Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria

Inherited metabolic disorders are the cause of a small but significant number of sudden unexpected deaths in infancy. We report a girl who suddenly died at 11months of age, during an intercurrent illness. Autopsy showed spongiform lesions in the subcortical white matter, in the basal ganglia, and in the dentate nuclei. Investigations in an older sister with developmental delay, ataxia, and tremor revealed l-2-hydroxyglutaric aciduria and subcortical white matter changes with hyperintensity of the basal ganglia and dentate nuclei at brain magnetic resonance imaging. Both children were homozygous for a splice site mutation in the L2HGDH gene. Sudden death has not been reported in association with l-2-hydroxyglutaric aciduria so far, but since this inborn error of metabolism is potentially treatable, early diagnosis may be importan

Dysfonctionnements cognitifs et émotionnels dans les épilepsies idiopathiques de l'enfant

Resumé des difficultés cognitives et comportementales rencontrées chez les enfants et adolescents présentant des syndromes épileptiques appartenant à la "famille" des épilepsies généralisées idiopathiques - d'abord de manière générale et en fonction des syndromes spécifiques- épilepsie absences de l'enfant et juvéniles, épilepsie avec crise toniques cloniques seulement et épilepsie myoclonique juvénile. La part dans ces difficultés de l'épilepsie elle-même et ses variables , des traitements et des prédispositions génétiques sous-jacentes sont discuté

Avancées thérapeutiques dans les épilepsies réfractaires de l'enfant

Epilepsy concerns several thousands of children in Switzerland, and is refractory to classic antiepileptic drugs in an important proportion of cases. This percentage has remained stable, despite a constant production of new antiepileptic molecules. To alleviate this problem, several alternative approaches have been developed these last years. In this article, we present three children who suffer from different forms of pharmacoresistant epilepsy, managed with immunomodulatory or neurosurgical treatments, and we summarize the current knowledge about these therapeutic options

Transient acquired stuttering in a child.

We describe a case of a 9-year-old girl who, after removal of a cerebellar tumour and a secondary right temporo-parietal epidural haematoma, developed transient stuttering, with signs of right hemispheric involvement. Her speech behavlour was very similar to stuttering associated with acquired neurological disorder in adults and different from developmental stuttering and dysarthria subsequent to posterior fossa tumour surgery. Acquired stuttering is rarely reported in children and we think that it was the result of combined right hemispheric and cerebellar dysfunction in this case

Verbal emotional memory in a case with left amygdala damage.

The amygdala nuclei appear to be critically implicated in emotional memory. However, in most studies, encoding and consolidation processes cannot be analyzed separately. We thus studied the verbal emotional memory in a young woman with a ganglioglioma of the left amygdala and analyzed its impact (1) on each step of the memory process (encoding, retrieval, and recognition) (2) on short- and long-term consolidation (1-hour and 1-week delay) and (3) on processing of valence (positive and negative items compared to neutral words). Results showed emotional encoding impairments and, after encoding was controlled for, emotional long-term consolidation. Finally, although the negative words were not acknowledged as emotionally arousing by the patient, these words were specifically poorly encoded, recalled, and consolidated. Our data suggest that separate cerebral networks support the processing of emotional versus neutral stimuli

Procedural learning: A developmental study of motor sequence learning and probabilistic classification learning in school-aged children

In this study, we investigated motor and cognitive procedural learning in typically developing children aged 8–12 years with a serial reaction time (SRT) task and a probabilistic classification learning (PCL) task. The aims were to replicate and extend the results of previous SRT studies, to investigate PCL in school-aged children, to explore the contribution of declarative knowledge to SRT and PCL performance, to explore the strategies used by children in the PCL task via a mathematical model, and to see whether performances obtained in motor and cognitive tasks correlated. The results showed similar learning effects in the three age groups in the SRT and in the first half of the PCL tasks. Participants did not develop explicit knowledge in the SRT task whereas declarative knowledge of the cue–outcome associations correlated with the performances in the second half of the PCL task, suggesting a participation of explicit knowledge after some time of exposure in PCL. An increasing proportion of the optimal strategy use with increasing age was observed in the PCL task. Finally, no correlation appeared between cognitive and motor performance. In conclusion, we extended the hypothesis of age invariance from motor to cognitive procedural learning, which had not been done previously. The ability to adopt more efficient learning strategies with age may rely on the maturation of the fronto-striatal loops. The lack of correlation between performance in the SRT task and the first part of the PCL task suggests dissociable developmental trajectories within the procedural memory system

Cerebellar lesions in pediatric abusive head trauma

Pediatric abusive head trauma (AHT) or non accidental head trauma (NAHT) is a major cause of death from trauma in children under 2 years of age. Main etiological factor for non accidental head trauma is shaking a baby, causing brain injury by rotational head acceleration and deceleration. The consequent brain damage as shown by magnetic resonance imaging (MRI) is subdural haemorrhage and to a lesser extent parenchymal injuries of variable severity. Involvement of the cerebellum has very rarely been described. We report the clinical history and the development of cerebral magnetic resonance imaging findings in two children with serious brain injury following probable shaking who presented the typical "triad" with subdural haematoma, retinal haemorrhage and encephalopathy. We want to draw attention to cerebellar involvement characterized by cortico-subcortical signal alterations most prominent on T2w images following diffusion changes during the acute period. We discuss cerebellar involvement as a sign of higher severity of AHT which is probably underrecognized