Early-Onset Dystonia and Visual Impairment Preceding Epileptic Encephalopathy Associated with PIGA Gene Mutation.

The association between dystonia and early-onset epileptic encephalopathy (EOEE) may have a genetic basis. Phosphatidylinositol glycan biosynthesis class A protein (PIGA) germline mutations have been described in the last decade and associated with refractory EOEEs. Dysmorphisms and visceral abnormalities have also been reported.

Paroxysmal ocular movements - an early sign in Glut1 deficiency Syndrome.

The authors describe a 3-year-old female, diagnosed with GLUT1 deficiency Syndrome, with a previously unreported mutation in exon 7 of the SLC2A1 gene: c.968_972 + 3del P. (Val323Alafs*53), characterized by a classic phenotypic of acquired microcephaly, developmental delay, ataxia, spasticity, and epilepsy.

Anatomical and physiological basis of continuous spike-wave of sleep syndrome after early thalamic lesions.

Objective: Early neonatal thalamic lesions account for about 14% of continuous spike-wave of sleep (CSWS) syndrome, representing the most common etiology in this epileptic encephalopathy in children, and promise useful insights into the pathophysiology of the disease.

Methods: We describe nine patients with unilateral neonatal thalamic lesions which progressed to CSWS. Longitudinal whole-night and high-density electroencephalograms (EEGs) were performed, as well as detailed imaging and clinical evaluation.

Hypnic Headache and Basilar Artery Dolichoectasia.

Background: Hypnic headache is regarded by most authors as a primary headache, but in some cases it was considered secondary to hypophysis, brain stem, or posterior fossa lesions.

Case: We report a case of a 69-year-old woman with a history of a headache that fulfils all International Classification of Headache Disorders-II criteria for hypnic headache, with 2 years of evolution, whose complementary investigation with magnetic resonance and magnetic resonance angiography revealed a dolichoectasia of the basilary artery. She was treated with verapamil with excellent response.

Memory functioning in children with epilepsy: frontal lobe epilepsy, childhood absence epilepsy, and benign epilepsy with centrotemporal spikes.

Specific cognitive deficits have been identified in children with epilepsy irrespective of results on intelligence tests. Memory deficits are traditionally attributed to temporal lobe epilepsy, whereas the impact of frontal lobe epilepsy on memory functions has remained controversial. The aim of this study was the examination of memory abilities in other childhood common epilepsy syndromes (frontal lobe epilepsy (FLE), childhood absence epilepsy (CAE), and benign epilepsy with centrotemporal spikes (BECTS)) and the influence of epilepsy-related variables.

Chickenpox and stroke in children: case studies and literature review.

Unlabelled: Postvaricella cerebral arteriopathy (PVCA) presents with acute haemiparesis and/or haemidistonia, caused by ischaemic lesions of internal capsule and/or basal ganglia, related to stenosis of proximal middle and/or anterior cerebral arteries. Anti-aggregant drugs are recommended to prevent thrombus expansion and recurrent stroke, but neurologic outcome is usually good regardless of the therapeutic approach.

Conclusion: Chickenpox should be considered in differential diagnosis of ischaemic stroke in healthy children who fit the clinical and radiological typical profile of PVCA.

Intellectual functioning in children with epilepsy: frontal lobe epilepsy, childhood absence epilepsy and benign epilepsy with centro-temporal spikes.

Purpose: The purpose of our study is to describe intellectual functioning in three common childhood epilepsy syndromes - frontal lobe epilepsy (FLE), childhood absence epilepsy (CAE) and benign epilepsy with centro-temporal spikes (BECTS). And also to determine the influence of epilepsy related variables, type of epilepsy, age at epilepsy onset, duration and frequency of epilepsy, and treatment on the scores.

Methods: Intellectual functioning was examined in a group of 90 children with epilepsy (30 FLE, 30 CAE, 30 BECTS), aged 6-15 years, and compared with a control group (30).

Children often present with infantile spasms after herpetic encephalitis.

Purpose: To determine what epilepsy types occur after herpetic encephalitis and what are the determinant factors for subsequent infantile spasms.

Methods: We analyzed retrospectively the clinical history of 22 patients, referred to Necker and Saint Vincent de Paul Hospitals (Paris) through the French pediatric epilepsy network from March 1986 to April 2010 and who developed epilepsy some months after herpetic encephalitis. We focused on seizure semiology with video-electroencephalography (EEG) recording, and on neuroradiology and epilepsy follow-up.

Seizures as a presentation of a pelvic neuroblastoma in a 5-month-old infant.

Epilepsy is a very uncommon first manifestation of a neuroblastoma. A 5-month-old healthy infant presented with acute onset seizures and developmental regression. Extensive investigation was remarkable for urinary vanillylmandelic acid and homovanillic acid peaks.

[Convulsive status epilepticus in the pediatric emergency department: five year retrospective analysis].

Background/aims: status epilepticus (SE) is the most common neurological emergency in childhood. It may be associated with high mortality and morbidity, resulting in focal neurologic deficits, developmental disorder and epilepsy. The aims of this study were to describe the epidemiology, mortality and morbidity of convulsive SE and to assess the predictive factors of its neurological, cognitive and behavioral prognosis.

Unilateral optic neuritis as a presentation of neurobrucellosis.

Neurobrucellosis manifesting as optic neuritis is a rare disease in childhood. We report a case of neurobrucellosis in a 11 year old girl leading to visual impairment and headache. Physical examination revealed mild oedema of right tibiotarsic joint and optic neuritis.

Transient idiopathic dystonia in infancy.

Aim: Review of transient idiopathic dystonia cases to improve knowledge on this entity, in relation to frequency, characterization and evolution.

Methods: Retrospective review and characterization of clinical cases seen in paediatric neurology consultation, diagnosed with transient idiopathic dystonia, between February 2001 and June 2009, using clinical files complemented with photographic records and updated information through the physician.

Results: Thirteen infants were referred to the paediatric neurology consultation over a period of 8 years, for asymmetric tone, posture and movements of the upper limb with onset before 6 months, with spontaneous favourable evolution and disappearance without sequelae, although the reason for referral was, in most cases, the suspicion of a hemiplegic cerebral palsy.

Functional brain mapping of ictal activity in gelastic epilepsy associated with hypothalamic hamartoma: a case report.

Hypothalamic hamartomas (HHs) have been demonstrated as the cause of gelastic epilepsy, both by intracranial electrodes and functional imaging. The neocortex becomes secondarily involved, through poorly characterized propagation pathways. The detailed dynamics of seizure spread have not yet been demonstrated, owing to the limited spatial-temporal resolution of available functional mapping.

Cerebral tuberculoma presenting as flexion spasms.

A 10-month-old girl was admitted with refractory infantile spasms. Video EEG demonstrated focal epileptic activity, and MRI revealed a conglomeration of annular lesions. Surgical excision was performed and pathology was consistent with tuberculoma.