, Coebergh van den Braak, Robert, Weitgraven, Rianne, Plug, Iris, Aarsen, Femke, van der Ploeg, Ans, Ebbink, Johanneke, Brands, Marion, van den Hout, Hannerieke, Lequin, MH, Coebergh van den Braak, Robert, Weitgraven, Rianne, Plug, Iris, Aarsen, Femke, and van der Ploeg, Ans

Published
2016

14. High resolution MRI for preoperative work-up of neonates with an anorectal malformation: a direct comparison with distal pressure colostography/fistulography

Author

Thomeer, Maarten, Devos, Annick, Lequin, MH, Graaf, Nanko, Meeussen, C, Meradji, Morteza, Blaauw, Ivo, Sloots, C, Thomeer, Maarten, Devos, Annick, Lequin, MH, Graaf, Nanko, Meeussen, C, Meradji, Morteza, Blaauw, Ivo, and Sloots, C

Abstract

To compare MRI and colostography/fistulography in neonates with anorectal malformations (ARM), using surgery as reference standard. Thirty-three neonates (22 boys) with ARM were included. All patients underwent both preoperative high-resolution MRI (without sedation or contrast instillation) and colostography/fistulography. The Krickenbeck classification was used to classify anorectal malformations, and the level of the rectal ending in relation to the levator muscle was evaluated. Subjects included nine patients with a bulbar recto-urethral fistula, six with a prostatic recto-urethral fistula, five with a vestibular fistula, five with a cloacal malformation, four without fistula, one with a H-type fistula, one with anal stenosis, one with a rectoperineal fistula and one with a bladderneck fistula. MRI and colostography/fistulography predicted anatomy in 88 % (29/33) and 61 % (20/33) of cases, respectively (p = 0.012). The distal end of the rectal pouch was correctly predicted in 88 % (29/33) and 67 % (22/33) of cases, respectively (p = 0.065). The length of the common channel in cloacal malformation was predicted with MRI in all (100 %, 5/5) and in 80 % of cases (4/5) with colostography/fistulography. Two bowel perforations occurred during colostography/fistulography. MRI provides the most accurate evaluation of ARM and should be considered a serious alternative to colostography/fistulography during preoperative work-up. aEuro cent High-resolution MRI is feasible without the use of sedation or anaesthesia. aEuro cent MRI is more accurate than colostography/fistulography in visualising the type of ARM. aEuro cent MRI is as reliable as colostography/fistulography in predicting the level of the rectal pouch. aEuro cent Colostography/fistulography can be complicated by bowel perforation.

Published
2015

16. Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability

Author

Twigg, SRF, Forecki, J, Goos, Jacqueline, Richardson, ICA, Hoogeboom, Jeannette, van den Ouweland, Ans, Swagemakers, Sigrid, Lequin, MH, Van Antwerp, D, McGowan, SJ, Westbury, I, Miller, KA, Wall, SA, van der Spek, Peter, Mathijssen, Irene, Pauws, E, Merzdorf, CS, Wilkie, AOM, Twigg, SRF, Forecki, J, Goos, Jacqueline, Richardson, ICA, Hoogeboom, Jeannette, van den Ouweland, Ans, Swagemakers, Sigrid, Lequin, MH, Van Antwerp, D, McGowan, SJ, Westbury, I, Miller, KA, Wall, SA, van der Spek, Peter, Mathijssen, Irene, Pauws, E, Merzdorf, CS, and Wilkie, AOM

