A prospective open-labeled trial with levetiracetam in pediatric epilepsy syndromes: continuous spikes and waves during sleep is definitely a target.

Although LVT is currently extensively prescribed in childhood epilepsy, its effect on the panel of refractory epilepsy syndromes has not been entirely evaluated prospectively. In order to study the efficacy and safety of LVT as adjunctive therapy according to syndromes, we included 102 patients with refractory seizures (6 months to 15 years) in a prospective open-labeled trial. The responder rate was respectively 36% and 32% at 3 and 6 months with 6% and 7% patients becoming seizure free. Among the responders at 6 months (n=33), seizure frequency decreased by 66% and 79% at 3 and 6 months LVT compared to baseline. The highest benefit was for CSWS patients with 2/3 responders, 50% seizure free and no aggravation. LVT provided respectively 39% and 42% responders in focal and absence epilepsies. Infantile spasms and Dravet syndrome experienced the lowest efficacy. No patient with myoclonic-astatic epilepsy or Lennox-Gastaut syndrome was aggravated. LVT dose over 40 mg/kg/d was associated with a lower response rate. Tolerability was excellent. In spite of a small sample, we assume that CSWS is a good candidate for a randomized-controlled trial with LVT.

Coincidence of two genetic forms of Charcot-Marie-Tooth disease in a single family.

The authors report a family in which two affected first cousins had a severe demyelinating Charcot-Marie-Tooth disease (CMT) phenotype. One had related parents, and there were no other affected relatives, suggesting an autosomal recessive mode of inheritance. Molecular studies showed that a de novo duplication in 17p11.2 and a second mutation in MTMR2 were present.

West syndrome and mitochondrial diabetes: relationship or coincidence?

West syndrome occurs in infancy and in early childhood. It is characterized by intractable seizures occurring almost daily, severe psychomotor retardation, poor prognosis and EEG abnormalities, known as hypsarrhythmia. We report here the case of a 28-year-old patient, who was diagnosed with West syndrome when he was 8 months old and with diabetes mellitus when he was 25 years old. Sequencing analyses and restriction analyses were suggestive of mitochondrial diabetes. Four years after the diagnosis of diabetes, this patient's diabetes is still controlled by diet and biguanides.

[Dermal sinus and dermoid cyst revealed by abscess formation in posterior fossa. Report of 2 pediatric cases and review of the litterature]. / Sinus dermique avec kyste dermoïde de la fosse cérébrale postérieure révélé par un abcès. A propos de deux cas pédiatriques avec revue de la lattérature.

Cranial dermal sinus, usually associated with dermoid cyst, is the persistance of an abnormal embryonal communication between the skin and the central nervous system. It may be the source of intracranial infection, most often a meningitis and rarely an abscess formation. Two cases of little girls (18 months and 2 years) having dermal sinus with dermoid cyst revealed by cerebellar abscess formations are reported. In the first case there were multiple cerebellar abscesses with hydrocephalus leading to a raised intracranial pressure. In the second case there was an abscess formation adjacent to the dermoid cyst. CT scan showed cysts and abscesses but MRI, achieved in the second case, was useful in demonstrating the sinus tract as well as the associated cyst and abscess. The two patients underwent a posterior fossa surgery with antibiotic therapy. In the first case abscess drainage and ventricular external drainage were necessary before sinus and cyst excision. Two months after surgery the two patients were neurologically intact and developping well. Surgery with total excision of dermal sinus and dermoid cyst, even sometimes difficult, must be preferred to the simple abscess drainage and antibiotic therapy.

[Electroencephalographic effects of sevoflurane in pediatric anesthesia: a prospective study of 20 cases]. / Effets électroencéphalographiques du sévoflurane à l'induction chez le jeune enfant: étude prospective sur 20 cas.

OBJECTIVE: To study electroencephalographic (EEG) changes in children during induction of anaesthesia with 8% sevoflurane. PATIENTS: Twenty patients were consecutively included (ASA I-II; aged: 13-101 months). MATERIAL AND METHOD: Prospective study; approved by the Ethics Committee; written informed consent obtained from parents; anaesthesia induced with 8% sevoflurane in oxygen; no premedication was given; to collect the EEG data, non-invasive electodes were installed before induction; EEG was recorded continuously and stored on a computer for later analyses (descriptive analysis). RESULTS: Myoclonics movements were observed during induction of anaesthesia in two boys. Myoclonics movements stopped spontaneously without therapy. Epileptiform EEG activity (spikes and poly-spikes, burst suppression) was observed. In the 18 others cases, during sevoflurane induction, EEG changed rapidly with an increase in the range of beta activity (> 13 Hz) (n = 15) and in slow (< 8 Hz) and delta activity (< 4 Hz). In 14 patients, at time of laryngoscopy, the EEGs showed monophasic slow data activity (sharp high-voltage slow waves). Periods of EEG isoelectrical (burst suppression) were seen without spikes in four cases. CONCLUSION: At 2 MAC, epileptiform EEG activity has been observed during sevoflurane anaesthesia. In a short group of patients, this raises the question of avoiding sevoflurane in patients who have a history of epilepsy.

