Biomedical subjects
Publications and source records attributed to T Deonna.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
We describe a neonate with hypotonia, weakness, early death owing to respiratory failure, and a severe form of arthrogryposis multiplex congenita. Postmortem studies revealed numerous ragged-red fibers and central nervous system abnormalities consistent with a mitochondrial disease. No NADH:ubiquinone-1 oxidoreductase (complex I) activity could be detected in skeletal muscle. These findings suggest that mitochondrial cytopathies can be associated with arthrogryposis multiplex congenita and should therefore be sought in neonates presenting with severe arthrogryposis.
We report a longitudinal study (7-11 years) of a previously normal boy (MR) who presented from the age of 5 years with rare partial motor seizures and atypical 'absences'. The history revealed a stagnation in development and speech difficulties a few months before onset of his epilepsy. The first waking electroencephalogram (EEG) showed rare generalized discharges during hyperventilation. Magnetic resonance imaging revealed an arachnoid cyst in the frontotemporal region. Although his epilepsy never became severe, he experienced important learning difficulties. Subsequent EEGs became increasingly active with left focal epileptic activity and continuous spike-waves during sleep (CSWS) present from the first sleep EEG. The first neuropsychological evaluation (7 years) showed a speech dysfluency, word finding and naming problems, inattention and low intelligence quotient. Carbamazepine was changed to clobazam and later ethosuximide was added with a rapid improvement (within 1 month) in linguistic and cognitive performances as well as in behaviour. Furthermore, the patient showed considerable progress in acquisition over the next months whereas learning to read had previously been very difficult. The epileptic activity gradually disappeared and he was able to follow regular school at an age-appropriate level. This case adds a new facet to the already recognized more obvious acquired neuropsychological disturbances known to occur in some partial childhood epilepsy syndromes with CSWS (aphasia, dementia). It manifested as prolonged insidious stagnation in learning and subtle language disability. This study documents rapid specific language improvement with change in anti-epileptic drugs and a restored immediate and long-term learning capacity, suggesting a direct but 'hidden' role of epilepsy.
An 11-year-old girl was evaluated for walking difficulties and fatigue at the end of the day in the last 2 years. Handwriting was also difficult with 'cramps' after a short time of writing. Neurological examination was normal most of the time but in the evening and after exercise, an abnormal walking posture and rare dystonic movements of the foot could sometimes be seen. The mother was found to have mild parkinsonism and is asymptomatic on L-dopa. In the daughter, all symptoms and signs disappeared on L-dopa, but returned when the drug was withdrawn. The changes on- and off-treatment were documented with videofilms and computerized analysis of writing samples. The situation has been stable during a 5-year follow-up. We draw attention to this 'forme fruste' of dopa-sensitive childhood dystonia which becomes manifest with exercise and which can easily go unrecognized. We also discuss and illustrate the methods used for the analysis of writing.
Explore the source record for details and available documents.
We describe three children with unilateral cerebellar aplasia (UCA). Deliveries at term and neonatal periods were uneventful. Pregnancy was normal in one and complicated by mild bleeding (in second and fourth month respectively) in two instances. Presenting signs were delayed motor development with marked contralateral torticollis (n = 1), hemiplegia (n = 1) and unusual head nodding (n = 1). Neuroradiological investigations revealed complete aplasia (n = 1) and subtotal aplasia (n = 2) of one cerebellar hemisphere with only a residual wing-like structure below the tentorium. There was contralateral underdevelopment of the brainstem. The infant with hemiplegic cerebral palsy had an additional supratentorial periventricular parenchymal defect, contralateral to the cerebellar hypoplasia. In view of literature reports, describing similar neuroradiological or neuropathological findings in asymptomatic individuals, it is doubtful whether UCA is responsible for our patient's problems. In our cases UCA has presumably resulted from a prenatal destructive lesion, possibly an infarct, but the timing and exact nature are unknown.
Explore the source record for details and available documents.
Some childhood epilepsies or epileptic syndromes have a direct impact on cognition and/or behavior. Stagnation or regression in development, learning arrest or marked fluctuations in cognitive abilities and behavior can present the symptoms. The problems of diagnosis and evaluation of these situations which differ from those encountered in "classical" epilepsies are discussed in this paper. Cognitive and behavioral disturbances are treated together in this discussion without further qualification although it is fully acknowledged that it is a gross oversimplification. This term indicates that either one or the other or both can occur as a primary direct effect of epilepsy.