Abstract

Human ZIC1 (zinc finger protein of cerebellum 1), one of five homologs of the Drosophila pair-rule gene odd-paired, encodes a transcription factor previously implicated in vertebrate brain development. Heterozygous deletions of ZIC1 and its nearby paralog ZIC4 on chromosome 3q25.1 are associated with Dandy-Walker malformation of the cerebellum, and loss of the orthologous Zic1 gene in the mouse causes cerebellar hypoplasia and vertebral defects. We describe individuals from five families with heterozygous mutations located in the final (third) exon of ZIC1 (encoding four nonsense and one missense change) who have a distinct phenotype in which severe craniosynostosis, specifically involving the coronal sutures, and variable learning disability are the most characteristic features. The location of the nonsense mutations predicts escape of mutant ZIC1 transcripts from nonsense-mediated decay, which was confirmed in a cell line from an affected individual. Both nonsense and missense mutations are associated with altered and/or enhanced expression of a target gene, engrailed-2, in a Xenopus embryo assay. Analysis of mouse embryos revealed a localized domain of Zic1 expression at embryonic days 11.5-12.5 in a region overlapping the supraorbital regulatory center, which patterns the coronal suture. We conclude that the human mutations uncover a previously unsuspected role for Zic1 in early cranial suture development, potentially by regulating engrailed 1, which was previously shown to be critical for positioning of the murine coronal suture. The diagnosis of a ZIC1 mutation has significant implications for prognosis and we recommend genetic testing when common causes of coronal synostosis have been excluded.

Published
2015

17. Diffusion Tensor Imaging and Fiber Tractography in Children with Craniosynostosis Syndromes

Author

Rijken, Bianca, Leemans, A, Lucas, Ymke, Montfort, Kees, Mathijssen, Irene, Lequin, MH, Rijken, Bianca, Leemans, A, Lucas, Ymke, Montfort, Kees, Mathijssen, Irene, and Lequin, MH

Abstract

BACKGROUND AND PURPOSE: Patients with craniosynostosis syndromes caused by mutations in FGFR-2, FGFR-3, and TWIST1 genes are characterized by having prematurely fused skull sutures and skull base synchondroses, which result in a skull deformity and are accompanied by brain anomalies, including altered white matter microarchitecture. In this study, the reliability and reproducibility of DTI fiber tractography was investigated in these patients. The outcomes were compared with those of controls. MATERIALS AND METHODS: DTI datasets were acquired with a 1.5T MR imaging system with 25 diffusion gradient orientations (voxel size = 1.8 x 1.8 x 3.0 mm(3), b-value = 1000 s/mm(2)). White matter tracts studied included the following: corpus callosum, cingulate gyrus, fornix, corticospinal tracts, and medial cerebellar peduncle. Tract pathways were reconstructed with ExploreDTI in 58 surgically treated patients with craniosynostosis syndromes and 7 controls (age range, 6-18 years). RESULTS: Because of the brain deformity and abnormal ventricular shape and size, DTI fiber tractography was challenging to perform in patients with craniosynostosis syndromes. To provide reliable tracts, we adapted standard tracking protocols. Fractional anisotropy was equal to that in controls (0.44 versus 0.45 +/- 0.02, P = .536), whereas mean, axial, and radial diffusivity parameters of the mean white matter were increased in patients with craniosynostosis syndromes (P < .001). No craniosynostosis syndrome-specific difference in DTI properties was seen for any of the fiber tracts studied in this work. CONCLUSIONS: Performing DTI fiber tractography in patients with craniosynostosis syndromes was difficult due to partial volume effects caused by an anisotropic voxel size and deformed brain structures. Although these patients have a normal fiber organization, increased diffusivity parameters suggest abnormal microstructural tissue properties of the investigated white matter tracts.

Published
2015

19. Cerebral ventricular volume and temperamental difficulties in infancy. The generation R study

Author

Roza, Sabine, Govaert, Paul, Lequin, MH, Jaddoe, Vincent, Moll, Henriette, Steegers, Eric, Hofman, Bert, Verhulst, Frank, Tiemeier, Henning, Psychiatry, Pediatrics, Radiology & Nuclear Medicine, Obstetrics & Gynecology, Epidemiology, and Child and Adolescent Psychiatry / Psychology

