Evaluation of cortical segmentation pipelines on clinical neonatal MRI data.

Magnetic Resonance Imaging (MRI) can provide 3D morphological information on brain structures. Such information is particularly relevant for carrying out morphometric brain analysis, especially in the newborn and in the case of prematurity. However, 3D neonatal MRI acquired in clinical environments are low-resolution, anisotropic images, making segmentation a challenging task. In this context, preprocessing techniques aim to increase the image resolution. Interpolation techniques were classically used; super-resolution (SR) techniques have recently appeared as an emerging alternative. In this paper, we evaluate the performance of different SR methods against the classical interpolation in the application of neonatal cortex segmentation. Additionally, we assess the robustness of different segmentation methods for each estimation of high resolution MRI input. Results are evaluated both qualitatively and quantitatively with neonatal clinical MRI.

Risk of malignant neoplasms in acromegaly: a case-control study.

PURPOSE: Acromegaly is a chronic disease resulting from pathological oversecretion of growth hormone and subsequently insulin growth factor-1. Several complications of the disease have been reported, including cardiovascular diseases, respiratory disorders but also increased risk of benign and malignant neoplasms. The aim of the study was to evaluate the risk of malignant neoplasms in the patients with acromegaly in comparison with the control group. PATIENTS AND METHODS: Medical documentation of acromegalic patients treated in one medical center between 2005 and 2016 has been analyzed. Results were compared with sex- and age-matched group of subjects with prolactinomas and hormonally inactive pituitary lesions hospitalized in the same department. RESULTS: Two hundred patients with acromegaly were included. Control group was composed of 145 patients. Any malignant neoplasm in anamnesis was present in 27 (13.5 %) patients with acromegaly and six (4.1 %) subjects from control group (p = 0.003). Thyroid cancer was present in 14 (7.0 %) patients with acromegaly and two (1.4 %) in control group (p = 0.02). Breast cancer was present in seven women (5.4 % of women) in acromegaly group but none of subjects in control group (p = 0.02). Colon cancer-4 (2.0 %) patients in acromegaly group and 0 in control group (p = 0.14). CONCLUSIONS: Malignant neoplasms are significantly more common in patients with acromegaly. Particularly, risk of thyroid cancer was increased over fivefold. Systematic screening for neoplastic diseases should be important part of follow-up in these patients. Further case-control studies are strongly indicated to evaluate which neoplasms are more common in acromegalic patients and what is the exact risk of malignancy.

Renal Involvement in a French Paediatric Cohort of Patients with Lysinuric Protein Intolerance.

Lysinuric protein intolerance (LPI) is a rare autosomal recessive metabolic disorder, caused by defective transport of cationic amino acids at the basolateral membrane of epithelial cells, typically in intestines and kidneys. The SLC7A7 gene, mutated in LPI patients, encodes the light subunit (y+LAT1) of a member of the heterodimeric amino acid transporter family.The diagnosis of LPI is difficult due to unspecific clinical features: protein intolerance, failure to thrive and vomiting after weaning. Later on, patients may present delayed growth osteoporosis, hepatosplenomegaly, muscle hypotonia and life-threatening complications such as alveolar proteinosis, haemophagocytic lymphohistiocytosis and macrophage activation syndrome. Renal involvement is also a serious complication with tubular and more rarely, glomerular lesions that may lead to end-stage kidney disease (ESKD). We report six cases of LPI followed in three different French paediatric centres who presented LPI-related nephropathy during childhood. Four of them developed chronic kidney disease during follow-up, including one with ESKD. Five developed chronic tubulopathies and one a chronic glomerulonephritis. A histological pattern of membranoproliferative glomerulonephritis was first associated with a polyclonal immunoglobulin deposition, treated by immunosuppressive therapy. He then required a second kidney biopsy after a relapse of the nephrotic syndrome; the immunoglobulin deposition was then monoclonal (IgG1 kappa). This is the first observation of an evolution from a polyclonal to a monotypic immune glomerulonephritis. Immune dysfunction potentially attributable to nitric oxide overproduction secondary to arginine intracellular trapping is a debated complication in LPI. Our results suggest all LPI patients should be monitored for renal disease regularly.

[Neuroimaging in pediatric epilepsy]. / L'imagerie par résonance magnétique dans l'exploration des épilepsies de l'enfant.

