F. Brunelle

Arterial aneurysms and tuberous sclerosis: a classic but little known association

Tuberous sclerosis is a rare autosomal dominant syndrome in which aortic aneurysm is a classic but little known cause of sudden death. We report a 20-month-old boy with tuberous sclerosis and iliofemoral arterial aneurysms. This case highlights the importance of systematic screening for such vascular complications. Multislice CT or MRI is mandatory as a screening and diagnostic tool in this setting to complement US with Doppler examination.

Granulomatose septique chronique révélée par une aspergillose pulmonaire néonatale

Resume Laspergillose pulmonaire est devenue la principale cause de deces chez les enfants atteints de granulomatose septique chronique (GSC). Elle peut survenir avant lâge de 1 an et est alors souvent revelatrice de la GSC. Observation. - Un nouveau-ne de sexe masculin a ete hospitalisea J27 de vie pour une fievre a 39°C, des troubles hemodynamiques et un syndrome inflammatoire biologique, rattaches a une infection pulmonaire. Le scanner thoracique a revele de multiples nodules intraparenchymateux bilateraux. Une biopsie pulmonaire chirurgicale a montre des granulomes histiocytaires avec des cellules geantes multinucleees. Les cultures des differents prelevements (biopsie pulmonaire, trachee, lavage alveolaire) ont permis disoler un Aspergillus fumigatus . Letude de la chemiluminescence des polynucleaires neutrophiles (PN) a permis devoquer le diagnostic de GSC, confirme par lanalyse ulterieure des fonctions du PN. Linfection aspergillaire a regresse apres 12 mois de traitement par amphotericine B iv. Conclusion. - Letude de la chemiluminescence doit etre effectuee chez un petit nourrisson atteint de pneumopathie multifocale en contexte infectieux, qui peut etre revelatrice dune GSC.

Arterial Spin Labeling MRI: A step forward in non-invasive delineation of focal cortical dysplasia in children

The aim was to localize the interictal cerebral perfusion abnormalities of focal cortical dysplasia (FCD) in children with Arterial Spin Labeling MRI (ASL) in a retrospective study of nine consecutive children explored with multimodal investigation during interictal periods. We analyzed brain morphology with a 1.5T MRI and a dedicated protocol for epilepsy. Brain perfusion was quantified with pseudo continuous ASL. Brain metabolism was imaged with (18)FDG-PET in six patients. Microvessel histology was studied in five children who underwent epilepsy surgery with CD34 immunostaining on FCD and control samples. Localized decrease of cerebral blood flow (CBF) was found on visual analysis in all patients with ASL. It was co-localized with the structural MRI abnormalities in every case, with PET hypo-metabolism in 5/6 cases, and with histologically proven FCD type IIb in 5/5 cases (all seizure free after surgery). CBF was lower (Kruskal-Wallis test, p=0.001) in FCD than in normal cortex. The total count of CD34+ microvessels was similar in FCD and control cases, but microvasculature showed disorganized architecture. Interictal ASL is a non-invasive method that may help to localize the epileptogenic zone showing hypo-perfusion in FCD. Whether this finding could be generalized to MRI-negative FCD needs to be further studied.

Non-invasive assessment of congenital pulmonary vein stenosis in children using cardiac-non-gated CT with 64-slice technology

BACKGROUNDnManagement of congenital pulmonary vein stenosis is a diagnostic challenge. Echocardiography may be insufficient and thus cardiac catheterization remains the reference standard in this setting. The aim of the study was to investigate the accuracy of cardiac-non-gated CT using 64-slice technology in detecting congenital pulmonary vein stenosis in children.nnnMATERIALS AND METHODSnCT examinations were consecutively performed from May 2005 to December 2006 in 13 children aged 1.5-12 months (median 5 months) for suspected congenital pulmonary vein stenosis. Cardiac-non-gated CT acquisitions were performed after the peripheral injection of contrast agent. Pulmonary veins were evaluated for their pattern of connectivity from the lung to the left atrium and for the presence of stenosis. CT findings of pulmonary vein stenosis were compared with combined findings available from echocardiography, catheterization and surgery.nnnRESULTSnPulmonary veins from the right lung (n=29) and left lung (n=26) were evaluated as separate structures (N=55). Of the 55 structures, 32 had surgical and/or catheterization data and 45 had echocardiography for comparison. CT visualized 100% (55/55) of the investigated structures, while echocardiography visualized 82% (45/55). In the 13 subjects CT identified 10 stenotic pulmonary veins. CT confirmed the echocardiography suspicion of pulmonary vein stenosis in 100% (7/7) and established a new diagnosis in 3 other patients. CT agreed with surgery/catheterization in 100% (10/10) of the available comparisons.nnnCONCLUSIONnCardiac-non-gated CT assessed the pulmonary veins more completely than echocardiography and should be considered as a viable alternative for invasive pulmonary venography for detecting pulmonary vein stenosis in children.