Abstract

Background: Numerous studies have provided evidence for subtle deviations in brain morphology in children with psychiatric disorders, but much less is known about the onset and developmental trajectory of these deviations early in life. We sought to determine whether variances in cerebral ventricular size in fetuses and newborns are associated with temperamental difficulties in infants. Methods: Within a population-based cohort study, we measured the size of the lateral ventricle of the fetus' brain twice during pregnancy. We used 3-dimensional cranial ultrasound to measure the cerebral ventricular volume of infants at age 6 weeks. We then related the size of the cerebral ventricular system to temperamental dimensions at age 3 months using the Mother and Baby Scales, and at age 6 months using the Infant Behavior Questionnaire for a total of 1028 infants. Results: The size of the lateral ventricle of the fetuses in mid-pregnancy was not related to temperamental difficulties in infants; however, smaller lateral ventricles in late pregnancy were associated with higher activity levels at the age of 6 months. Infants with smaller ventricular volumes at age 6 weeks experienced higher activity levels, more anger or irritability and poorer orienting later in infancy. Children with the lowest ventricular volumes scored on average 0.15 (95% confidence interval 0.06-0.23, p = 0.001) points higher (23%) on activity levels than children with the highest ventricular volumes. Conclusion: Variations in ventricular size before and shortly after birth are associated with temperamental difficulties. Some of the morphologic differences between children with and without psychiatric disorders may develop very early in life.

Published
2008

22. Safety of routine early MRI in pretem infants

Author

Plaisier, A, Raets, Marlou, Starre, Cynthia, Roon, Monique, Govaert, Paul, Lequin, MH, Heemskerk, Anneriet, Dudink, J, Plaisier, A, Raets, Marlou, Starre, Cynthia, Roon, Monique, Govaert, Paul, Lequin, MH, Heemskerk, Anneriet, and Dudink, J

Published
2012

24. Combined cardiological and neurological abnormalities due to filamin A gene mutation

Author

de Wit, Marie Claire, Coo, IFM, Lequin, MH, Halley, Dicky, Roos - Hesselink, Jolien, Verheijen - Mancini, Grazia, de Wit, Marie Claire, Coo, IFM, Lequin, MH, Halley, Dicky, Roos - Hesselink, Jolien, and Verheijen - Mancini, Grazia

Abstract

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 clinic had first presented to a cardiologist, suggesting that earlier recognition may be possible if the diagnosis is suspected. From the Erasmus MC cerebral malformations database 24 patients were identified with cerebral bilateral periventricular nodular heterotopia (PNH) without other cerebral cortical malformations. In six of these patients, a pathogenic mutation in FLNA was present. In five a cardiac defect was also found in the outflow tract. Four had presented to a cardiologist before the cerebral abnormalities were diagnosed. The cardiological phenotype typically consists of aortic or mitral regurgitation, coarctation of the aorta or other left-sided cardiac malformations. Most patients in this category will not have a FLNA mutation, but the presence of neurological complaints, hyperlaxity of the skin or joints and/or a family history with similar cardiac or neurological problems in a possibly X-linked pattern may alert the clinician to the possibility of a FLNA mutation.

Published
2011

25. Maternal smoking during pregnancy and kidney volume in the offspring: the Generation R Study

Author

Taal, Rob, Geelhoed, Miranda, Steegers, Eric, Hofman, Bert, Moll, Henriette, Lequin, MH, Heijden, Bert, Jaddoe, Vincent, Taal, Rob, Geelhoed, Miranda, Steegers, Eric, Hofman, Bert, Moll, Henriette, Lequin, MH, Heijden, Bert, and Jaddoe, Vincent

Abstract

An adverse fetal environment leads to smaller kidneys, with fewer nephrons, which might predispose an individual to the development of kidney disease and hypertension in adult life. In a prospective cohort study among 1,072 children followed from early fetal life onward, we examined whether maternal smoking during pregnancy, as a significant adverse fetal exposure, is associated with fetal (third trimester of pregnancy, n = 1,031) and infant kidney volume (2 years of age, n = 538) measured by ultrasound. Analyses were adjusted for various potential confounders. Among mothers who continued smoking, we observed dose-dependent associations between the number of cigarettes smoked during pregnancy and kidney volume in fetal life. Smoking less than five cigarettes per day was associated with larger fetal combined kidney volume, while smoking more than ten cigarettes per day tended to be associated with smaller fetal combined kidney volume (p for trend: 0.002). This pattern was not significant for kidney volume at the age of 2 years. Our results suggest that smoking during pregnancy might affect kidney development in fetal life with a dose-dependent relationship. Further studies are needed to assess the underlying mechanisms and whether these differences in fetal kidney volume have postnatal consequences for kidney function and blood pressure.