[Benign infantile convulsions. French collaborative study]. / Convulsions bénignes du nourrisson. Etude collaboratrice française.

BACKGROUND: Benign infantile non febrile seizures are not well known, leading us to study their clinical and EEG characteristics. METHODS: Between 1981 and 1994, we assembled 34 patients with the following inclusion criteria: non febrile seizures between 1 month and 2 years of age, normal personal history, no abnormality on clinical, biological and radiological investigations, normal developmental outcome with at least 1 year follow-up. RESULTS: These 34 patients were recognized as 14 familial cases (identical seizures affecting parents) and 11 non familial cases. The other nine cases had different or undefined epilepsy in the family. The clinical and EEG characteristics were the same: at the mean age of 6 months, brief partial seizures (often secondarily or apparently generalized) occurring in a cluster of two to 12 episodes a day for a mean duration of 2.5 days, with ictal EEG showing focal discharge, often slow waves or focal spikes on post-ictal tracing and normal interictal EEG. CONCLUSION: The clinical and EEG characteristics are important in order to recognize this type of infantile convulsions (familial or not familial), which have a good prognosis and need no aggressive treatment.

Invasive character of an intradural spinal meningioma in early childhood.

The authors report the case of a 2-year-old baby girl with an intradural meningotheliomatous meningioma of the cauda equina which recurred three times. Despite four operative procedures and localized radiotherapy, the lesion kept on growing to reach the retroperitoneal space. Extensive laminectomy and associated radiotherapy were probably responsible for a spinal dislocation which had to be operated on. The child was left paraplegic with major bladder dysfunction after all procedures. This is the first reported case of well-documented "malignant" evolution of a spinal meningioma.

Recurrent intrinsic brain stem epidermoid cyst.

The authors report the case of a 14-month-old baby boy with an epidermoid cyst located entirely within the pons and medulla, without an exophytic component. The lesion was examined by computed tomography and magnetic resonance imaging. The child was operated upon three times after two recurrences of the lesion. A suboccipital, subtonsillar approach was used for the first and second procedures and a transtemporal approach for the last one. Excision was thought to be complete the first time, since a solid tumor was found and removed in a large cyst. The cyst wall was not identified. No tumor was found during the second procedure despite recurrence of the cyst, which was drained without an attempt to remove the cyst wall. Finally the cyst recurred with a large tumor in the cyst wall which was again totally removed. Consistent with the high mortality of brain stem epidermoid cysts in the literature, the child eventually died. The therapeutic problems, surgical options, and consequences are discussed.

Double-blind, randomized trial of diazepam versus placebo for prevention of recurrence of febrile seizures.

The aim of this study was to evaluate the efficacy and tolerance of intermittent oral administration of diazepam during hyperthermia for reducing the recurrence of febrile seizure: 185 children, between 8 months and 3 years of age, with a first febrile seizure and normal neurologic development, were randomly assigned in a double-blind fashion to receive orally administered diazepam (0.5 mg/kg, then 0.20 mg/kg, every 12 hours) or placebo, whenever the rectal temperature was more than 38 degrees C. The main criterion of efficacy was the seizure recurrence rate 1 year after the first seizure. The duration of the study was 3 years; eight different centers in France participated. There were 462 febrile episodes and 1000 days with prophylactic treatment. The recurrence rates did not differ between the diazepam group (16%) and the placebo (19.5%) group. The children with recurrent seizures were significantly younger at the time of the first seizure (17 +/- 6.9 months) than children without a recurrent seizure (21 +/- 8.5 months). In children with recurrent seizures, prophylactic treatment was correctly administered to only 1 of 15 children in the diazepam group and to 7 of 18 children in the placebo group. The following were the reasons for this poor cooperation: convulsion being the first manifestation of the fever (seven cases in each group), parents neglecting to give treatment (nine cases), and refusal to take treatment by two children. Side effects were similar in the two groups except for hyperactivity, which was more frequent in the diazepam (138 days) than in the placebo (34 days) group. Intermittent oral administration of diazepam at the onset of fever offered no advantage over placebo in preventing recurrence of seizure. This finding probably reflects a lack of efficacy of the intermittent method rather than of diazepam itself.

