[Infants poisoned with cannabis]. / L'intoxication au cannabis chez le nourrisson.

We reported three cases of infants poisoned with cannabis. These patients presented with acute neurological disorders such as drowsiness accompanied by hypotonia, mydriasis and seizure. Cannabis was found in all children either in the urine or in the blood. These cases illustrated that young age should not exclude toxicologic analysis in acute neurological disorders. Cannabis poisoning in infants is a rare reason for consultation. Clinical signs and symptoms are unspecific and severe manifesta- tions in pediatric age are not well known by emergency physicians and paediatricians.

Nous rapportons trois cas de nourrissons intoxiqués au cannabis. Ces patients s'étaient présentés avec des troubles aigus du comportement de type somnolence accompagnés d'hypotonie, de mydriase et de convulsions pour l'un d'eux. Du cannabis était présent soit dans les urines soit dans le sang dans les trois cas. Ces cas illustrent que le jeune âge ne doit pas exclure la recherche de toxiques dans les mises au point de troubles neurologiques aigus. L'intoxication au cannabis du nourrisson est un motif rare de consultation. La clinique est aspécifique et les manifestations sévères plus fréquentes à l'âge pédiatrique sont peu connues.

[Shaken baby syndrome]. / Le syndrome du bébé secoué.

Nearly all non accidental head injuries of children are shaken baby syndromes. The non accidental head trauma refers to a traumatic encephalopathy inflicted by an adult to a child. The syndrome combines subdural haematoma, retinal haemorrhages and absence of any external lesion. The mortality and morbidity rates of the SBS are high and the SBS is the main cause of death in hospitals handling child abuse. The incidence is not well-known and most probably underestimated. Numerous risk factors linked to the aggressor, to the victim and to the factual context have been identified. The diagnosis remains difficult to make, mainly due to the absence of reliable anamnesis in a majority of cases. It should be envisaged for all infants presenting unexplained acute encephalopathy. Imagery and ophthalmologic examination are the first examinations that are required to make such diagnosis. A cerebral RMI allowed for important progress both on the level of the diagnosis and the prognosis as well as on the level of the understanding of lesions. The physiopathogeny of this syndrome has considerably progressed in recent years which raise promising prospects for therapy. The treatment of babies with SBS requires highly competent teams including paediatric neurosurgeons but also teams specialised in child abuse which can quickly take care of the families. In view of the seriousness of the problem, several communication campaigns directed to young parents and the public have been organized recently in several countries among which Belgium.

Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency.

The cardiofaciocutaneous (CFC) syndrome is characterized by congenital heart defect, developmental delay, peculiar facial appearance with bitemporal constriction, prominent forehead, downslanting palpebral fissures, curly sparse hair and abnormalities of the skin. CFC syndrome phenotypically overlaps with Noonan and Costello syndromes. Mutations of several genes (PTPN11, HRAS, KRAS, BRAF, MEK1 and MEK2), involved in the mitogen-activated protein kinase (MAPK) pathway, have been identified in CFC-Costello-Noonan patients. Coenzyme Q10 (CoQ10), a lipophilic molecule present in all cell membranes, functions as an electron carrier in the mitochondrial respiratory chain, where it transports electrons from complexes I and II to complex III. CoQ10 deficiency is a rare treatable mitochondrial disorder with various neurological (cerebellar ataxia, myopathy, epilepsy, mental retardation) and extraneurological (cardiomyopathy, nephropathy) signs that are responsive to CoQ10 supplementation. We report the case of a 4-year-old girl who presented a CFC syndrome, confirmed by the presence of a pathogenic R257Q BRAF gene mutation, together with a muscular CoQ10 deficiency. Her psychomotor development was severely impaired, hindered by muscular hypotonia and ataxia, both improving remarkably after CoQ10 treatment. This case suggests that there is a functional connection between the MAPK pathway and the mitochondria. This could be through the phosphorylation of a nuclear receptor essential for CoQ10 biosynthesis. Another hypothesis is that K-Ras, one of the proteins composing the MAPK pathway, might be recruited into the mitochondria to promote apoptosis. This case highlights that CoQ10 might contribute to the pathogenesis of CFC syndrome.

[Medical aspects of child abuse]. / Les aspects médicaux de la maltraitance en pédiatrie.