The main causes of epilepsy in children are cortical malformations (hemimegalencephaly, cortical dysplasia, lissencephaly, etc.) and phakomatosis (tuberous sclerosis, Sturge-Weber disease, neurofibromatosis type 1, etc.), perinatal ischemia, traumatisms, infections, mesial temporal sclerosis, metabolic diseases, and tumors. Imaging indications are precise, including partial seizures and a pathological electroencephalogram. Twenty-five percent of these epilepsy cases are pharmacoresistant. Indeed, MRI is essential to consider surgical treatment, allowing one to localize potential epileptogenic anatomic lesions. The protocol includes sequences in three planes of space, weighted in T1, T2, Flair, T1 inversion-recovery, and T1 after gadolinium injection. MRI findings are characteristic for some tumors, but most malformations are subtle. Consequently recent techniques (spectroscopy, diffusion, etc.) are crucial when conventional MRI is not sufficient. The aim of this article is to illustrate, with a substantive image revue, this wide diversity of etiologies in pediatric epilepsy, in order to help the attendee recognize MRI findings, also discussing the role of newer imaging modalities in this field.

Impact of therapeutic hypothermia on MRI diffusion changes in neonatal encephalopathy.

OBJECTIVE: The objective of this work was to determine the impact of therapeutic hypothermia (TH) on the magnitude and time course of mean diffusivity (MD) changes following hypoxic-ischemic encephalopathy (HIE) in newborns. METHODS: Cerebral MRI scans of infants undergoing whole body TH for HIE from 2007 to 2010 were retrospectively reviewed. The data were analyzed identically to a control group of newborns with HIE previously published, prior to the development of TH. Anatomic injury was defined on T1- and T2-weighted ("late") MRI obtained after the fifth day of life. Since MD values vary regionally, the ratios of MD values for injured and normal tissue were calculated for areas of injury. Normal values were obtained from corresponding brain regions of 12 infants undergoing TH who had no injury on MRI studies. RESULTS: Twenty-three of 59 infants who underwent TH and MRI displayed cerebral injury on late MRI and were included in the study. MD ratios were decreased in all injured infants within the first 7 days of life. The return of MD to normal (pseudonormalization) occurred after the tenth day as compared to 6-8 days in the control group. Infants with severest injury demonstrated greater reduction in MD, but no difference in time to pseudonormalization. CONCLUSION: TH slows the evolution of diffusion abnormalities on MRI following HIE in term infants.

[Noninvasive mechanical ventilation in paediatric intensive care units: which indications in 2010?]. / Ventilation non invasive en réanimation pédiatrique : quelles indications en 2010 ?

Noninvasive ventilation (NVI) is increasingly used in paediatrics, although there is a high variety of practices and a paucity of published data in paediatrics. The last French consensus conference recognized a specific role of NVI for infants suffering from acute bronchiolitis with apnoea, and acute respiratory failure due to laryngotracheomalacia and cystic fibrosis. NVI is feasible and can be beneficial in paediatric acute respiratory failure during neuromuscular diseases. Like in adults, its place in other diseases such as acute bronchoalveolitis without apnoea, acute respiratory failure during neuromuscular diseases, status asthmaticus, acute respiratory distress syndrome (ARDS) and postextubation respiratory failure is growing, even though not always defined. All these adult recommendations have not been validated in the pediatric setting, and, thus, taking the paediatric characteristics into account is essential. In 2010, NVI had an important place in PICU, and must be managed by a trained team whose practice is regularly evaluated.

[Evaluation of the French neonatologists' attitude towards the birth of an infant at less than 26 weeks' gestation]. / Évaluation de l'attitude des néonatologues français face à la naissance d'un prématuré d'âge gestationnel inférieur à 26 semaines d'aménorrhée.

UNLABELLED: Resuscitation of infants who are born at the threshold of viability remains highly controversial. The purpose of our study was to evaluate the French neonatologists' attitude toward the birth of an infant at less than 26 weeks' gestation (WG). METHOD: This article reports the results of a survey sent by the Internet to one of the neonatologists in each of the NICUs in France. The answers showed the different attitudes at the time of the birth of an extremely premature infant born less than 26 WG. RESULTS: The respondents represented 57 % of the original sample. None resuscitates an infant born between 22 WG+0 days and 22 WG+6 days. During the 23rd WG, the majority answer (90 %) was "Resuscitation is never undertaken". During the 24th WG, the main answer (29 %) was "Resuscitation is undertaken if neonatal adaptation is sufficient". During the 25th WG, several answers were given, but only 6 % chose "Resuscitation is never undertaken". CONCLUSION: Analyzing the survey's answers indicates that the decision of whether to resuscitate these premature infants at the threshold of viability must be adjusted not only by gestational age, but also by many other factors.