[Use of acetazolamide in external hydrocephalus in infants]. / Utilisation de l'acétazolamide dans l'hydrocéphalie externe du nourrisson.

External hydrocephalus is believed to be benign but published cases do not clearly establish this prognosis. Five children with typical external hydrocephalus were given acetazolamide. Head circumference measurements or other investigations demonstrated therapeutic effectiveness in four of the five patients. Although this series is too small to establish that acetazolamide avoided external hydrocephalus-related adverse events, the drug's outstanding tolerance and anatomic effectiveness justify widespread use in all patients with CSF resorption disorders.

[Congenital cutaneous aplasia of the scalp. Apropos of 4 cases]. / Les aplasies cutanées congénitales du scalp. A propos de 4 observations.

Report of four cases of congenital defects of the scalp. In two of these cases, the skin defect was associated with a skull defect and in one, there were other cranial deformities. In each case, the lesion seemed isolated in otherwise normal children. This study contains a review of congenital scalp defects. The different aspects of this rare disease are presented and the treatment is discussed with reference to natural evolution. The authors differentiate between cases with isolated lesion and cases with associated malformations or abnormalities, malformation syndromes, as has been previously defined. In the case of skull defects, it is thought that immediate reparatory surgery must be performed, to prevent infection and hemorrhage of sagittal venous sinus, as it was the case in one of the four children. The covering of the defect can be realized with rotated skin flaps, which seem preferable to any form of plastic surgery, for cosmetic reasons, and for the secondary treatment of the skull defect, if this is necessary. When spontaneous closure of the bone defect, is not noted, which occurs generally in the case of large defects, it seems reasonable to close the latter by cranio-plasty, to protect the brain. In one of the four cases reported, this technical approach of the lesion was used, with a good result being reported, four years later.

[Brain stem auditory evoked potentials in children with partial seizures]. / Les potentiels évoques du tronc cérébral dans les épilepsies partielles de l'enfant.

BAEP were recorded in 34 children with partial seizures. Epilepsy with rolandic spikes and occipital paroxysms were excluded. Results were then compared with data from subjects without neurological diseases. Twelve children presented abnormal responses. There were no relationship between results of BAEP and either number of seizures, duration of epilepsy or therapy. Eight of 13 children with complex partial seizures showed abnormal BAEP. Prognostic value of results is discussed. This study shows that Brain stem may be involved in the neuronal dysfunction observed during partial epilepsy.

[Neurological manifestations in relation to vitamin E deficiency, caused by a defect of biliary acid synthesis]. / Manifestations neurologiques en rapport avec une carence en vitamine E, par défaut de synthèse des acides biliaires.

A progressive neurological syndrome with cerebellar signs, abnormal proprioception, areflexia and Babinski response was observed in a child with chronic intestinal malabsorption. There was no ophtalmoplegia or retinitis pigmentosa. Electromyography and biopsy showed no axonopathy or myopathy. Two other members of the family were also affected. The serum Vitamin E corrected the serum Vitamin E levels within a few months and led to secondary neurological improvement. The authors underline the importance of searching for Vitamin E deficiency and its cause in patients, especially children, with signs of spino cerebellar degeneration. Substitative therapy may have a favorable influence on the neurological condition even when administered late.

[Familial distal progressive spinal amyotrophy with asymmetry of the lower limbs]. / Amyotrophie spinale progressive distale et asymétrique des membres inférieurs à caractère familial.

Two cases of spinal muscular atrophy, localized on the lower limbs and strictly unilateral, in two half brothers, are reported. Such a distribution of clinical changes and such a hereditary transmission appear to be unusual in hereditary motor-neuronopathies. A recessive heterotopic transmission may be suspected. To our knowledge, it has been reported in Kennedy's disease only.

Combined continuous wave Doppler and radionuclide delay methods versus angiography in detection of vertebral basilar arterial obstruction.

Noninvasive diagnosis of vertebral artery disease is difficult, but the combined use of Doppler ultrasonography and dynamic radionuclide studies, with measurement of the carotid-basilar delay (CBD), increases the sensitivity and can indicate the level (cervical or distal) of the lesion. Forty patients with cerebrovascular disease were studied by continuous wave Doppler and CBD and the results were compared with vertebral angiograms. The mean normal CBD value was determined for a control group of 18 patients. Sensitivity and specificity were 87.5 per cent and 75 per cent, respectively, for Doppler alone, and 100 per cent and 60 per cent for combined Doppler and CBD.