Walker-Warburg syndrome diagnosed by findings of typical ocular abnormalities on prenatal ultrasound.

Walker-Warburg syndrome (WWS) is a rare, lethal autosomal recessive disorder characterized by congenital muscular dystrophy and brain and eye anomalies. A prenatal finding of hydrocephalus associated with posterior fossa anomalies and/or encephalocele is nonspecific, whereas additional ocular anomalies are typical for WWS. We report a fetus of consanguineous parents found to have encephalocele at US in week 15 of gestation. The parents did not wish to terminate the pregnancy. Follow-up US revealed bilateral abnormal ocular echoic structures suggesting a major form of persistent primary vitreous. WWS was suspected. The POMT2 mutation confirmed this diagnosis. In hydrocephalus associated with posterior fossa anomalies and/or encephalocele, we recommend detailed US examination of the fetal eyes. Ocular anomalies in this context strongly suggest WWS.

ESPR uroradiology task force and ESUR paediatric working group: imaging recommendations in paediatric uroradiology, part IV: Minutes of the ESPR uroradiology task force mini-symposium on imaging in childhood renal hypertension and imaging of renal trauma in children.

Two new recommendations of the European Society of Radiology task force and the European Society of Uroradiology workgroup on paediatric uroradiology are presented. One deals with diagnostic imaging in children after trauma to the urinary tract-renal trauma, in particular. The other concerns the evaluation of suspected renal hypertension. Available data in the paediatric literature are either unsatisfactory or controversial for both of these clinical settings. Therefore, the following consensus-based proposals aim at outlining effective imaging algorithms to reduce invasive imaging procedures while optimising diagnostic accuracy. The objective of following a more uniform imaging approach is to facilitate future meta-analysis as well as multicentre and other more evidence-based studies. The practise in paediatric radiology is typically based on local availability and on the limitations of professional expertise and equipment, balanced against the perceived needs of the individual child. Although this is unlikely to change in the near future, it does not release the physicians in charge of diagnostic imaging from their responsibility in choosing and providing state-of-the-art imaging and management protocols that are adapted specifically for use in children.

[Functional MR urography in children]. / Uro-IRM fonctionnelle chez l'enfant.

MR Urography (MRU) provides both morphologic and functional information without radiation exposure. It enables the assessment of split renal function, excretion, and quantification of obstruction. MRU is thus complementary to ultrasonography in the assessment of pre- and post-natal obstructive uropathies in children. If available, MRU should be definitely preferred to intravenous urography.

Retropharyngeal lipostructure in the treatment of velopharyngeal insufficiency: A prospective study and update.

INTRODUCTION: Retropharyngeal lipostructure is a recent procedure in velopharyngeal insufficiency (VPI), offering an effective alternative to heavier surgery. OBJECTIVES: To update and assess retropharyngeal lipostructure as a treatment for VPI in the University Hospital Center of Rouen (France). TYPE OF STUDY: Single-center prospective study, from May 2012 to May 2014. PATIENTS AND METHODS: Six patients (4 girls, 2 boys) presenting with VPI were treated by retropharyngeal lipostructure. Age at surgery ranged between 6 and 12 years. Four of the patients bore a 22q11 microdeletion. Treatment was indicated in case of Borel-Maisonny type 2b (n=2) or 2m (n=4) despite well-conducted speech therapy and of≥50% velopharyngeal sphincter closure on nasal endoscopy. Patients were assessed preoperatively and at 3 months, by a multidisciplinary team. Borel-Maisonny type was assessed by a speech therapist. Nasality was measured on assisted vocal evaluation (EVA®). Sphincter closure was assessed on dynamic MRI. RESULTS: Between 6 and 8cm3autologous fat was injected. At 3months, 4 children showed 1-grade improvement in Borel-Maisonny type. Nasality decreased systematically, from a mean 14.5% preoperatively to 10.5% postoperatively. MRI showed improvement in all cases, with complete closure in occlusive vowels in 3 children. CONCLUSION: EVA® and MRI provide precise objective assessment of VPI. Retropharyngeal lipostructure is a simple, relatively non-invasive, reproducible technique, providing good results in VPI.

[Thrombosed scapular intramuscular venous malformation: A pediatric case report]. / Malformation veineuse intramusculaire scapulaire thrombosée : à propos d'un cas chez un enfant.