[Management of the first nonfebrile seizure in infants and children]. / Conduite à tenir devant une première crise épileptique du nourrisson et de l'enfant.

Seizures are the most common pediatric neurologic disorder. This article describes the guidelines of the French Pediatric Neurology Society, highlighting the importance of a thorough history and examination. Paroxysmal nonepileptic events should be excluded. The role of biological and neuroradiological investigations is discussed. An electroencephalographic recording and advice from a pediatric neurologist are suggested.

[Continuous two channel electroencephalography: description, applications, benefits and pitfalls]. / L'EEG d'amplitude: description, applications, avantages et inconvénients.

Children, term and preterm newborn care require electrophysiologic investigations for seizure detection and therapeutic management or prognosis purposes. Amplitude-integrated electroencephalography (aEEG) offers an accessible by non expert, bedside continuous cerebral monitoring. A 2 year utilization of aEEG in a neonatal and paediatric intensive care unit is described as advantages and as pitfalls. Technical description and aEEG classifications for interpretation only available for term newborn are described. To obtain a performing utilization (technical and interpretation) it was necessary to have about 1 year of training including medical and paramedical formations. Our experience shows that this easy-to-use technique requires a careful management, a trained and vigilant staff notably electrophysiologist to avoid inappropriate conclusions. Finally, aEEG is very efficient but in complement of standard EEG.

Paroxysmal extreme pain disorder (previously familial rectal pain syndrome).

OBJECTIVE: To describe the clinical phenotype of paroxysmal extreme pain disorder (previously called familial rectal pain syndrome), an autosomal dominant condition recently shown to be a sodium channelopathy involving SCN9A. METHODS: An international consortium of clinicians, scientists, and affected families was formed. Clinical details of all accessible families worldwide were collected, including age at onset, features of attacks, problems between attacks, investigational results, treatments tried, and evolution over time. A validated pain questionnaire was completed by 14 affected individuals. RESULTS: Seventy-seven individuals from 15 families were identified. The onset of the disorder is in the neonatal period or infancy and persists throughout life. Autonomic manifestations predominate initially, with skin flushing in all and harlequin color change and tonic attacks in most. Dramatic syncopes with bradycardia and sometimes asystole are common. Later, the disorder is characterized by attacks of excruciating deep burning pain often in the rectal, ocular, or jaw areas, but also diffuse. Attacks are triggered by factors such as defecation, cold wind, eating, and emotion. Carbamazepine is effective in almost all who try it, but the response is often incomplete. CONCLUSIONS: Paroxysmal extreme pain disorder is a highly distinctive sodium channelopathy with incompletely carbamazepine-sensitive bouts of pain and sympathetic nervous system dysfunction. It is most likely to be misdiagnosed as epilepsy and, particularly in infancy, as hyperekplexia and reflex anoxic seizures.

[Bilateral frontal polymicrogyria and Ehlers-Danlos syndrome]. / Polymicrogyrie bifrontale et syndrome d'Ehlers-Danlos.

The authors describe the case of a six-year-old girl with Ehlers-Danlos syndrome associated to bilateral symmetrical frontal polymicrogyria. Several extracellular matrix components, including collagen, are directly implicated in the neuronal migration. We think that a defect in collagen or in another extracellular matrix protein during fetal development could result in this association.

[Indications of electroencephalogram in the newborn]. / Indications de l'électroencéphalogramme en période néonatale. Recommandations du groupe de neurophysiologie clinique de l'enfant.

The electroencephalogram (EEG), an easy-to-use and non invasive cerebral investigation, is a useful tool for diagnosis and early prognosis in newborn babies. In newborn full term babies manifesting abnormal clinical signs, EEG can point focal lesions or specific aetiology. EEG background activity and sleep organization have a high prognostic value. Tracings recorded over long period can detect seizures, with or without clinical manifestations, and differentiate them from paroxysmal non epileptic movements. The EEG should therefore be recorded at the beginning of the first symptoms, and if possible before any seizure treatment. When used as a neonatal prognostic tool, EEG background activity is classified as normal, abnormal (type A and type B discontinuous and hyperactive rapid tracing) or highly abnormal (inactive, paroxysmal, low voltage plus theta tracing). In such cases, the initial recording must be made between 12 and 48 h after birth, and then between 4 and 8 days of life. Severe EEG abnormalities before 12 h of life have no reliable prognostic value but may help in the choice of early neuroprotective treatment of acute cerebral hypoxia-ischemia. During presumed hypoxic-ischemic encephalopathy, unusual EEG patterns may indicate another diagnosis. In premature newborn babies (29-32 w GA) with neurological abnormalities, EEG use is the same as in term newborns. Without any neurological abnormal sign, EEG requirements depend on GA and the mother's or child's risk factors. Before 28 w GA, when looking for positive rolandic sharp waves (PRSW), EEG records are to be acquired systematically at D2-D3, D7-D8, 31-32 and 36 w GA. It is well known that numerous and persistent PRSW are related to periventricular leukomalacia (PVL) and indicate a bad prognosis. In babies born after 32 GA with clinically severe symptoms, an EEG should be performed before D7. Background activity, organization and maturation of the tracing are valuable diagnosis and prognosis indicators. These recommendations are designed (1) to get a maximum of precise informations from a limited number of tracings and (2) to standardize practices and thus facilitate comparisons and multicenter studies.