Published
2011

26. Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A

Author

Oegema, Renske, de Klein, Annelies, Verkerk, AJMH, Schot, R (Rachel), Dumee, Belinda, Douben, Hannie, Eussen, HJFMM (Bert), Dubbel, RJM (L.), Poddighe, PJ (Pino), De Graaf - van de Laar, Ingrid, Dobyns, WB, van der Spek, Peter, Lequin, MH, Coo, IFM, de Wit, Marie Claire, Wessels, Marja, Verheijen - Mancini, Grazia, Oegema, Renske, de Klein, Annelies, Verkerk, AJMH, Schot, R (Rachel), Dumee, Belinda, Douben, Hannie, Eussen, HJFMM (Bert), Dubbel, RJM (L.), Poddighe, PJ (Pino), De Graaf - van de Laar, Ingrid, Dobyns, WB, van der Spek, Peter, Lequin, MH, Coo, IFM, de Wit, Marie Claire, Wessels, Marja, and Verheijen - Mancini, Grazia

Published
2010

27. Comparable Low-Level Mosaicism in Affected and Non Affected Tissue of a Complex CDH Patient.

Author

Veenma, Danielle, Beurskens, Niels, Douben, Hannie, Eussen, BHJ, Noomen, Petra, Govaerts, LCP, Grijseels, Els, Lequin, MH, de Krijger, Ronald, Tibboel, Dick, de Klein, Annelies, Opstal, D, Veenma, Danielle, Beurskens, Niels, Douben, Hannie, Eussen, BHJ, Noomen, Petra, Govaerts, LCP, Grijseels, Els, Lequin, MH, de Krijger, Ronald, Tibboel, Dick, de Klein, Annelies, and Opstal, D

Published
2010

30. Automatic determination of Greulich and Pyle bone age in healthy Dutch children

Author

van Rijn, RR, Lequin, MH, Thodberg, HH, van Rijn, RR, Lequin, MH, and Thodberg, HH

Abstract

Bone age (BA) assessment is a routine procedure in paediatric radiology, for which the Greulich and Pyle (GP) atlas is mostly used. There is rater variability, but the advent of automatic BA determination eliminates this. To validate the BoneXpert method for automatic determination of skeletal maturity of healthy children against manual GP BA ratings. Two observers determined GP BA with knowledge of the chronological age (CA). A total of 226 boys with a BA of 3-17 years and 179 girls with a BA of 3-15 years were included in the study. BoneXpert's estimate of GP BA was calibrated to agree on average with the manual ratings based on several studies, including the present study. Seven subjects showed a deviation between manual and automatic BA in excess of 1.9 years. They were re-rated blindly by two raters. After correcting these seven ratings, the root mean square error between manual and automatic rating in the 405 subjects was 0.71 years (range 0.66-0.76 years, 95% CI). BoneXpert's GP BA is on average 0.28 and 0.20 years behind the CA for boys and girls, respectively. BoneXpert is a robust method for automatic determination of BA.

Published
2009

34. Estimation of lung growth using computed tomography

Author

Jong, PA, Nakano, Y, Lequin, MH, Merkus, PJFM, Tiddens, H.A.W.M., Hogg, JC, Coxson, HO, Jong, PA, Nakano, Y, Lequin, MH, Merkus, PJFM, Tiddens, H.A.W.M., Hogg, JC, and Coxson, HO

Published
2003

35. Changes in globus pollidus with (pre)term kernicterus

Author

Govaert, PP, Lequin, MH, Swarte, R, Robben, SGF (Simon), Coo, IFM, Kuperus, Nynke, de Rijke, YB, Sinaasappel, M (Maarten), Barkovich, AJ, Govaert, PP, Lequin, MH, Swarte, R, Robben, SGF (Simon), Coo, IFM, Kuperus, Nynke, de Rijke, YB, Sinaasappel, M (Maarten), and Barkovich, AJ

