Childhood-onset narcolepsy, obesity and puberty in four consecutive children: a close temporal link.

Narcolepsy is a rare but disabling condition that causes excessive daytime sleepiness. Interestingly, weight gain is frequent in patients with narcolepsy and it has sometimes been described very early in the course of the disease. Here, we report four consecutive obese children who were referred to our sleep laboratory for excessive daytime sleepiness and suspected sleep apnoea syndrome. They underwent nocturnal polysomnography associated with multiple sleep latency tests. Narcolepsy was diagnosed in all children with a close temporal link between the onset of narcolepsy, obesity and puberty. Scientifically, the relationship between sleep, weight, growth rate and puberty onset is striking and merits further investigation. From the clinical point of view, narcolepsy must be investigated in obese sleepy children along with obstructive sleep apnoea. Indeed, it can be controlled with appropriate treatment but the proper diagnosis relies not only upon nocturnal polysomnography but involves the systematic use of multiple sleep latency tests.

Treatments for pediatric achalasia: Heller myotomy or pneumatic dilatation?

AIM: The treatment of achalasia consists of reducing distal esophageal obstruction by either Heller myotomy surgery or endoscopic pneumatic dilatation. The aim of the present study was to evaluate the short- and middle-term results of these procedures in children. METHODOLOGY: For technical reasons, children under six years old (n=8) were treated by surgery only, whereas patients over six years old (n=14) were treated by either Heller myotomy or pneumatic dilatation. RESULTS: Of the children aged under six years, 75% were symptom-free at six months and 83% at 24 months of follow-up. Of the patients aged over six years, complete remission was achieved by Heller myotomy in 44.5% vs. 55.5% by pneumatic dilatation after six months, and in 40% vs. 65%, respectively, after 24 months. Both pneumatic dilatation and Heller myotomy showed significant rates of failure. CONCLUSION: These results suggest that pneumatic dilatation may be considered a primary treatment in children over six years old. Also, where necessary, Heller myotomy and pneumatic dilatation may be used as complementary treatments.

[Use of midazolam for refractory status epilepticus in children]. / Utilisation du midazolam dans l'état de mal épileptique réfractaire de l'enfant.

UNLABELLED: Morbidity and mortality are high in children with refractory status epilepticus (RSE). Here, we assess the efficacy of midazolam for RSE in children. METHODS: This was a retrospective analysis of 29 children admitted to the Lille University Hospital pediatric intensive care unit (PICU) for RSE between May 2006 and July 2008. The onset of the study corresponded with a new therapeutic protocol applied in the PICU for RSE where midazolam was proposed as the first-line treatment (bolus ten continuous infusion until control) to be replaced by thiopenthal in case of failure. RESULTS: We recorded 29 patients with RSE during the study period: 26 were treated with midazolam, including two where midazolam replaced thiopenthal because of hypotension. Midazolam successfully controlled RSE in 58% of patients. Mean delay to cessation of RSE was 48+/-65 minutes. Hypotension was observed in 8% of midazolam-treated patients and 71% of thiopenthal-treated patients. Overall mortality was 15% (4/26). Two deaths occurred long after the cessation of RSE. None of the deaths occurred in midazolam-treated patients. CONCLUSION: Midazolam is an efficient treatment for RSE in children. Morbidity and mortality appear to be lower with midazolam compared with other antiepileptic drugs used for the treatment of RSE.

[Encopresis revealing myotonic dystrophy in 2 children]. / Encoprésie révélatrice d'une dystrophie myotonique de Steinert : à propos de 2 observations.

Gastrointestinal symptoms are very frequent in myotonic dystrophy but largely unrecognized. They can be the revealing factors of the disease. We report 2 cases of 10 and 17-year-old children with persistent encopresis starting at the age of 3 and 5 years in spite of laxative treatment. Neurological examination and anorectal manometry provided the diagnosis of myotonic dystrophy. Procainamide treatment was introduced and the digestive symptoms improved. Any child with encopresis should have complete evaluation to rule out the diagnosis of myotonic dystrophy and physicians should look for upper and/or lower gastrointestinal symptoms in every patient with myotonic dystrophy.