[Retinopathy of prematurity screening and follow-up with Retcam120: expertise of a team of neonatologists concerning 145 patients]. / Dépistage et suivi de la rétinopathie du prématuré par caméra de rétine (Retcam 120) : expérience d'une équipe de néonatalogistes à propos de 145 cas.

OBJECTIVES: The high incidence of retinopathy in very premature infants requires strict evaluation and follow-up in neonatal intensive care. The strict organization required in each center, under the responsibility of ophthalmologists, is sometimes puzzling. Therefore, we tested the hypothesis that the introduction of the Retcam allows the neonatologist under the control of ophthalmologist to diagnose retinopathy of prematurity then preventing sequelae, by comparison of pictures interpretations between neonatologists and ophthalmologists. METHODS: The Retcam gives a 120 degrees picture of the retina which is captured digitally. Then, the interpretation of the neonatologist can be reviewed by the ophthalmologist. We screened premature babies less than 32 weeks of gestation and less than 1500 g, during 1 year, including learning experience. We compared pictures interpretation by neonatologists and ophthalmologists of Retcam recordings. RESULTS: One hundred and forty-five patients were included. Eight cases of retinopathy were diagnosed with an exact correlation : 3 grade III in zone 2 form plus disease, 1 stage III zone 2 unilateral, 1 stage II in zone 3, 2 stage II en zone 2, 1 grade I zone 3 on at least 5 h contiguous. We had neither false positive, nor false negative. Five infants were treated without significant sequelae. CONCLUSIONS: Retcam 120 allows an easy diagnosis and follow-up for the retinopathy of prematurity by the neonatologist. We advocate to spread Retcam to the wards where the screening of retinopathy is difficult for the ophthalmology department. As every case requiring therapy is diagnosed, prevention of severe visual handicap is completed. The cost of this apparatus is equivalent to the cost of the care for a congenital blindness.

Acquired aqueductal stenosis in preterm infants: an indication for neuroendoscopic third ventriculostomy.

OBJECT: The object of this study is to demonstrate the delayed occurrence of aqueductal stenosis in preterm infants who have suffered from intraventricular hemorrhage (IVH) and to try to explain the mechanisms of this stenosis. METHOD: From January 1996 to June 2002, 1,046 premature infants were admitted to our institution. Thirty-six neonates suffered from grade 3 or 4 intraventricular hemorrhage (Papile grading), of whom 16 died. Twenty patients survived and a ventriculoperitoneal shunt was inserted in 7 infants. Four patients underwent a neuroendoscopic third ventriculostomy. Follow-up was carried out, twice a month during the first 2 months and subsequently twice a year. CONCLUSION: In 2 children NTV was an effective treatment for hydrocephalus with an average follow-up of 29 months. The specific pattern concerning these patients is the long delay before obstructive hydrocephalus and the visualization of de novo obstruction with MRI. The biological explanation must be investigated.

[Cutaneous aplasia, non compaction of the left ventricle and severe cardiac arrhythmia: a new case of MLS syndrome (microphtalmia with linear skin defects)]. / Aplasie cutanée congénitale, défaut de compaction du ventricule gauche et troubles du rythme cardiaque graves : un nouveau cas de syndrome MLS (microphtalmia with linear skin defects).

A female neonate presented with cutaneous aplasia located to the face and the neck associated with a non compaction of the left ventricle leading to the diagnosis of MLS syndrome (microphtalmia with linear skin defects). The follow-up was complicated by life-threatening cardiac arrhythmia underlying prevention by an early diagnosis and adequate care. MLS syndrome and non compaction of myocardium are both located on X chromosome.