Published
2003

38. Estimation of cancer mortality associated with repetitive computed tomography scanning.

Author

de Jong PA, Mayo JR, Golmohammadi K, Nakano Y, Lequin MH, Tiddens HAW, Aldrich J, Coxson HO, Sin DD, de Jong, Pim A, Mayo, John R, Golmohammadi, Kamran, Nakano, Yasutaka, Lequin, Maarten H, Tiddens, Harm A W M, Aldrich, John, Coxson, Harvey O, and Sin, Don D

Abstract

Rationale: Low-dose radiation from computed tomography (CT) may increase the risk of certain cancers, especially in children. Objective: We sought to estimate the excess all-cause and cancer-specific mortality, which may be associated with repeated CT scanning of patients with cystic fibrosis (CF). Methods: The radiation dose was calculated for a published CF surveillance CT scanning protocol of biennial CT scans, and the risk per scan was estimated using atom-bomb survivor data. A computational model was developed to calculate the excess mortality in a CF cohort associated with radiation from the CT scan and to evaluate the effects of background survival, scanning interval, and level of CT radiation used. The model assumed that there would be no survival benefits associated with repeated surveillance CT scanning. Results: The average radiation dose for the published CT protocol was 1 mSv. Survival reduction associated with annual scans from age 2 yr until death was approximately 1 mo and 2 yr for CF cohorts, with a median survival of 26 and 50 yr, respectively. Corresponding cumulative cancer mortality was approximately 2 and 13% at age 40 and 65 yr, respectively. Biennial CT scanning reduced all-cause and cumulative cancer mortality by half. Conclusion: Routine lifelong annual CT scans carry a low risk of radiation-induced mortality in CF. However, as the overall survival increases for patients with CF, the risk of radiation-induced mortality may modestly increase. These data indicate that radiation dose must be considered in routine CT imaging strategies for patients with CF, to ensure that benefits outweigh the risks. [ABSTRACT FROM AUTHOR]

Published
2006
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39. Tumour type and size are high risk factors for the syndrome of "cerebellar" mutism and subsequent dysarthria.

Author

Catsman-Berrevoets CE, Van Dongen HR, Mulder PGH, Geuze DP, Paquier PF, Lequin MH, Catsman-Berrevoets, C E, Van Dongen, H R, Mulder, P G, Paz y Geuze, D, Paquier, P F, and Lequin, M H

Abstract

Objective: "Cerebellar mutis" and subsequent dysarthria (MSD) is a documented complication of posterior fossa surgery in children. In this prospective study the following risk factors for MSD were assessed: type, size and site of the tumour; hydrocephalus at presentation and after surgery, cerebellar incision site, postoperative infection, and cerebellar swelling.Methods: In a consecutive series of 42 children with a cerebellar tumour, speech and neuroradiological studies (CT and MRI) were systematically analysed preoperatively and postoperatively. Speech was assessed using the Mayo Clinic lists and the severity of dysarthria using the Michigan rating scale.Results: Twelve children (29%) developed MSD postoperatively. The type of tumour, midline localisation, and vermal incision were significant single independent risk factors. In addition, an interdependency of possible risk factors (tumour>5 cm, medulloblastoma) was found.Conclusion: MSD often occurs after paediatric cerebellar tumour removal and is most likely after removal of a medulloblastoma with a maximum lesion diameter>5 cm. [ABSTRACT FROM AUTHOR]

Published
1999

40. Syndromic Craniosynostosis

Author

Florisson, Joyce, Mathijssen, Irene, Lequin, MH, and Plastic and Reconstructive Surgery and Hand Surgery

Published
2021

44. Bone health in childhood low-grade glioma: an understudied problem.

Author

van Roessel IMAA, Gorter JE, Bakker B, van den Heuvel-Eibrink MM, Lequin MH, van der Lugt J, Meijer L, Schouten-van Meeteren AYN, and van Santen HM