For the most adequate management of child abuse a multidisciplinary approach is essential. The paediatrician's role is to collect a complete and careful description of the physical lesions and to conduct a full clinical examination including a precise description of all injuries. Investigations such as skeletal X-rays often provide supportive evidence for the diagnosis. Some lesions are typically associated with nonaccidental injury (NAI). In this paper characteristics of injuries classically observed in child abuse are described.

Naso-oesophageal probes decrease the frequency of sleep apnoeas in infants.

The objective of the study was to determine whether a naso-oesophageal probe modifies sleep and cardiorespiratory patterns in infants with repeated obstructive apnoeas. Two polygraphic recording sessions were conducted in random order for 2 nights on 35 infants suspected to have repeated obstructive sleep apnoeas. One sleep study was performed with a pH probe inserted through the nasal passage down to the distal portion of the oesophagus. The other session was conducted without any naso-oesophageal probe (the baseline study). For the 25 infants who presented repeated obstructive apnoeas during baseline studies, the presence of the probe was associated with a small, but significant, decrease in the number of central apnoeas (median frequency of 18.5 apnoeas per hour without a probe; 16.1 per hour with the probe; P=0.040), and obstructive apnoeas (median of 1.9 apnoeas per hour without a probe; 0.6 per hour with the probe; P=0.016). The presence of the probe was also associated with a small increase in percentage non-rapid eye movement (NREM) sleep frequency. The changes were statistically significant only for infants who had no obstructive apnoea during baseline studies (29 vs. 31%). The presence of a naso-oesophageal probe significantly modifies the infants' respiratory characteristics during sleep. These findings should be considered when reporting and interpreting sleep studies in infants.

Decreased growth hormone response to glucagon in infants after an apnea of infancy.

We studied glucagon-induced growth hormone secretion in 9 patients with apnea of infancy and in 55 siblings of children who had died of sudden infant death syndrome, who were included as a comparison group. We observed a 33% decrease in growth hormone secretion in patients with apnea of infancy. However, linear growth remained normal. This finding could be related to either repeated episodes of hypoxia or to abnormal maturation of the autonomous nervous system.

Glucose, growth hormone, cortisol, and insulin responses to glucagon injection in normal infants, aged 0.5-12 months.

We performed glucagon stimulation tests in 59 normally growing siblings of children who died from sudden infant death syndrome. These investigations were performed to exclude a possible metabolic disorder (found in 4 siblings) as an underlying cause of sudden infant death syndrome. The remaining 55 siblings (32 boys and 23 girls) provide control data for this age range. Testing was performed at 0800 h after a 15-h fast. The median age was 98 days (range, 13-349 days). Plasma glucose and serum cortisol, insulin, and GH were determined before and 30, 60, 90, 120, 150, and 180 min after im injection of 0.1 mg/kg glucagon. No side-effects were observed during the procedure. Asymptomatic hypoglycemia was noted in 11% of the infants at least once between 120-180 min. Basal and peak GH concentrations were greater than 10 micrograms/L in 31% and 80% of the infants, respectively. There was a significant negative correlation between age and basal GH concentration [Spearman's rank correlation coefficient (rs) = -0.37; P < 0.01]. There was a significant correlation between age and glucagon-stimulated cortisol at 120, 150, and 180 min (rs) = 0.41; P < 0.005), but not between age and changes in glucose levels. There was no significant correlation between age and basal cortisol or peak GH concentrations and no difference between boys and girls for any of the variables studied. In conclusion, the glucagon stimulation test is well tolerated in very young subjects. The peak GH response to glucagon injection is independent of age between 0.5-12 months. The age-related increase in the glucagon-stimulated cortisol response despite a similar decrease in glucose suggests the existence of a postnatal maturation in the response of the pituitary-adrenal axis to stress.

Reduction in obstructive breathing events during body rocking: a controlled polygraphic study in preterm and full-term infants.

