[Perioral myoclonia syndrome with absences: about 2 cases]. / Le syndrome des myoclonies péribuccales avec absences: a propos de 2 cas.

Perioral myoclonia with absences (POMA) was first described in 1994 by CP Panayotopoulos who identified 6 cases that did not fit with the classical syndrome of absence epilepsy in children and whose predominant symptom during the absence seizure was the occurrence of myoclonia of perioral muscles. The POMA belongs to the group of generalized idiopathic epilepsies. It begins in childhood and there is a female predominance. It may be accompanied by tonic-clonic generalized seizures as well as absence status epilepticus. It has the EEG characteristics of typical absence seizures and therefore remains currently considered as such. The clinical manifestations of POMA are often misdiagnosed as focal motor seizures. This syndrome can be pharmacoresistant and is not likely to regress spontaneously. We present two clinical observations of perioral myoclonia with absences. The first case illustrates the typical electro-clinical features of this syndrome while the second illustrates its pharmacoresistance.

[Epidemiology and characteristics of febrile seizures in children]. / Epidémiologie et caractéristiques des convulsions fébriles de l'enfant.

Febrile Seizures (FS), despite their usual benign clinical course, are still subject of controversies regarding the need for further investigation and treatment with anti-epileptic drugs (AEDs). Our study aimed to inventory the clinical findings, laboratory and imaging data associated with FS and eventually influencing their management. 275 episodes admitted with FS at the emergency ward of the Liege CHR over a 5 year period were retrospectively analyzed regarding precipitating factors; clinical features; laboratory, electroencephalographic, and imaging studies; as well as treatment response. FS represented 1.4% of admissions to the pediatric service. 31.3% of patients had a family history of seizure disorder. 9% percent of seizures were focal, 11.7% recurrent, and 12.3% prolonged (greater than 10 minutes). Upper respiratory tract and otorhinolaryngologic viral infections were the most often implicated provoking factors, occurring in 69.5% of patients. Laboratory, electroencephalographic and radiographic studies were normal in more than 90% of cases. 73.8% of seizures resolved without intervention. An AED was required to manage the remaining 26.2%. This study confirms the favorable outcomes of FS as demonstrated in previous studies. This happens without requiring AEDs for resolution, and without recurrence. Laboratory, electroencephalographic and imaging studies, as well as initiation of AEDs should be based primarily on clinical severity.

Epileptic syndromes: differential treatment in infants, children, and adolescents.

This paper proposes therapeutic guidelines for the management of some epileptic syndromes in infants, children, and adolescents, based on available medical literature and clinical practice in the French Community of Belgium. The guidelines address both epileptic encephalopathies (West syndrome, Lennox-Gastaut syndrome, and Dravet syndrome) and idiopathic epilepsies (typical absence seizures, epilepsy with centro-temporal spikes and juvenile myoclonic epilepsy).

[Care and follow-up of premature infants after discharge]. / La prise en charge et le suivi des nouveau-nés prématurés après leur retour à domicile.

Prematurity remains a public health problem with a considerable psychosocial impact. Premature infants are discharged home more fragile and more precociously than infants born at term. Post-discharge nutrition and growth of the preterm infants should be carefully followed because of specific needs of these infants. Infections and cardiorespiratory abnormalities are more frequent in ex-premature infants. Some cerebral lesions may be shown by brain imaging suggesting future sequelae. However, estimation of their real consequences remains imperfect and long term prognosis contains many uncertainties. Cerebral palsy seems to be less severe nowadays, but all current gravity is due to disabilities which express later: hearing disorders, visual impairments, alterations of eye-hand coordination skills, attention deficit disorders, psychological troubles and school difficulties. Multidisciplinary consultations are designed for these children because early screening and adapted care can improve long term prognosis. All this underlines the importance of prolonged follow-up program after discharge for premature infants and others who presented worse suffer from hypoxic/ischemic encephalopathy.

[Update in drug therapy in neuropediatry]. / Actualités thérapeutiques en neuropédiatrie.

The most recent antiepileptic drugs used in children are lamotrigine, topiramate, oxcarbamaz6pine and levetiracetam. Their efficacy is proven, depending on the type of crisis, but in Belgium they are reimbursed only in certain conditions. The treatment of children with attention deficit hyperactivity disorder (ADHD), which was only constituted of methylphenidate, can now benefit from atomoxetine whose mechanism of action is different.

The epileptic syndromes with continuous spikes and waves during slow sleep: definition and management guidelines.

The authors propose to define the epileptic syndromes with continuous spikes and waves during slow sleep (CSWS) as a cognitive or behavioral impairment acquired during childhood, associated with a strong activation of the interictal epileptiform discharges during NREM sleep--whatever focal or generalized--and not related to another factor than the presence of CSWS. The type of syndrome will be defined according to the neurological and neuropsychological deficit. These syndromes have to be classified among the localization-related epileptic syndromes. Some cases are idiopathic and others are symptomatic. Guidelines for work-up and treatment are proposed.

Prophylaxis of the epilepsies: should anti-epileptic drugs be used for preventing seizures after acute brain injury?