Renal involvement was checked in our series of 12 children with Joubert syndrome (JS) who fulfil the cardinal diagnostic features. No patient had clinical evidence of congenital retinal dystrophy. One child had normal kidneys at autopsy and 11 children (aged 1 month to 15 years) had no evidence of cystic kidney changes on ultrasonography. We conclude that kidneys are not involved in JS without retinal dystrophy. There may be a subgroup (or different syndrome) of patients with both renal cysts plus retinal dystrophy, as suggested by Saraiva and Baraitser (11).
Explore the source record for details and available documents.
BACKGROUND: Constant distress and overprotection of parents result from the apprehension and misinformation received, regarding epilepsy of their children and the risk of accidents occurring due to a seizure. Large retrospective studies show that the epileptic children are not more often concerned than the general population. CASE REPORTS: One hundred and ninety-eight epileptic children without permanent motor or mental handicap were followed between 1971 and 1981, covering 1056 years of child's life. They were compared to 3822 injured children admitted to the surgical pediatric emergency unit between 1983 and 1992. RESULTS: Only six accidents occurred because of a seizure in the first group of epileptic children. There were neither deaths nor sequelae. Four of these six accidents revealed an unknown epilepsy. Among the 3,822 injured children, 19 were epileptic but only four of these 19 accidents were caused by a seizure. There were no sequelae. CONCLUSION: The majority of epileptic children without associated handicap are able to have all the normal activities of healthy children. Only severe epilepsies with frequent refractory seizures, some reflex epilepsies and some cases before the seizures are under control require constant supervision.
This paper reviews the concept of "benign" childhood epilepsies on the basis of the literature review and our own published work. The practical diagnostic, prognostic and therapeutic implications of this concept and its limits are discussed and the main syndromes reported as "benign" are reviewed. The recognition of some childhood epileptic syndromes whose prognosis can be established from the onset of the disorder has proven very useful, but does not apply, by far, to all epileptic children. Other important informations on the natural history of various epilepsies, the knowledge of general favorable prognostic factors and the low relapse rate after drug withdrawal in many successfully treated cases has greatly helped the clinical management of many situations. There are numerous myths surrounding the diagnosis "epilepsy" which can have deleterious psychological consequences and which are important to recognize and fight. A globally "benign" final prognosis will depend as much on these factors as on the absolute number of seizures, the duration of the disease and the need for medical treatment.
A 6 1/2-year-old girl had developmental regression, and Leigh syndrome was diagnosed. A second girl born to the same mother after heterologous artificial insemination also lost acquired skills and died at 2 1/2 years of age; neuropathologic examination confirmed the diagnosis of Leigh syndrome. Tissues from both children and from the mother had a point mutation at nucleotide 8993 in the adenosinetriphosphatase 6-gene of mitochondrial DNA. This family illustrates that Leigh syndrome can be transmitted by maternal inheritance.
We report 2 previously healthy children who developed sudden unexpected respiratory arrest and brain death, during a presumed Epstein-Barr meningitis in one case and a multisystemic infection of unknown etiology in the other. Diffuse swelling of the cerebellum with upward transtentorial and downward tonsillar herniation, shown by brain CT-scan and MRI obtained after the acute event, was the most probable cause of death. Review of CT images performed before or at the onset of deterioration already showed discrete signs of early upward herniation of the cerebellar vermis that were initially overlooked. At autopsy in the first case, an acute lymphomonocytic meningoencephalitis with predominant involvement of the cerebellum was observed. Few similar cases were found in the literature, indicating that acute cerebellar swelling is either a very rare or an unrecognized, possibly preventable cause of death in acute inflammatory or non-inflammatory encephalopathies in children.
Explore the source record for details and available documents.
The authors report a follow-up study of two boys who presented with autistic regression (after normal early development) at 13 and 22 months. Both were found on cerebral imaging to have tuberous sclerosis, with lesions involving the limbic system, bilaterally in the second child. The first child's regression coincided with the onset of partial complex seizures; disappearance of the autistic behaviour and marked improvement in cognitive development occurred with remission of the epilepsy. The second child, who had probable seizures and a late-appearing epileptic focus on EEG, remained severely disabled. The autistic behaviour appears to be linked to pathology in the limbic system and a direct role of epilepsy in the regression is proposed.
Four children with 'epilepsy and continuous spike-wave sleep' syndrome and mental and behavioural regression were followed prospectively with neuropsychological tests, behavioural questionnaires and sleep EEG performed at regular intervals between 1 1/2 and four years of age. The children showed a pattern of behavioural and cognitive disturbances similar to that found in some developmental autistic-like disorders, but also in adult frontal syndrome. Deterioration was probably due to an unusual long-standing epileptic dysfunction involving the frontal lobes. The process is potentially reversible and seems to be the same as postulated for acquired epileptic aphasia, but in a different localization.