Abstract

Objective: Children with a supratentorial midline low-grade glioma (LGG) may be at risk for impaired bone health due to hypothalamic-pituitary dysfunction, obesity, exposure to multiple treatment modalities, and/or decreased mobility. The presence of impaired bone health and/or its severity in this population has been understudied. We aimed to identify the prevalence and risk factors for bone problems in children with supratentorial midline LGG., Materials and Methods: A retrospective study was performed in children with supratentorial midline (suprasellar or thalamic) LGG between 1 January 2003 and 1 January 2022, visiting the Princess Máxima Center for Pediatric Oncology. Impaired bone health was defined as the presence of vertebral fractures and/or very low bone mineral density (BMD)., Results: In total, 161 children were included, with a median age at tumor diagnosis of 4.7 years (range: 0.1-17.9) and a median follow-up of 6.1 years (range: 0.1-19.9). Five patients (3.1%) had vertebral fractures. In 99 patients, BMD was assessed either by Dual Energy X-ray Absorptiometry (n = 12) or Bone Health Index (n = 95); 34 patients (34.3%) had a low BMD (≤ -2.0). Impaired visual capacity was associated with bone problems in multivariable analysis (OR: 6.63, 95% CI: 1.83-24.00, P = 0.004)., Conclusion: In this retrospective evaluation, decreased BMD was prevalent in 34.3% of children with supratentorial midline LGG. For the risk of developing bone problems, visual capacity seems highly relevant. Surveillance of bone health must be an aspect of awareness in the care and follow-up of children with a supratentorial midline LGG., Significance Statement: Patients with supratentorial midline LGG may encounter various risk factors for impaired bone health. Bone problems in survivors of childhood supratentorial midline LGG are, however, understudied. This is the first paper to address the prevalence of bone problems in this specific patient population, revealing visual problems as an important risk factor. Diencephalic syndrome historyand/or weight problems associated with hypothalamic dysfunction were related to bone problems in univariate analyses. The results of this study can be used in the development of guidelines to adequately screen and treat these patients to subsequently minimizing bone problems as one of the endocrine complications.

Published
2024
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45. Neuroimaging of Vermiform Giant Arachnoid Granulations in Children.

Author

Guevara Tirado OA, Mertiri L, Kralik SF, Desai NK, Huisman TAGM, Lequin MH, and Tran HBD

Abstract

Arachnoid granulations (AGs) are generally benign structures within the subarachnoid space that extend into the dural sinuses and calvarial bone. They can present in a variety of sizes but are termed 'giant' arachnoid granulations (GAGs) when they are larger than 1 cm in diameter or take up a significant portion of the dural sinus' lumen. Vermiform giant arachnoid granulations are a specific type of GAG that are known for their worm-like appearance. Specifically, these vermiform GAGs can be challenging to diagnose as they can mimic other pathologies like dural sinus thrombosis, sinus cavernomas, or brain tumors. In this case series, we present two cases of vermiform giant arachnoid granulations, discuss their imaging characteristics and highlight the diagnostic challenges to improve identification and prevent misdiagnoses.

Published
2024
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46. Incidence and Characteristics of Cerebellar Atrophy/Volume Loss in Children with Confirmed Diagnosis of Tuberous Sclerosis Complex.

Author

Mertiri L, Boltshauser E, Kralik SF, Desai NK, Lequin MH, and Huisman TAGM

Abstract

Objectives: The goal of our study was to determine the incidence of cerebellar atrophy, assess the imaging findings in the posterior fossa and determine the incidence of hippocampal sclerosis in a cohort of pediatric patients with confirmed tuberous sclerosis complex (TSC). Material and methods: MRI studies of 98 TSC pediatric patients (mean age 7.67 years) were evaluated for cerebellar atrophy, cerebral/cerebellar tubers, white matter lesions, subependymal nodules, subependymal giant cell astrocytomas, ventriculomegaly, and hippocampal sclerosis. Clinical charts were revisited for clinical symptoms suggesting cerebellar involvement, for seizures and treatment for seizures, behavioral disorders and autism. Results: Cerebral tubers were present in 97/98 cases. In total, 97/98 had subependymal nodules, 15/98 had SEGA, 8/98 had ventriculomegaly and 4/98 had hippocampal sclerosis. Cerebellar tubers were found in 8/98 patients (8.2%), whereas cerebellar atrophy was described in 38/98 cases (38.8%). In 37/38 patients, cerebellar volume loss was mild and diffuse, and only one case presented with left hemi-atrophy. Briefly, 32/38 presented with seizures and were treated with anti-seizure drugs. In total, 8/38 (21%) presented with behavioral disorders, 10/38 had autism and 2/38 presented with seizures and behavioral disorders and autism. Conclusions: Several studies have demonstrated cerebellar involvement in patients with TSC. Cerebellar tubers differ in shape compared with cerebral tubers and are associated with cerebellar volume loss. Cerebellar atrophy may be focal and diffuse and one of the primary cerebellar manifestations of TSC, especially if a TSC2 mutation is present. Cerebellar degeneration may, however, also be secondary/acquired due to cellular damage resulting from seizure activity, the effects of anti-seizure drugs and anoxic-ischemic injury from severe seizure activity/status epilepticus. Further, prospective studies are required to identify and establish the pathogenic mechanism of cerebellar atrophy in patients with TSC.

