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Byline: S. Lin (1), G. P. Ramelli (2), H. Moser (2), S. Gallati (3), J.-M. Burgunder (1) Author Affiliation: (1) Laboratory of Neuromorphology, Department of Neurology, Inselpital/University Hospital of Berne, 3010 Berne, Switzerland. jm.burgunder@dkf6.unibe.ch, CH (2) Department of Pediatrics, University Hospital of Berne, Switzerland, CH (3) Laboratory of Molecular Genetics, Department of Pediatrics, University Hospital of Berne, Switzerland, CH Article note: Received: 2 April 2001, Received in revised form: 29 April 2002, Accepted: 8 May 2002 Correspondence to J.-M. Burgunder

Aim: Paediatric arterial ischaemic stroke can lead to reduced quality of life (QoL). It is important to identify predictors of QoL to support recovery. We examined long-term QoL after arterial ischaemic stroke concerning different variables.Method: Children registered in the Swiss Neuropediatric Stroke Registry and suffering from arterial ischaemic stroke between 2000 and 2008 were included. Two years post-stroke, assessments included intelligence quotient tests for cognitive impairment and modified Rankin Scale (mRS) for neurological impairment; 5 years post-stroke, the Kidscreen-27 was used for QoL, DSM-IV criteria screening was used for attention deficits, and the ABILHAND-Kids was used for manual motor skills. Age at stroke, sex, socioeconomic status, lesion characteristics, neuropsychological and motor outcome, and mRS were correlated with QoL measures.Results: Seventy children were examined (49 males, 21 females; mean age 7y 2wks). Age at stroke, sex, socioeconomic status, and lesion characteristics did not influence QoL; IQ below average and attention deficits partially influenced QoL. The highest predictive value for QoL was found for manual motor impairment (p=0.002) and mRS scores (p=0.013). Combined motor, cognitive, and attention impairment negatively affected QoL (p=0.001).Interpretation: Neurological and cognitive impairments after paediatric arterial ischaemic stroke negatively influence QoL. Children with motor and neurological problems, as well as those with combined motor, cognitive, and attention problems, are at higher risk for low QoL. [ABSTRACT FROM AUTHOR]

The group of neuromuscular disorders includes disorders of the motor neurons in the medulla oblongata and myelon, the peripheral nerves, the neuromuscular junction, and of the muscle. Clinical manifestation varies from pre-/perinatal to adulthood. The prevalence of all neuromuscular disorders is about 1:1500. In the last years, knowledge of genetic defects in neuromuscular disorders has dramatically increased. This is due to an increase in knowledge of the underlying genetic defects. Hence the classification of the neuromuscular disorders is still changing. In clinical practice the history and the clinical examination of patients with suspected NMDs is very important in the correct selection of the necessary investigations. Many investigations are possible, but should be chosen according to the patient's symptoms. Careful interpretation of the results most often defines diagnosis. The aim of this article is to establish a work-up according to the patient's symptoms and problems in childhood. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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., (Copyright © 2013 Elsevier Inc. All rights reserved.)

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.

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.

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.

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.

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.

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.

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.

We present an 11-year-old girl with tuberous sclerosis who developed seizures characterized by circling behavior. Rotatory seizures are uncommon and occur mainly secondary to a focal pathology. Our patient had a right temporal epileptic focus, confirmed by magnetic resonance imaging (MRI) to be a subcortical lesion in the right temporal region. This case is probably the first reported case of tuberous sclerosis associated with rotatory seizures with an ictal EEG.

We present clinical and EEG findings in 4 children with basilar migraine (BM) (three female and one male, age 11 to 13.5 years). All patients had an EEG during the acute attack and a follow-up EEG within 4 to 18 days. In two patients the EEG, done within 4 h of the onset of symptoms (initial stage), showed diffuse polymorphic subdelta-delta activity. In two other children the EEG, performed 16 h after the onset of symptoms, showed delta-theta activity predominant over the occipital regions. Resolution of these abnormalities during follow-up was observed in all patients. We wish to stress the danger of misinterpretation of the slow wave activity in the EEG of patients with BM attacks. Together with the clinical findings and their evolution, EEG results should not be interpreted as a sign of a structural brain-stem lesion, such as infarction or inflammation.

The clinical and neuro-endocrine data of seven young male patients with suprasellar germinomas seen between 1984 and 1992 are reported. The most common initial symptom was 'idiopathic' central diabetes insipidus (DI), which occurred in all seven patients. The time interval between the appearance of this first clinical sign and the definitive diagnosis of a suprasellar germinoma ranged from 3 to 66 months. Raised prolactin levels and growth hormone deficiency were indicators of a process located in the hypothalamic-pituitary region. An increased beta-HCG level in the serum or the CSF confirmed the diagnostic suspicion of a germinoma and was helpful as a tumor marker in follow-up. Neuro-radiologic studies (CT or MRI) were also disappointing in the early stage when patients presented only with DI. Later on, as patients developed additional symptoms or signs related to the tumor, imaging studies were positive. Given the variable rate of tumor progression, the nonspecific early signs of hypothalamic-pituitary dysfunction (DI) as well as the often negative early imaging studies, the diagnosis of suprasellar germinoma is difficult but should always be considered in the presence of so-called 'idiopathic' central DI. Repeated brain MRIs are mandatory in young patients with idiopathic DI in order not to miss an underlying suprasellar germinoma.

Five children (3 girls and 2 boys) who showed generalized synchronous 3/sec spike and wave complexes as well as centrotemporal spikes in the same EEG or in different EEGs are described. Among these five patients only 1 boy and 1 girl showed clinically both absence seizures and partial motor seizures with or without secondary generalization. One girl and 1 boy have only absences and the other girl only partial motor seizures. A concomitance of generalized synchronous 3/sec spike and wave discharges and centrotemporal spikes in the same patient is rarely found. The clinical manifestation of absences and partial motor seizures in the same patient is extremely rare.

Apnoea as an isolated manifestation of seizures is well described in neonates but is only occasionally observed in infants. We present data from four infants, with apnoea as the sole manifestation of seizures, documented by polygraphic ictal electroencephalogram (EEGC) and video recording. The four infants, after normal pregnancy and delivery at term, showed the first apnoea at the age of 2-11 months. The interictal EEG was normal. The ictal EEG and video recording showed in all infants a focal rhythmic alpha or theta activity with or without generalization, which lasted 40-120 seconds. The apnoea appeared a few seconds after the beginning of rhythmic activity and the heart rate remained unchanged during the apnoea. At 2 years' follow-up, three children are seizure-free under anti-epileptic therapy with normal psychomotor development in two, and a slight delay in the third infant. The fourth child has partial seizures and is severely retarded.