OBJECTIVE: To investigate the effect of body rocking on infant respiratory behavior during sleep. METHODS: Eighteen infants with documented obstructive sleep apneas were studied. There were eight premature infants with persistent bradycardias and 10 infants born full-term, admitted after an idiopathic apparent life-threatening event. No cause for the obstructive apneas was found. The infants were recorded with polygraphic techniques during two successive nights. They were randomly assigned to a rocking or a nonrocking mattress. The conditions were reversed the following night, in a crossover design. RESULTS: In both groups of infants, no significant difference was seen between the two consecutive nights for most of the variables studied: total sleep time, the proportion of non-rapid-eye-movement and rapid-eye-movement sleep, the number of arousals, the number and maximal duration of central apneas, the frequency of periodic breathing, the level of oxygen saturation, and heart rate. During the nonrocking nights, all infants had repeated obstructive breathing events. In seven of the eight preterm infants and in nine of the 10 full-term subjects, body rocking was associated with a significant decrease in the frequency of obstructive events. During rocking, in the preterm infants the obstructions fell from a median of 2.5 to 1.8 episodes per hour (P = .034). In the full-term infants, rocking reduced the obstructive events from a median of 1.5 obstructions per hour to 0.7 (P = .005). No difference was seen for the duration of the obstructive episodes. CONCLUSION: In preterm and full-term infants prone to obstructive sleep apneas, gentle side-to-side body rocking is associated with a significant decrease in the frequency of upper-airway obstructions.

Polygraphic evaluation of night-to-night variability in sleep characteristics and apneas in infants.

The study was designed to evaluate whether results of a single overnight recording session are sufficient for the study of sleep profiles and detection of apneas in infants, or whether it would be beneficial to extend the recording period. Nineteen infants were recorded during successive nights. Eight of the 19 infants were studied after an idiopathic apparent life-threatening event, whereas the other 11 were healthy. There were 13 boys and six girls, with a median age of 11 weeks (range 5-36 weeks). All infants were recorded polygraphically during 2 nights, and 11 were recorded during 3 successive nights. No significant difference was observed between any of the following variables, regardless of the number of nights for which the recording was performed: total recording time, total sleep time, delay in sleep onset, time awake, percent of rapid eye movement or nonrapid eye movement sleep, mean respiratory rates, density and duration of central, obstructive or mixed apneas. The frequency of obstructed breathing events for each infant did not differ significantly from 1 night to the next. The present study indicates that under adequate study conditions, recordings of a single night can reliably describe the frequency of central and obstructive apneas in infants.

Prenatal exposure to cigarettes in infants with obstructive sleep apneas.

OBJECTIVE: To investigate the effect of prenatal smoking on infant respiratory behavior during sleep. METHODS: A questionnaire concerning family habits and infants' history was completed for 550 healthy infants before a 9-hour night polysomnographic study. Because the data for 41 infants were not available for analysis, 509 subjects were studied: 115 were newborns evaluated within 1 week after birth, and 394 were healthy infants admitted at 11 weeks of life (range 5 to 29 weeks) after various research protocols. RESULTS: According to the smoking frequency of the mothers during pregnancy, the subjects were defined as "nonsmokers" (no cigarette smoked during pregnancy; n = 400), "light smokers" (1 to 9 cigarettes per day; n = 37), or "smokers" (10 or more cigarettes per day; n = 72). Compared with nonsmokers and light smokers, "smoking" mothers had a significant increase in the number of episodes of uterine bleeding during the pregnancy. Their infants had lower birth weights and more frequent episodes of profuse sweating during sleep. Infants of smokers also had more frequent and longer obstructive sleep apneas than those of the two other groups. For infants of smokers the relative risk for obstructive apneas was 2.76 (95% confidence interval: 1.63 to 4.69; P = .001). The relation between prenatal smoking and postnatal manifestation of obstructive sleep apneas demonstrated a dose-response pattern. Paternal smoking during pregnancy increased the risk of obstructive apneas only in the infants of smoking mothers, but not in those of the two other groups. Maternal smoking after birth did not add significantly to the risk of obstructive apneas. The effect of smoking was seen in older infants, as well as in the newborn not yet exposed to ambient cigarette smoke. A stepwise logistic regression, using obstructive sleep apneas as the dependent variable identified three significant independent variables: smoking during pregnancy (P = .001), profuse sweating during sleep (P = .001), and birth weight (P = .010). No explanation was found for the effect of prenatal smoking on obstructive sleep apneas. CONCLUSION: Prenatal smoking by mothers correlated with an increase in frequency and length of obstructive apneas and a decrease in birth weight of their infants. The infants were under greater risk for obstructive apnea if both parents smoked. Explanations for our results are unknown to us, but these findings may be of interest in the study of infant breathing behavior and epidemiological characteristics of sudden infant death syndrome.

Mechanisms of obstructive sleep apneas in infants.