Published
2024
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47. Timing of cerebral damage in molybdenum cofactor deficiency: A meta-analysis of case reports.

Author

Ferreira EA, Hofstede FC, Haijes-Siepel HA, Lichtenbelt KD, Pistorius L, de Sain-van der Velden MGM, Nikkels PGJ, Lequin MH, de Vries LS, van der Crabben SN, and van Hasselt PM

Abstract

Purpose: Molybdenum cofactor deficiency (MoCD) classically presents shortly after birth, with neurological symptoms ascribed to postnatal toxicity of accumulating sulphite. Case reports suggest that cerebral damage associated with MoCD may have a prenatal onset., Methods: A meta-analysis of case reports was performed on individuals with genetically proven MoCD retrieved through a systematic review and in-house search. Cases were categorized as classical or late-onset, based on the time of onset of symptoms. Available cerebral images were scored for the presence of restricted diffusion, pathological signal, subcortical cysts, and atrophy. Estimated onset of each event and the minimal number of events needed to explain the observed imaging abnormalities were deduced by combining age at imaging, type of imaging abnormality, and known natural evolution of the imaging abnormalities., Results: Of a total of 30 retrieved cases, 21 were classical. Prenatal origin of damage was possible in all classical cases and certain in 11 of 21 (52%). Multiple events were deduced in 5/21 classical cases based on imaging data alone and in 11 of 21 cases when presuming that a postnatal onset of symptoms signifies a recent event. Multiple, but postnatal, events were also described in 3 of 9 late-onset cases., Conclusion: Prenatal onset of cerebral damage in patients with classical MoCD is more frequently encountered than anticipated. It may have been overlooked by the overwhelming postnatal symptoms erroneously pointing to a single culprit. This insight is important when counseling for prognosis, particularly in the context of considering the timing and anticipated prospects of therapeutic intervention., Competing Interests: The authors declare no conflicts of interest., (© 2024 The Authors.)

Published
2024
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48. Unraveling the relations between post-traumatic stress symptoms, neurocognitive functioning, and limbic white matter in pediatric brain tumor patients.

Author

Leenders AEM, Kremer-Hooft van Huijsduijnen E, Robalo B, van Male R, De Luca A, Kemps R, Hoving E, Lequin MH, Grootenhuis MA, and Partanen M