[Myoclonic astatic seizures in a child with Sturge-Weber syndrome]. / Crises myoclonoastatiques chez un patient présentant un syndrome de Sturge-Weber.

INTRODUCTION: Sturge-Weber syndrome is a neurocutaneous disease associating facial and pial angioma. Focal epilepsy is a common sign. In a few cases, generalized seizures have been reported. CASE REPORT: We report on a four-year-old girl with Sturge-Weber syndrome. The first focal seizures occurred at three years of age. She developed refractory status epilepticus. At discharge from the PICU, she was on a ketogenic diet and received three antiepileptic drugs. No seizures were observed for four months. The patient then developed several types of seizures: myoclonic seizures, focal clonic seizures, and sudden falls. We were unable to determine the etiology of the falls. Typical myoclonic astatic seizures were identified on video-electroencephalographic recordings. CONCLUSION: Seizures in Sturge-Weber syndrome are usually focal. Four patients with Sturge-Weber syndrome and myoclonoastatic seizures are reported in the literature. We discuss the pathophysiological mechanisms leading from a focal lesion to generalized myoclonoastatic seizures.

Evaluation of the efficacy of tongue-lip adhesion in Pierre Robin sequence.

OBJECTIVE: Tongue-lip adhesion may be used to relieve obstructive sleep apnoea in infants with Pierre Robin sequence (PRS), but only a few studies have objectively evaluated its efficacy. The purpose of this study was to evaluate the results of tongue-lip adhesion by polysomnography. MATERIEL AND METHODS: A single-centre retrospective study was conducted in infants with PRS treated by tongue-lip adhesion from 2004 to 2015, in whom at least laryngotracheal endoscopy and polysomnography were performed. The variables collected were the syndromic diagnosis, demographic data, respiratory management before tongue-lip adhesion, symptoms, and additional airway interventions. Obstructive sleep apnoea was classified into 3 groups according to severity. Polysomnography was performed one month after tongue-lip adhesion. Statistical analysis was performed with Wilcoxon signed-rank test with a limit of statistical significance of P<0.005. RESULTS: Thirty-seven subjects in whom tongue-lip adhesion was performed at a mean age of 45 days (8 to 210 days) were included. Thirty-one patients had isolated PRS and 6 patients had associated anomalies. All patients had confirmed severe obstructive sleep apnoea. All patients required respiratory support prior to surgery: 8 intubated patients, 15 patients with noninvasive ventilation and 14 patients with nasopharyngeal airways. Eight patients had bradycardia before tongue-lip adhesion. All parameters were improved on postoperative polysomnography: oxygen saturation, hypercapnia, apnoea-hypopnoea index, bradycardia (P<0.005). Only 8 patients had persistent severe obstructive sleep apnoea and required tracheostomy (n=5) or noninvasive ventilation (n=3). No significant correlation was observed between treatment success and any predictive variables. CONCLUSION: Tongue-lip adhesion improved airway obstruction in all infants with PRS and resolved obstructive sleep apnoea in 29 patients. However, 8 patients required additional airway interventions.

[Pathological patterns in neonatal EEG before 30 weeks of gestational age]. / Les aspects pathologiques de l'EEG du nouveau-né prématuré avant 30 semaines d'âge postmenstruel.

Pathological features on very premature EEG concern background abnormalities and abnormal patterns. Positive rolandic sharp waves keep an important place regarding diagnosis and prognosis. Background abnormalities give essential complementary informations. Unusual patterns (abnormal localisation or morphological aspect, high amplitude) remain early markers of cerebral lesions. Analysis of these pathological features must always take into account treatment given to the baby, which can by itself modify the EEG.

Pathological features of neonatal EEG in preterm babies born before 30 weeks of gestationnal age.

Pathological features on very premature EEG concern background abnormalities and abnormal ictal and nonictal patterns. Positive rolandic sharp waves keep an important place regarding diagnosis and prognosis of white-matter lesions. Background abnormalities, that may be classified as acute-stage or chronic-stage abnormalities, give essential complementary information. These abnormal patterns remain precocious markers of cerebral lesions and are complementary to cerebral imaging. Analysis of these abnormalities has always to take into account medication received by the baby during the recording and that could modify the EEG.