Post-operative cardiac lesions after cardiac surgery in childhood

A new population of patients in cardiology has been growing steadily so that the number of grown-ups with congenital heart disease (GUCH) is almost equal to those under paediatric care. The dramatic improvement in survival should lead to a larger number of GUCH patients than children with CHD in the new millennium. Although echocardiography remains the imaging modality of choice, cross-sectional imaging techniques have a decision-aiding function for the postoperative evaluation of surgical reconstructions as well as in the preparation of complex interventional procedures. Cardiovascular CT and MRI are often complementary in providing comprehensive complex anatomical evaluation, haemodynamic assessment of residual postoperative lesions and complications of surgery. A thorough understanding of postsurgical corrections is a prerequisite for choosing the optimal imaging techniques and achieving an accurate evaluation.

Cardiac CT angiography after coronary artery surgery in children using 64-slice CT scan

OBJECTIVEnThe purpose of this study was to compare the diagnostic accuracy of 64-slice CT with that of invasive angiography in the detection of graft and/or coronary angioplasty stenosis in children who had undergone coronary artery surgery.nnnPOPULATION AND METHODSnFifteen consecutive children (8 male and 7 female; age 9.2+/-6.1 years) underwent 64-slice CT because of chest pain or ECG changes mean 4.8+/-3.7 years after surgical coronary artery surgery; 10 patients had coronary angioplasty using a patch from the saphenous vein, four had mammary artery bypass, and one had saphenous vein bypass. Six main segments of the coronary arteries and all the bypass graft considered as a single segment were analyzed and compared with invasive angiography used as the reference standard.nnnRESULTSnCT correctly identified the four children with coronary angioplasty and mammary graft lesions that were confirmed by conventional angiography: one patient had a significant stenosis (>50% stenosis) at the mammary bypass graft anastomosis site; three other had non-significant stenosis (<50% stenosis) including a mild lesion of the saphenous vein patch in two patients and a mild lesion at the anastomosis site of the mammary bypass in one. All segments identified as normal by CT in the other 11 children were also found to be normal by conventional angiography.nnnCONCLUSIONnIn centers expert in this technique, 64-slice CT scanning is a promising, rapid, and useful diagnostic technique for evaluating both coronary angioplasty and bypass graft lesions in children who had undergone coronary artery surgery.

CT demonstration of "chicken trachea" resulting from complete cartilaginous rings of the trachea in ring-sling complex.

We report a 10-month-old infant who presented with tetralogy of Fallot and respiratory disease in whom the suspicion of a ring-sling complex was confirmed by high-resolution CT. CT demonstrated the typical association of left pulmonary artery sling and the “chicken trachea” resulting from complete cartilaginous rings of the trachea.

De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy

Background Moyamoya angiopathy (MMA) is characterised by a progressive stenosis of the terminal part of the internal carotid arteries and the development of abnormal collateral deep vessels. Its pathophysiology is unknown. MMA can be the sole manifestation of the disease (moyamoya disease) or be associated with various conditions (moyamoya syndrome) including some Mendelian diseases. We aimed to investigate the genetic basis of moyamoya using a whole exome sequencing (WES) approach conducted in sporadic cases without any overt symptom suggestive of a known Mendelian moyamoya syndrome. Methods A WES was performed in four unrelated early-onset moyamoya sporadic cases and their parents (trios). Exome data were analysed under dominant de novo, autosomal recessive and X-linked hypotheses. A panel of 17 additional sporadic cases with early-onset moyamoya was available for mutation recurrence analysis. Results We identified two germline de novo mutations in CBL in two out of the four trio probands, two girls presenting with an infancy-onset severe MMA. Both mutations were predicted to alter the ubiquitin ligase activity of the CBL protein that acts as a negative regulator of the RAS pathway. These two germline CBL mutations have previously been described in association with a developmental Noonan-like syndrome and susceptibility to juvenile myelomonocytic leukaemia (JMML). Notably, the two mutated girls never developed JMML and presented only subtle signs of RASopathy that did not lead to evoke this diagnosis during follow-up. Conclusions These data suggest that CBL gene screening should be considered in early-onset moyamoya, even in the absence of obvious signs of RASopathy.