During sleep, infants with obstructive sleep apneas are characterised by snoring, laborious breathing, and profuse sweating. During wakefulness, they may have breath-holding spells, and during feeding, difficult breathing and swallowing coordination. Abnormal weight, difficult growth, and recurring ear infections may also develop. During sleep apneas, cinefluoroscopy shows approximation of tongue and hypopharyngeal tissues, with an obliteration of the air space. The obstructed breaths occur mainly in REM, and light NREM sleep, associated with total short sleep time, and frequent arousals. Preterm infants, and term neonates are more prone to obstructive apneas than older healthy infants. Apneas are more frequently seen in boys and in case of excess in body weight. Obstructive apneas are frequently associated with upper airway anatomic abnormalities: malformations, soft tissue infiltration, and neurologic lesions impairing muscle contractions. Alterations of the autonomic nervous control may induce airways obstructions. Contributing factors include mucopolysaccharide storage disease, hypothyroidism, or Down's syndrome. Superimposed factors may occur, such as nasal obstruction, secretions in the airways, or tissue edema. Pressure- and chemo-sensitive reflexes may also favor obstruction. Environmental factors also contribute to the development of sleep apneas: body position, neck flexion, sleep deprivation, or the effects of sedative drugs.

Clinical symptoms associated with brief obstructive sleep apnea in normal infants.

Relatively little data exist concerning the manifestations of repeated obstructive sleep apnea in normal infants. A questionnaire concerning daytime and sleep habits was completed by the parents of 4,100 healthy infants before they underwent a 9-hour night monitoring study. One hundred infants with an obstructive apnea index above 1.2 were randomly selected. They formed the "apnea" group. From the initial population, 300 infants with no apnea were also selected to form the "no-apnea" group. Both groups were matched for sex, gestational age, post conceptional age, birth weight, mother's age, parity and a family history of sudden infant death. Five variables from the questionnaires significantly differentiated the two groups of infants. When awake, the infants with apnea were characterized by a greater frequency of breathholding spells (22% of apnea infants) and episodes of fatigue during feeding (28%) than the non-apnea infants. During sleep, they exhibited a greater frequency of profuse sweating (15%), snoring (26%) or noisy breathing (44%). Multiple symptoms were present in some infants. A stepwise logistic regression resulted in two significant independent variables: profuse sweating during sleep (p = 0.008) and noisy breathing (p = 0.002). The predictive value of these two symptoms was tested on a new group of 650 healthy infants. The two independent variables led to the correct classification of 60 of the 67 infants with apnea (89.67%) and 382 of the 583 non-apnea infants (65.5%). A positive history alone had a positive predictive value of 0.21.(ABSTRACT TRUNCATED AT 250 WORDS)

Prone or supine body position and sleep characteristics in infants.

OBJECTIVE: To evaluate the potential relation between body position and sleep characteristics in normal infants. PATIENTS: Two groups of 3-month-old healthy infants were evaluated: 40 infants who usually slept supine, and 40 who usually slept prone. The two groups were matched for gender, gestational age, postnatal age, birth weight, and total recording time. RECORDING TECHNIQUES: The 80 infants were studied polygraphically during one night in the pediatric sleep laboratory. They were allowed to fall asleep in their usual sleep position, and every 3 hours were gently turned from prone to supine, or from supine to prone. RESULTS: In each group, 6 infants were excluded from the analysis, because they woke up after having been turned over. In both groups, no significant difference was seen between the prone and the supine body positions for the following variables: number of sleep state changes; number of gross body movements; percent of rapid eye movement sleep; saturation with oxygen, arterial blood levels; number and duration of acid esophageal reflux; rectal temperature; mean respiratory rates; water evaporation rates from the forehead skin; and number or duration of central or of obstructive apneas. In both groups of infants, prone body position was associated with a significant increase in sleep duration (+16%) and in non-rapid eye movement sleep (+25%) and a significant decrease in number of arousals (-40%) and in their duration (-43%). CONCLUSIONS: No explanation has been found for the sleep-promoting effect of prone body positioning. The finding could be of interest to the study of infants' sleep quality, as well as to the potential relation between body positions and sudden death during sleep.

Ondine-Hirschsprung syndrome (Haddad syndrome). Further delineation in two cases and review of the literature.