Abstract

Background: Pediatric brain tumor patients are at risk of developing neurocognitive impairments and associated white matter alterations. In other populations, post-traumatic stress symptoms (PTSS) impact cognition and white matter. This study aims to investigate the effect of PTSS on neurocognitive functioning and limbic white matter in pediatric brain tumor patients., Methods: Sixty-six patients (6-16 years) completed neuropsychological assessment and brain MRI (1-year post-diagnosis) and parents completed PTSS proxy questionnaires (CRIES-13; 1-3 months and 1-year post-diagnosis). Mean Z -scores and percentage impaired (>1SD) for attention, processing speed, executive functioning, and memory were compared to normscores ( t -tests, chi-square tests). Multi-shell diffusion MRI data were analyzed for white matter tractography (fractional anisotropy/axial diffusivity). Effects of PTSS on neurocognition and white matter were explored with linear regression models (FDR correction for multiple testing), including age at diagnosis, treatment intensity, and tumor location as covariates. Neurocognition and limbic white matter associations were explored with correlations., Results: Attention ( M  = -0.49, 33% impaired; P  < .05) and processing speed ( M  = -0.57, 34% impaired; P  < .05) were significantly lower than healthy peers. PTSS was associated with poorer processing speed ( β  = -0.64, P  < .01). Treatment intensity, age at diagnosis, and tumor location, but not PTSS, were associated with limbic white matter metrics. Neurocognition and white matter metrics were not associated., Conclusions: Higher PTSS was associated with poorer processing speed, highlighting the need for monitoring, and timely referrals to optimize psychological well-being and neurocognitive functioning. Future research should focus on longitudinal follow-up and explore the impact of PTSS interventions on neurocognitive performance., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (© The Author(s) 2024. Published by Oxford University Press, the Society for Neuro-Oncology and the European Association of Neuro-Oncology.)

Published
2024
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49. Cranial MRI beyond the Neonatal Period and Neurodevelopmental Outcomes in Neonatal Encephalopathy Due to Perinatal Asphyxia: A Systematic Review.

Author

Parmentier CEJ, Kropman T, Groenendaal F, Lequin MH, de Vries LS, Benders MJNL, and Alderliesten T

Abstract

Background: Magnetic resonance imaging (MRI) including diffusion-weighted imaging within seven days after birth is widely used to obtain prognostic information in neonatal encephalopathy (NE) following perinatal asphyxia. Later MRI could be useful for infants without a neonatal MRI or in the case of clinical concerns during follow-up. Therefore, this review evaluates the association between cranial MRI beyond the neonatal period and neurodevelopmental outcomes following NE., Methods: A systematic literature search was performed using PubMed and Embase on cranial MRI between 2 and 24 months after birth and neurodevelopmental outcomes following NE due to perinatal asphyxia. Two independent researchers performed the study selection and risk of bias analysis. Results were separately described for MRI before and after 18 months., Results: Twelve studies were included (high-quality n = 2, moderate-quality n = 6, low-quality n = 4). All reported on MRI at 2-18 months: seven studies demonstrated a significant association between the pattern and/or severity of injury and overall neurodevelopmental outcomes and three showed a significant association with motor outcome. There were insufficient data on non-motor outcomes and the association between MRI at 18-24 months and neurodevelopmental outcomes., Conclusions: Cranial MRI performed between 2 and 18 months after birth is associated with neurodevelopmental outcomes in NE following perinatal asphyxia. However, more data on the association with non-motor outcomes are needed.

Published
2023
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50. Tocilizumab for the fifth progression of cystic childhood craniopharyngioma-a case report.

Author

de Vos-Kerkhof E, Buis DR, Lequin MH, Bennebroek CA, Aronica E, Hulleman E, Zwaveling-Soonawala N, van Santen HM, and Schouten-van Meeteren AYN

Subjects
Humans, Female, Child, Adolescent, Hypothalamus pathology, Craniopharyngioma complications, Craniopharyngioma drug therapy, Pituitary Neoplasms complications, Pituitary Neoplasms drug therapy, Pituitary Neoplasms pathology, Hypopituitarism pathology
Abstract

We present the case of a 15-year-old girl, with a fifth cystic progression of an adamantinomatous craniopharyngioma after multiple surgeries and previous local radiotherapy. She had severe visual impairment, panhypopituitarism including diabetes insipidus, and several components of hypothalamic damage, including morbid obesity and severe fatigue. To prevent further late effects hampering her quality of survival, she was treated biweekly with intravenous tocilizumab, an anti-interleukin-6 agent, which stabilized the cyst for a prolonged time. Based on the biology of adamantinomatous craniopharyngioma, this immune-modulating treatment seems promising for the treatment of this cystic tumor in order to reduce surgery and delay or omit radiotherapy., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 de Vos-Kerkhof, Buis, Lequin, Bennebroek, Aronica, Hulleman, Zwaveling-Soonawala, van Santen and Schouten-van Meeteren.)

Published
2023
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