BECTS evolving to Landau-Kleffner Syndrome and back by subsequent recovery: a longitudinal language reorganization case study using fMRI, source EEG, and neuropsychological testing.

By means of a longitudinal case study, we demonstrated the course of cerebral reorganization of language representation due to epilepsy in a child with benign epilepsy with centro-temporal spikes (BECTS) evolving to Landau-Kleffner Syndrome (LKS) and returning to BECTS. The child underwent the following procedures at the ages of 8.2, 8.6, and 9.3 years: 3D source EEG imaging, language fMRI (sentence generation and reading), and neuropsychological testing. He had a follow-up testing at the age of 10.8 years. Further, 24-h EEGs were regularly performed. At the age of around 8 years, the child was diagnosed initially with left-hemispheric BECTS, which evolved to LKS with continuous bilateral discharges. In addition, 3D source imaging data revealed a left anterior temporal focus with a spreading to the right parietal and left centro-parietal areas. The patient had verbal agnosia with poor verbal yet good performance indices. Functional magnetic resonance imaging (fMRI) showed a left-hemispheric reading network but sentence generation was impossible to perform. After initiation of adequate treatment, continuous discharges disappeared, and only very rare left-hemispheric centro-temporal spikes remained. Verbal IQ and performance IQ increased at the age of 8.6 years. Functional magnetic resonance imaging showed, at this time, a right-hemispheric language activation pattern for sentence generation and reading. At the ages of 9.3 and 10.8 years, language tasks remained right-hemispheric and verbal IQ remained stable, but right-hemispheric non-verbal functions decreased due to possible crowding-out mechanisms.

Dystrobrevin isoform expression in patients with neuromuscular disease.

OBJECTIVE: The role of dystrobrevin, a cytoplasmic component of the dystrophin-protein complex, in neuromuscular diseases has not been fully elucidated. This study evaluated the expression of dystrobrevin in patients with different neuromuscular diseases. METHODS: We compared dystrobrevin isoforms expression in patients with Duchenne and Becker Muscular Dystrophy (DMD and BMD) and patients with other neuromuscular disorders not linked to the dystrophin-associated complex. RESULTS: Both, alpha-dystrobrevin-1 and -2 isoforms are markedly reduced in the muscle of patients with dystrophinopathies irrespective of the age at the time of biopsy. Conversely, alpha-dystrobrevin-1 was preserved in Limb Girdle Muscular Dystrophies (LGMD) type 2I patients with altered glycosylation of alpha-dystroglycan and in patients with alterations of alpha-dystroglycan due to defects in extracellular matrix proteins (laminin-alpha2). CONCLUSIONS: Immunolabeling of dystrobrevin could be a useful marker in the diagnostic of neuromuscular diseases.

[Non epileptic paroxysmal movements disorders in infant]. / Nicht-epileptische paroxysmale Bewegungsstörungen des Säuglings.

Paroxysmal non-epileptic disorders may cause episodic and paroxysmal symptoms that mimic true epileptic seizures and they must be considered in the differential diagnosis. Paroxysmal movement disorders are not uncommon in infants, but are probably under-recognised. These phenomena represent various clinical situations, characterised by intermitted and episodic disturbances of movement. Clinical experience and a detailed history and careful observation with video recording are often helpful to establish the correct diagnosis. In the large majority of the cases, paroxysmal movement disorders are benign situation. Most of the time, no treatment will be required, and the families will be informed of the good prognosis. These disorders in infants are discussed in the present review.

Becker muscular dystrophy with marked divergence between clinical and molecular genetic findings: case series.

Both Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused by mutations of the X-linked dystrophin gene. BMD patients are less affected clinically than DMD patients. We present five patients with a diagnosis of BMD. First, two identical twins, with a deletion of exon 48 of the dystrophin gene, who experienced prominent muscle cramps from the age of three. The histopathological examination of muscle biopsies of these two twins revealed only very slight muscle fiber alterations. Second, two brothers who displayed marked, unusual intrafamilial variability of the clinical picture as well as showing a new point mutation in the dystrophin gene. And finally, a fifth boy who displayed a new point mutation in the dystrophin gene. Although he was clinically asymptomatic at the age of 15 and muscle biopsy only showed very minor myopathic signs, serum Creatine Kinase (CK) levels had been considerably elevated for years. Taken together, these cases add to the spectrum of marked discrepancies in clinical, histopathological and molecular genetic findings in BMD.

Neuropsychological problems after paediatric stroke: two year follow-up of Swiss children.