Venous malformation (VM) is a frequent soft tissue mass in children that should not be confused with vascular tumors. We report the case of a 10-year-old boy with a bulky thrombosed VM of the shoulder with functional disability. D-dimer levels were high. Pathognomonic phleboliths were demonstrated on conventional x-rays. Echo-doppler confirmed the venous nature of the lesion and areas without flow suspicious for thrombosis. MRI provides the deep extension and can show non-calcified thrombi that are difficult to see with ultrasound. Localized intravascular coagulopathy is often associated with thrombosis phenomena and has to be confirmed by measurement of D-dimer levels in order to initiate anticoagulation quickly with low-molecular-weight heparin. Follow-up includes measurement of D-dimer levels and potentially MRI to evaluate the anticoagulation efficacy and tailor treatment duration.

Ovarian fibromatosis and sotos syndrome with a new genetic mutation.

BACKGROUND: Sotos syndrome is one the most common overgrowth conditions, after Beckwith-Wiedemann syndrome. As with other overgrowth syndromes, Sotos syndrome can be associated with an increased risk of tumors. CASE: We describe a young girl with Sotos syndrome and ovarian fibromatosis with a new mutation not reported before in the literature. SUMMARY AND CONCLUSION: Development of ovarian tumor in Sotos syndrome has been poorly documented. Ovarian fibromatosis is a very rare non neoplastic disease. Management is guided by the benignity of the lesion and consists of surgical excision of the fibroma.

Early diagnosis of thoracolumbar spine fractures in children. A prospective study.

INTRODUCTION: Early detection of spine fractures in children is difficult because the clinical examination does not always raise worrisome symptoms and the vertebrae are still cartilaginous, and consequently incompletely visualized on routine X-rays. Therefore, diagnosis is often delayed or missed. HYPOTHESIS: The search for a "breath arrest" sensation at the moment of the trauma improves early detection of thoracolumbar spine fractures in children. MATERIALS AND METHODS: This was a prospective monocentric study including all children consulting at the paediatric emergency unit of a single university hospital with a thoracolumbar spine trauma between January 2008 and March 2009. All children had the same care. Pain was quantified when they arrived using the visual analog scale. Clinical examination searched for a "breath arrest" sensation at the moment of the trauma and noted the circumstances of the accident. X-rays and MRI were done in all cases. RESULTS: Fifty children were included with a mean age of 11.4 years. Trauma occurred during games or sports in 94% of the cases. They fell on the back in 72% cases. Twenty-three children (46%) had fractures on the MRI, with a mean number of four fractured vertebrae (range, 1-10). Twenty-one of them (91%) had a "breath arrest" sensation. Fractures were not visualized on X-rays in five cases (22%). Twenty-seven children had no fracture; 19 of them (70%) did not feel a "breath arrest". Fractures were suspected on X-rays in 15 cases (56%). DISCUSSION: The search for a "breath arrest" sensation at the moment of injury improves early detection of thoracolumbar spine fractures in children (Se=87%, Sp=67%, PPV=69%, NPV=86%). When no fracture is apparent on X-rays and no "breath arrest" sensation is expressed by the child, the clinician can be sure there is no fracture (Se=26%, Sp=100%, PPV=100%, NPV=53%). LEVEL OF EVIDENCE: Level III.

[Lyme arthritis in children: a diagnostic trap]. / Arthrite de Lyme chez l'enfant : un piège diagnostique.

Lyme disease incidence is diverse in France. It is rare in many regions but very frequent in Central and Eastern France. Arthritis is a late manifestation of Lyme disease. In children, the clinical and biological picture often resembles that of septic arthritis and juvenile rheumatoid arthritis, which are more frequent. This explains why diagnosis may be delayed, especially when patient lives in a region of low incidence. We report the case of an 8-year old girl with knee arthritis treated as septic arthritis in a region where Lyme disease is rare. Six days later, clinical and biological worsening suggested that the diagnosis had to be reconsidered. Lyme arthritis was confirmed by serology. Treatment was adapted and the progression was positive. This case reminds us that, in children, Lyme arthritis may look alike septic arthritis or juvenile rheumatoid arthritis and must be considered as a possible diagnosis, even in low-incidence areas.

[Imaging evaluation of renal function: principles and limitations]. / Mesure de la performance rénale en imagerie: principes et limites.

The kidney performs multiple functions. Glomerular filtration is the most studied of these functions. In clinical practice, the surgical indication for patients with unilateral uropathy is frequently based on the split renal function as demonstrated by scintigraphy. MRI is not yet validated as a technique but nonetheless offers an interesting non-radiating alternative to achieve both morphological and functional renal evaluation. Recent pulse sequences such as diffusion, arterial spin labeling, and blood oxygenation dependent imaging may also provide additional information. CT and US remain of limited value for the evaluation of renal function.