Interet de l’IRM dans le diagnostic de myocardite aigue chez les enfants

Objectifs Evaluer l’apport de l’IRM dans le diagnostic de myocardite aigue chez les enfants. Materiels et methodes Vingt-trois enfants (moyenne d’âge de 12 ans, extremes 1-15) hospitalises pour suspicion de myocardite aigue ont eu un bilan exhaustif comportant un ECG, un bilan biologique avec dosage des marqueurs de l’inflammation et de la tropo-nine, une radiographie de thorax, une echocardiographie, et une IRM cardiaque. Les IRM cardiaques ont ete realisees sur une machine 1,5T, sans anesthesie generale, avec synchronisation a l’ECG (sequences cine en SSFP, T2 sang noir, perfusion precoce et rehaussement tardif a 10 min apres injection intraveineuse de gadolinium). Le diagnostic de myocardite aigue etait base sur les anomalies IRM : hypersignal sous-epicardique non systematise sur les sequences SSFP, T2 et sur le rehaussement tardif, perfusion normale. Resultats Les diagnostics retenus etaient les suivants : myocardite aigue (nxa0=xa012), cardiomyopathie dilatee hypokinetique primitive (nxa0=xa08), normal (nxa0=xa03). Parmi les 12 cas de myocardite averee a l’IRM, 9 patients avaient des symptomes recents (datant de moins de 7 jours). La troponine etait elevee (0,21-54xa0μg/ml) ; il y avait des troubles de la repolarisation sur l’ECG de repos ; il y avait des anomalies de la cinetique segmentaire a l’echocardiographie chez 5 patients. Chez les 3 autres cas de myocardite averee a l’IRM, les symptomes dataient de plus de 7 jours ; la troponine etait negative ; les ECG etaient normaux ; les echocardiographies etaient normales. Chez les 11 patients sans myocardite, le bilan etiologique etait negatif, y compris l’examen des coronaires au coroscanner. Conclusion Les anomalies IRM associees a une elevation de la troponine permettent de porter definitivement le diagnostic de myocardite aigue chez les enfants presentant des symptomes datant de moins de 7 jours.

Apport du scanner multibarrette dans le diagnostic de retour pulmonaire veineux anormal chez l’enfant

Objectifs Evaluer l’efficacite du scanner 64 barrettes non synchronise a l’electrocardiogramme dans la detection de retour veineux pulmonaire anormal total ou partiel (RPVATIRPVAP) chez l’enfant. Materiels et methodes De mai 2005 a decembre 2007, 8 RPVAT et 42 RPVAP et ont ete diagnostiques en radiologie pediatrique a l’Hopital Necker. L’âge moyen au diagnostic un etait de 3,5 jours (1 jour a 14 mois) pour les RPVAT et 3,5 ans (6 jours a 17 ans) pour les RVPAP. Les veines pulmonaires ou collecteurs se drainant dans les veines systemiques ou dans l’oreillette droite furent evaluees comme des structures separees. Les resultats scanographiques furent compares avec les donnees de l’echographie cardiaque ou du catheterisme et/ou chirurgie disponibles. Resultats Le scanner a identifie 10 veines anormales responsables de RPVAT et 82 veines responsables de RPVAP. Parmi elles, 69 % ont ete reconnues par echocardiographie, 78 % par chirurgie et/ou catheterisme. Le scanner multibarrette etait confirme par la chirurgie ou le catheterisme dans 100 % des cas. Conclusion La veinographie pulmonaire par scanner cardiaque 64 barrettes non synchronise a l’electrocardiogramme evalue le systeme veineux pulmonaire de facon plus complete que l’echographie cardiaque. C’est une methode fiable pour detecter les anomalies de retour veineux pulmonaire chez l’enfant.