AIM: The aim of this study was to obtain information about neurological and cognitive outcome for a population-based group of children after paediatric ischaemic stroke. METHODS: Data from the Swiss neuropaediatric stroke registry (SNPSR), from 1.1.2000 to 1.7.2002, including children (AIS 1) and neonates (AIS 2). At 18-24 months after a stroke, a follow-up examination was performed including a history, neurological and neuropsychological assessment. RESULTS: 33/48 children (22 AIS 1, 11 AIS 2) participated in the study. Neurological outcome was good in 16/33. After childhood stroke mean IQ levels were normal (94), but 6 children had IQ < 85 (50-82) and neuropsychological problems were present in 75%. Performance IQ (93) was reduced compared to verbal IQ (101, p = 0.121) due to problems in the domain of processing speed (89.5); auditory short-term memory was especially affected. Effects on school career were common. Outcome was worse in children after right-sided infarction. Children suffering from stroke in mid-childhood had the best prognosis. There was no clear relationship between outcome and localisation of the lesion. After neonatal stroke 7/11 children showed normal development and epilepsy indicated a worse prognosis in the remaining 4. CONCLUSION: After paediatric stroke neuropsychological problems are present in about 75% of children. Younger age at stroke as well as an emergence of epilepsy were predictors for worse prognosis.

[Childhood hypertension: current medical management]. / Prise en charge pharmacolo- gique de l'hypertension artérietle chronique chez l'enfant: KISS, please.

Pediatricians currently have improved understanding of how to best manage childhood hypertension. The goal of antihypertensive drug therapy in children with secondary hypertension is currently to reduce the blood pressure below the 90th centile. Most authors currently favor therapy with a blocker of the renin-angiotensin system (a converting enzyme inhibitor or an angiotensin II antagonist) or a calcium channel blocker. In patients with kidney disease and diabetes mellitus we generally advise therapy of hypertension with a blocker of the renin-angiotensin system especially in the presence of pathological proteinuria.

The first three years of the Swiss Neuropaediatric Stroke Registry (SNPSR): a population-based study of incidence, symptoms and risk factors.

We report the results of three years of the population-based, prospective Swiss NeuroPaediatric Stroke Registry (SNPSR) of children (up to 16 years) with childhood arterial ischaemic stroke (AIS1), neonatal stroke (AIS2), or symptomatic sinus venous thrombosis (SVT). Data on risk factors (RF), presentation, diagnostic work-up, localisation, and short-term neurological outcome were collected. 80 children (54 males) have been included, 40 AIS1, 23 AIS2, and 17 SVT. The data presented will be concentrated on AIS. The presentation for AIS1 was hemiparesis in 77% and cerebellar symptoms and seizures in 20%, respectively. AIS2 presented in 83% with seizures and in 38% with abnormality of muscle tone. Two or more RF were detected in 54%, one RF in 35%. The most prominent RF for AIS1 were infections (40%), followed by cardiopathies and coagulopathies (25% each). AIS2 were frequently related to birth problems. Neurological outcomes in AIS1 and AIS2 were moderate/severe in 45 % and 32 %, respectively. The outcome correlated significantly with the size of infarction (p = 0.013) and age at stroke (p = 0.027). The overall mortality was 6%. Paediatric stroke is a multiple risk problem, which leads to important long-term sequelae.

Presumptive monosomy 21 with neuronal migration disorder re-diagnosed as de novo unbalanced translocation t(18p;21q) by fluorescence in situ hybridisation.

We present clinical and cytogenetic data of a one year old boy with partial monosomy for both 21q and 18p, resulting from a de novo unbalanced translocation. The initial diagnosis of a seemingly full monosomy 21 was revised after fluorescence in situ hybridisation (FISH) with whole chromosome painting probes and a locus-specific chromosome 21 probe. The karyotype was reinterpreted as 45,XY,der(18)t(18;21)(p11.2;q22.1),-21. This karyotype, to our knowledge, has not been previously described. The boy presented with a spectrum of clinical features previously described for (partial) monosomy 18p only, for monosomy 21q only, or for both of these aneusomies. The radiological finding of a neuronal migration disorder with localised polymicrogyria (cortical dysplasia) has not been described for either monosomy before.

Congenital pseudarthrosis of the ulna and radius in two cases of neurofibromatosis type 1.

Two children with neurofibromatosis type 1 who presented at birth with congenital pseudarthrosis of the ulna and radius are described. The patients were treated with broad resections. As a consequence, the forearms were reduced in length. The osteotomies were stabilized in one patient first with endomedullary nailing and then with a free vascularized fibular graft. In the second patient the osteotomy was stabilized by external fixation. Using these techniques, rapid and excellent healing and normal function were achieved. In contrast to the lower extremity, reduction of the length of the forearm can be accepted to a certain extent. If necessary, an extension osteotomy can be performed at a later date.

Anterior spinal artery syndrome in an adolescent with protein S deficiency.

The diagnosis of anterior spinal artery syndrome can be made with high accuracy by thorough clinical examination in combination with typical magnetic resonance imaging findings. Sudden onset of tetra- or paraparesis and dissociated sensory loss with bladder dysfunction are the leading clinical signs. We discuss clinical and radiologic findings in an adolescent presenting with anterior spinal artery syndrome. The laboratory results showed a hereditary protein S deficiency.

Abnormal myelination in a patient with deletion 14q11.2q13.1.