[Obstructive sleep apnea-hypopnea syndrome in children: Clinical diagnosis]. / Diagnostic clinique du syndrome d'apnées obstructives du sommeil de l'enfant.

The French Society of Research and Sleep Medicine (SFRMS) organized a meeting on obstructive sleep apnea syndrome (OSAS) in children. A multidisciplinary group of specialists (pulmonologist, ENT surgeons, pediatricians, orofacial myofunctional therapists, neurophysiologists, and sleep specialists) reached a consensus on the value of isolated or clustered clinical symptoms and of questionnaires completed by parents in the clinical diagnosis and in assessing the severity of OSAS. Are clinical history with validated questionnaires and a rigorous physical examination sufficient to suspect OSAS, to appreciate its severity, and finally to confirm the diagnosis? Usually, a sleep recording of respiratory parameters remains mandatory for the diagnosis of OSAS to be made. However, clinical symptoms are very useful for estimating the probability of the diagnosis and the severity of the disease, and therefore for classifying which children will benefit form polysomnography and for proposing an adapted follow-up after OSAS therapy. Even if they are not able to ascertain the diagnosis of OSAS in children, clinical history, questionnaires, and physical examination are very important. Finally, we propose a classification of the indications for polysomnography in children suspected of having OSAS.

EEG in the neonatal unit.

The execution and interpretation of neonatal EEG adheres to strict and specific criteria related to this very early age. In preterm newborns, the dedicated healthcare staff needs to respect EEG indications and chronology of EEG recordings in order to diagnose and manage various pathologies, and use EEG in addition to cerebral imaging. EEG analysis focuses on a global vision of the recording according to the neonate's state of alertness and various age-related patterns. Monitoring of continuous conventional EEG and simplified EEG signal processing can help screen for seizures and monitor the effect of antiepileptic treatment, as well as appreciating changes in EEG background activity, for diagnostic and prognostic purposes. EEG reports should be highly explanatory to meet the expectations of the physician's clinical request.

French recommendations on electroencephalography.

Electroencephalography allows the functional analysis of electrical brain cortical activity and is the gold standard for analyzing electrophysiological processes involved in epilepsy but also in several other dysfunctions of the central nervous system. Morphological imaging yields complementary data, yet it cannot replace the essential functional analysis tool that is EEG. Furthermore, EEG has the great advantage of being non-invasive, easy to perform and allows repeat testing when follow-up is necessary, even at the patient's bedside. Faced with advances in knowledge, techniques and indications, the Société de neurophysiologie clinique de langue française (SNCLF) and the Ligue française contre l'épilepsie (LFCE) found it necessary to provide an update on EEG recommendations. This article will review the methodology applied to this work, refine the various topics detailed in the following chapters. It will go over the summary of recommendations for each of these chapters and highlight proposals for writing an EEG report. Some questions could not be answered by review of the literature; in such cases, in addition to the guidelines the working and reading groups provided their expert opinion.

EEG guidelines in the diagnosis of brain death.

In France, for the determination and diagnostic validation of brain death the law requires either two EEG recordings separated by a 4-hour observation period, both showing electrocerebral inactivity; or cerebral angiography examination. Since EEG is available in most hospitals and clinics, it is often used in this indication, at the patient's bedside, especially in the context of organ donation. However, very precise methodology must be followed. The last French guidelines date back to 1989, before the development of digital EEG recording. We present the new guidelines from the Société de Neurophysiologie Clinique de Langue Française. Electrocerebral inactivity may be confirmed when a 30-minute good quality EEG recording shows complete electrocerebral silence, defined as no cerebral activity greater than 2 uV, having first ruled out the possible influence of sedative drugs, metabolic disorders or hypothermia. In the presence of sedative drugs, CT brain angiography will be the gold standard test for this diagnosis. In the newborn, the utmost caution is indicated since electrocerebral inactivity can be observed in the absence of cerebral death. In the infant, the criterion for the observation period to be respected between both EEG recordings needs to be more clearly refined.