In many circumstances antiepileptic drugs are used in patients who have never presented any clinical epileptic seizures. These substances are administered on the assumption of a potential risk for the patients of developing acute or delayed chronic seizures after brain injuries such as trauma, stroke, hemorrages or even neurosurgical interventions. The aim of this paper is to propose therapeutic guidelines for the management of this prophylactic attitude in epilepsy based on basic research and clinical practice in the French community in Belgium. We will distinguish between the prevention of acute (early onset-provoked) seizures and a delayed truly post-lesional (unprovoked) epilepsy. Some therapeutic goals can be achieved under the former circumstances whereas in the latter situation we all agree for the absence of any coherent antiepileptic prophylactic behaviour.

Guidelines for recognition and treatment of the psychoses associated with epilepsy.

Epilepsy and psychiatric diseases are frequent comorbidities. Psychoses in patients with epilepsy have special physiopathology and several clinical presentations and prognoses. Their treatments are also specific, according to the specific diagnosis. This paper represents the summary of a consensus meeting held in November 2003 by a Belgian French-speaking group of neurologists, neuropediatricians and psychiatrists and proposes guidelines for the recognition and treatment of those entities.

A cross-sectional survey of the prevalence of Streptococcus pneumoniae nasopharyngeal carriage in Belgian infants attending day care centres.

Nasopharyngeal carriage is a major factor in the transmission of pneumococcal disease. The aim of this study was to determine the prevalence of asymptomatic nasopharyngeal carriage of Streptococcus pneumoniae and the distribution of serogroups and serotypes in children aged 3-36 months attending day care centres in Belgium. A single nasopharyngeal swab was cultured from 467 children attending 30 different day care centres between December 2000 and March 2001. S. pneumoniae isolates were serotyped and their antibiotic susceptibilities assessed by disk diffusion. The overall nasopharyngeal carriage rate for S. pneumoniae was 21% in the 467 children. None of the commonly accepted risk factors studied was associated significantly with carriage. Capsular serotypes isolated were 19F (27.3%), 6B (20.2%), 23F (19.2%), 19A (10.1%), 6A (7.1%), 14 (5.1%) and others (11.0%). Theoretical coverage by the seven-valent (serotypes 4, 6B, 9V, 14, 18C, 19F and 23F) pneumococcal conjugate vaccine was 73.7%. Fourteen (14.1%) of 99 strains were non-susceptible to penicillin, 48 (48.5%) to tetracycline and 61 (61.6%) to erythromycin. Theoretical coverage by the seven-valent pneumococcal conjugate vaccine was 93% for the penicillin-resistant serotypes, 69% for the tetracycline-resistant serotypes and 75% for the erythromycin-resistant serotypes. Use of the seven-valent pneumococcal conjugate vaccine could potentially reduce nasopharyngeal carriage of the antibiotic-resistant strains.

Therapeutic issues in women with epilepsy.

Approximately 20% of people with epilepsy are of childbearing potential and about 3 to 5 births per thousand will be to women with epilepsy. Both epilepsy and antiepileptic drugs can cause specific problems in women and embryos (less than 8 weeks of gestational age) or foetuses (more than 8 weeks of gestational age). The aim of this paper is to discuss therapeutic issues for the management of women with epilepsy: initiation of antiepileptic therapy, contraception, pregnancy, breast feeding and menopause. Some fertility issues are also discussed.

Therapeutic strategies in the choice of antiepileptic drugs.

The choice of treatment of newly diagnosed epilepsy involves many factors such as age, sex, life style, general health and concomitant medication. The seizure type, syndrome, and the pharmacology, efficacy and safety of the antiepileptic drugs (AEDs) should also be considered. Some of the new AEDs appear to provide at least equivalent efficacy with better tolerability. Some of these drugs have the potential to become drugs of first choice in newly diagnosed epilepsy. At the present time, we also must consider the criteria of reimbursement of these drugs. In this paper, we try to describe common and practical strategies to start a treatment of newly diagnosed epilepsy.

[Clinical case of the month. Myoclonic-astatic epilepsy in a young child (MAE) or Doose syndrome]. / Le cas clinique du mois. Epilepsie myoclono-astatique du jeune enfant (EMA) ou syndrome de Doose.

Myoclonic astatic epilepsy (MAE) belongs to the epilepsies with generalized seizures. MAE occurs in 1-2% of all childhood epilepsies up to age 9. This disease is characterized by various clinical and EEG criteria. The course of this epileptic syndrome is variable but influenced by an early diagnosis and by a specific treatment.

Heterogeneity of SPONASTRIME dysplasia: delineation of a variant form with severe mental retardation.

We report a child with short stature, osteopenia with metaphyseal striations and severe mental retardation. This child shows radiological and clinical features of SPONASTRIME dysplasia. Only three sibships with this disorder have been reported. In two families, affected patients were of normal intelligence. In the third one, as well as our case, the dysplasia was complicated by severe mental retardation of unknown origin. The severity of the retardation in our case and a previous report, and some difference in the gestalt and radiological aspects, suggest that SPONASTRIME dysplasia is a heterogeneous disorder. We provisionally propose to split SPONASTRIME dysplasia in two phenotypically distinct subgroups, and to delineate here a 'new' variant with microcephaly and severe mental impairment.

Diabetes mellitus, mental retardation, lipodystrophy and dysmorphic traits.

We report on a mentally retarded girl with dysmorphic facies (hypertelorism, upslanting palpebral fissures, blepharophimosis, prominent teeth), who suffered from juvenile-onset insulinopenic diabetes mellitus and lipodystrophy. She could represent an undescribed MCA/MR syndrome.