A male carrying an interstitial deletion of chromosome 14, presumably del(14)(q11.2q13), and presenting with abnormal myelination on magnetic resonance imaging is described. The abnormal myelination was evidenced as a high-signal intensity on T(2)-weighted magnetic resonance imaging. The patient had severe neurologic signs, various dysmorphic features, and a marked microcephaly. To our knowledge, this case is the first patient reported with abnormal myelination and a deletion of chromosome 14.

Non-infectious causes of uveitis in 70 Swiss children.

Many diseases are linked with uveitis, but few studies have specifically looked at the noninfectious triggers of childhood uveitis in Central Europe. The charts of 70 paediatric patients with non-infectious uveitis admitted to the Department of Pediatrics, University of Bern, Switzerland, between 1983 and 1998 were therefore reviewed. In the patients the age at presentation with uveitis ranged between 0.3 and 16 y, median 8.5 y. Based on the localization, uveitis anterior was diagnosed in most cases (n = 40; 57%), followed by panuveitis (n = 20; 29%) and uveitis posterior (n = 10; 14%). Uveitis was chronic in 54 (77%) and acute in 16 (23%), bilateral in 38 (54%) and unilateral in 32 (46%) cases. An associated condition was noted in 32 (46%) cases: juvenile idiopathic arthritis in 24 cases, sarcoidosis and juvenile spondyloarthropathy in 3 cases, and Sjögren's syndrome and Behçet's disease in 1 case each. In the remaining 38 (54%) patients, no associated condition was diagnosed. It is concluded that in Swiss children, uveitis can be due to a wide spectrum of non-infectious diseases, juvenile idiopathic arthritis being the leading cause. In the majority of the children, no associated condition was recognized.

Swelling of the third nerve in a child with transient oculomotor paresis: a possible cause of ophthalmoplegic migraine.

Transient oculomotor nerve palsy is rarely observed in childhood and mostly is recognized to be a migraine equivalent. We report an 8-year old girl who presented with recurrent attacks of transient oculomotor paresis. The clinical profile of the patient suggested transient dysfunction in the context of an ophthalmoplegic migraine. A CT scan was normal, but MRI demonstrated a swollen right oculomotor nerve.

Pleomorphic xanthoastrocytoma derived from glioneuronal malformation in a child with intractable epilepsy.

Malformative lesions as well as neoplasms can cause intractable epilepsy in childhood. Even though the neoplastic nature of a lesion is evident in most cases, the distinction can be difficult in some patients. We present the case of a child with intractable epilepsy caused primarily by a glioneuronal malformation. Years after the first surgical intervention, a pleomorphic xanthoastrocytoma evolved from remnants of this lesion. This case suggests that glioneuronal malformations might be precursor lesions of pleomorphic xanthoastrocytomas.

[Pseudoarthrosis in neurofibromatosis type 1]. / Pseudarthrose bei Neurofibromatose Typ 1.

Neurofibromatosis type 1 (NF1) is the most common neurocutaneous disease. The clinical manifestations are diverse. Some of the skeletal changes are most relevant to the patient. We report on 9 patients with NF1 who presented with typical pseudarthrosis. In 8 of these children the lower extremity was involved. In 2 cases lesions of both tibia and fibula were found, in one case even over long segments with a fully instable leg. One child had a complete pseudarthrosis of the radius and ulna. This report analyses the bony changes, the operations performed and the possible technical improvements to be made. The present study as well as other recent studies suggest that bony lesions should be operated early using microsurgical methods.

Precipitants in 42 cases of erythema multiforme.

UNLABELLED: A total of 42 children with erythema multiforme (aged 0.1 to 15.8 years, median 6.1 years) were treated between 1978 and 1997 at the Department of Paediatrics, University of Bern, Switzerland. Antecedent infections were noted in 30 cases: Mycoplasma pneumoniae infection (n = 14), acute upper respiratory tract disease (n = 10) and herpes simplex infection (n = 6). Four cases were associated with antecedent medication (n = 3) or immunization (n = 1). In 12 of the 30 patients in whom erythema multiforme followed an infectious disease, drugs described in the literature as inducers of erythema multiforme had been given for symptoms not suggestive of the condition. In the remaining eight children no precipitating agent could be detected. CONCLUSION: In this survey infections were found as a definite or at least presumptive trigger of erythema multiforme in 71% of cases. Drugs (including immunization) implicated as triggers of erythema multiforme played a definite causative role in 10% and a presumptive role in a further 29% of patients. In 19% of patients an associated condition was not diagnosed.

Circulating antineutrophil autoantibodies in a child with isolated central nervous system vasculitis.

An 8-year old girl with history of twisted neck and painful swelling on the left side of the neck was found to have malfunction of glossopharyngeal and hypoglossal nerves on the left side. Magnetic resonance angiography revealed a giant aneurysm of the internal carotid artery surrounded by a widespread inflammatory tumor. Cerebral angiography disclosed a large, false aneurysm with almost complete compression of the internal carotid artery. Circulating antineutrophil cytoplasmic autoantibodies (titer 1:2560) and high levels of antibodies against antiproteinase 3 were detectable. This observation indicates that these autoantibodies may be a diagnostic tool in children in whom an undiagnosed central nervous system inflammatory disease is present.