EEG in children, in the laboratory or at the patient's bedside.

In pediatrics, EEG recordings are performed on patients from the neonatal period up to young adults. This means adapting techniques to many different conditions, concerning not only the patient's age, the need for asepsis and the patient's behavior, but also the environment (e.g. in the laboratory, at the patient's bedside, or in the neonatal intensive care unit [NICU]). Technical requirements depend on age, indication and the type of examination; in infancy, there should be a minimum of 12 EEG electrodes, ECG and respiration recording. In epileptology, surface EMG is also necessary to characterize the type of seizures and refine the diagnosis of epilepsy syndrome, on which physicians will base their treatment choice. The role of the EEG technician is essential because the quality of the recording, its analysis and conclusion will depend on the quality of the technical set-up and the interaction with the child. Sleep is a systematic part of the study up to the age of 5 years for several reasons: sleep EEG yields information on brain maturation; the EEG tracing during wakefulness can contain too many artefacts; and some grapho-elements, key to the diagnosis, only appear during sleep. The time of the examination must be chosen according to the child's usual nap times, possibly after sleep deprivation. Grapho-elements and spatio-temporal organization of the EEG vary with age, and normal variants and unusual aspects are quite wide for any given age; this is why a physician experienced in pediatric EEG should perform the interpretation. This chapter concerns EEG performed in infants, children and adolescents, its technical aspects according to age and indications (general pediatrics, emergency, epilepsy).

[Indications for emergency EEG in perinatal pain]. / Indications urgentes de l'EEG dans la souffrance périnatale.

EEG is a basic tool in neurological evaluation of fullterm or premature newborn. An emergency recording (in hours following birth) is required in two circumstances: a suspicion of seizure (especially before starting specific therapy), and a major behavioral disorder. The main cause is, in fullterm newborn, hypoxic-ischemic encephalopathy. More precise informations are provided by recording between 10 and 48 hours after birth. In premature, emergency EEG may be recorded between 24 and 48 hours after birth. Some particular EEG features suggest specific causes such as metabolic or infectious diseases and focal lesions. In some cases, especially during seizures, conventional EEG can be completed by continuous monitoring.

[Hypoxic-ischemic encephalopathy of the full term newborn. Contribution of the electroencephalogram and trans-fontanelle echography to the prognostic evaluation. Report of 29 cases]. / Encéphalopathie anoxo-ischémique du nouveau-né à terme. Apport de l'électroencéphalogramme et de l'échographie transfontanellaire à l'évaluation pronostique. A propos de 29 observations.

This study was aimed at assessing by EEG recording and cranial imaging the cerebral function of 29 full term newborns presenting with hypoxic-ischemic encephalopathy and at establishing a correlation between the results and the neurological outcome. A correlation between the Sarnar's classification and the neurological outcome was observed, except for the intermediate grade. In this case, impairment of the EEG was variable and neurological prognosis was sometimes evidenced by cranial imaging. Unfavorable neurological outcome occurred when thalamic lesions were present, independently of clinical signs and EEG abnormalities.

[Electroencephalography of the premature and term newborn. Maturational aspects and glossary]. / Electroencéphalographie du nouveau-né prématuré et à terme. Aspects maturatifs et glossaire.

From the first publication of C. Dreyfus-Brisac and N. Monod, a strong tradition combined with tremendous development of neonatal EEG has taken place in France. After 3 years of collaborative work, 12 clinical neurophysiologists trained at the Port-Royal medical school in Paris detail in this paper the currently available neonatal EEG recording techniques. They have synthesized the criteria of maturational state analysis and have defined the normal and pathological neonatal EEG patterns, including descriptions already present in the French as well as the English literature. In this review one may find a complete description of neonatal EEG patterns according to the states of vigilance and to gestational age. Furthermore, definitions of all normal and pathological patterns are provided in a glossary. Both chapters are illustrated by numerous figures. This detailed terminology in neonatal EEG should allow a better homogeneity in EEG reports, and could lead to multicentric studies on normal, unusual or pathological patterns, according to etiology. Although based on analogic EEG data, this work can equally be applied to digitized EEG tracings.