Two unrelated children with congenital central hypoventilation syndrome (CCHS-Ondine syndrome) and long segment Hirschsprung disease are reported. Patient 1, a girl, is still alive at 3 years. Patient 2, a boy, died of viral pneumonia at 5.5 years. Continuous mechanical ventilation was necessary for months and those children could never be weaned from the respirator during sleep. Seventeen cases of this complex neurocristopathy are reviewed. Only six children (including our cases) survived beyond 2 years of age. Hypotonia, delay in developmental milestones or epilepsy were frequently observed. Ventilator dependency does not improve with time. Multifocal congenital neuroblastoma occurred in two children. Aetiology is unknown.

Effects of body movement restraint on cardiac response to auditory stimulation in sleeping infants.

When exposed to an unfamiliar and sudden noise, infant rodents may show an abrupt bradycardia, as part of a "fear-paralysis response". The response is enhanced by body movements restraint. To investigate if this reaction is seen in humans, 15 normal infants with a median age of 12 weeks were studied polygraphically. They were exposed to a 100-dB (A) white noise, while sleeping in REM sleep. Each infant was studied in both "unrestrained" and "restrained" conditions. Restraint of body movement was obtained by means of sand bags and tightly-binding bed sheets. During movement restraint, the infants had a significantly greater and earlier decrease in heart rate compared with during the unrestrained condition. No infant had a minimal heart rate less than 95 beats/min. The present observation raises questions about the possible unfavorable effects of tightly wrapped bed sheets around sleeping infants.

Sleep and cardiorespiratory characteristics of infant victims of sudden death: a prospective case-control study.

We studied the polygraphic sleep recordings of 30 infants who eventually died of sudden infant death syndrome (SIDS) and those of 60 matched control infants. All records were extracted from 20,750 sleep studies collected prospectively in 10 sleep laboratories. Of the 30 future SIDS victims, 5 were siblings of SIDS victims and 9 were studied after an apparent life-threatening event. For each SIDS victim, two normal control infants were matched for sex, gestational age, postnatal age and weight at birth. The future SIDS infants were reported to have more frequent episodes of regurgitations after feeding (p = 0.01) and profuse sweating during sleep (p = 0.01) than the control subjects. Only two polysomnographic variables characterized the future SIDS infants. Compared to control subjects, the SIDS infants moved less during sleep (p = 0.04) and had significantly more frequent obstructed breathing events. Obstructive and mixed apneas were seen in 23 of 30 future SIDS victims, but in only 9 of 60 control subjects (p = 0.01). The obstructed and mixed apneas lasted longer in the SIDS than in the control infants (p = 0.01) but did not exceed 15 seconds. The obstructed breaths occurred mainly in rapid eye movement sleep (78% of the events) and were accompanied by drops in heart rates to 68 beats per minute and in SaO2 levels to 75%. The present report adds further indirect evidence for a possible sleep-related impairment of respiratory control in some infants who eventually died of SIDS.

Lack of temporal relation between acid reflux in the proximal oesophagus and cardiorespiratory events in sleeping infants.

We studied sleeping infants in order to investigate whether a temporal relation exists between acid reflux extending to the proximal portion of the oesophagus and cardiorespiratory events. One hundred infants with occasional regurgitations were studied: 50 infants admitted after an apparently life-threatening event (ALTE) that occurred during sleep and that remained unexplained despite medical investigation, and 50 asymptomatic infants (non-ALTE). The infants had a median age of 8 weeks (range 4-26 weeks); 54 were boys. In each child a pH probe was placed in the proximal portion of the thoracic oesophagus, under radiological control. Polygraphic monitoring of state of alertness, cardiorespiratory activity, and proximal oesophageal pH changes was conducted continuously during 1 night. The data were analysed blind. In 80 infants a total of 186 decreases in oesophageal pH below 4 units were seen; 37% occurred during wakefulness, and 40% during rapid eye movement (REM) sleep. A total of 7029 central and 61 obstructive apnoeas were monitored, mainly during REM sleep. Within 5 min before, and 5 min after the drops in pH, there was no difference in the number, or the duration of bradycardia, central, mixed, or obstructive apnoea. The infants with an ALTE could not be differentiated from the non-ALTE infants for any of the variables studied. It is concluded that spontaneous acid refluxes extending to the proximal portion of the oesophagus during sleep are usually not temporally related with the development of apnoeas or bradycardias.