Incontinence and constipation after low anorectal malformations in a boy.

BACKGROUND: Low anorectal malformations are considered to be a benign type of anorectal malformations. Their treatment is simple in the neonatal period and gives good results as far continence is concerned. METHODS: We studied a group of 55 boys with low anorectal malformations which had been surgically treated between the 1st January 1975 and the 31st December 1992. We studied the initial treatment and the associated anomalies, 5 patients have died. 27 were seen for an interview and a clinical examination. Extra investigations (anorectal manometry or electromyography of external sphincter) were only offered to consenting patients with an ongoing problem. RESULTS: 3 to 20 years had passed since their operations. Associated anomalies had been found in 11 children. The initial treatment was a perineal procedure in 20 cases and a colostomy in 8 cases. Dilatations were carried out on 11 children. Faecal and urinary continence had been acquired before 30 months of age. 13 children (48%) had problems of soiling and/or chronic constipation. There was no difference between these children and the 14 continent ones regarding the type of malformation, the initial treatment and the follow-up. Anorectal manometry (performed on 9 cases) showed 4 anorectal dyssynergies. It was normal in 3 cases. The Recto Anal Inhibitory Reflex was always present. CONCLUSION: Problems of continence are not rare in the evolution of low anorectal malformations. We suggest therefore a long-term clinical follow-up for those children, with one anorectal manometry control being performed after continence is acquired.

Reconstruction of the perineal body after recurrence of a recto-perineal fistula in an intermediate type of anorectal malformation in a young woman.

The appearance of a recto-perineal fistula post-operatively in an intermediate type of anorectal malformation is rare. It always gives rise to incontinence. However, the closure of this fistula is particularly difficult since recurrence is frequent. The following case report concerns a patient who after several unsuccessful attempts to close the fistula, had a local rotation flap which permitted good healing and a beneficial effect on continence thanks to a good reconstruction of the perineal body.

[Functional and motor study of retrosternal esophageal plasties]. / Etude fonctionnelle et motrice des plasties oesophagiennes rétrosternales.

The stomach may be used for esophageal reconstruction after resection of esophageal cancers. The aim of this study was to assess the motility of retrosternal esophagoplasty (RO) following the Akiyama procedure in 6 men (mean age: 56.7 years), at least two months after surgery by means of two techniques: a) manometry of the transplant with a multilumen perfused catheter in 50 and 40 cm from the incisor teeth including spontaneous (5 min) and poststimulation recordings, b) an isotopic method for assessing the gastric emptying of a meal labelled with 111In for the liquid phase and with 99mTc for the solid phase, compared to 12 volunteers as controls. Baseline pressure was 11.2 +/- 2.4 H2O cm without spontaneous activity. After dry and wet deglutition (5 ml of water), 6 patients showed synchronous rise in pressure, having mean amplitude of 12.7 +/- 2.3 cm H2O and lasting 4.3 +/- 1.2 s. Liquids T1/2 was 16.2 +/- 7.8 min in controls (p less than 0.01) and solids T1/2 was 17.7 +/- 6.4 min vs 61.7 +/- 16.5 min (p less than 0.001). The lack of propagated activity associated with rapid emptying of the meal through the plasty with no discrimination between solids and liquids suggests that RO does not participate actively in digestion.

[Childhood epilepsy syndromes and diseases]. / Les syndromes et maladies épileptiques de l'enfant.

The classification of seizures and epileptics syndromes made it possible on the prognostic level to differentiate the benign epilepsies and the serious epilepsies. In children, several concepts are to be considered for a better comprehension of the specificity of the epilepsies related to this age of the life: synaptogenesis, receptors ontogenesis and ionic channels, myelinogenesis, epigenesis. Epilepsy is often associated with cognitive disorders and behaviour disorders in children. The relations between cognitive functions and epilepsy are multifactorial with intrication of neurodevelopmental, environmental and psychogenic factors. Identification of epileptic syndromes genetically determined and genetic diseases becoming complicated by epilepsy, allow a complementary approach in the comprehension and diagnosis of childhood epilepsy.