Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration.

(1) Background: A non-progressive congenital ataxia (NPCA) phenotype caused by β-III spectrin () mutations has emerged, mimicking spinocerebellar ataxia, autosomal recessive type 14 (SCAR14). The pattern of inheritance, however, resembles that of autosomal dominant classical spinocerebellar ataxia type 5 (SCA5). (2) Methods: In-depth phenotyping of two boys studied by a customized gene panel.

Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis.

Hereditary spastic paraplegias (HSPs) are a heterogeneous group of genetic disorders with spastic paraparesis as the main clinical feature. Complex forms may co-occur with other motor, sensory, and cognitive impairment. A growing number of loci and genes are being identified, but still more than 50% of the patients remain without molecular diagnosis.

Ictal Video-Electroencephalography Findings in Bathing Seizures: Two New Cases and Review of the Literature.

Introduction: Reflex bathing seizures are described during the course of bathing in water near body temperature. These seizures differ from other epilepsies characterized by bathing-induced seizures such as hot water epilepsy, but there are few well-described patients and only some of these have been documented by ictal video-electroencephalography.

Methods: Our objective was to characterize the clinical presentation of bathing-induced seizures demonstrated by ictal video-electroencephalographic recordings with water temperature below 38°C.

Vitamin D deficiency in children with epilepsy taking valproate and levetiracetam as monotherapy.

Objective: The aim of this study is to evaluate if valproate (VPA) and levetiracetam (LEV) as monotherapy are associated with vitamin D deficiency among children with epilepsy.

Material & Methods: A cross-sectional clinical (seizure types, aetiology of epilepsy, dosage, drug levels, and duration of AED treatment) and blood testing (calcium, phosphorus, 25-OHD and PTH) study was accomplished in 90 epileptic children (AED group: 59 receiving VPA, and 31 receiving LEV) and a control group (244 healthy subjects). 25-OHD levels were categorized as low (<20ng/ml), borderline (20-29ng/ml), or normal (>30ng/ml) RESULTS: The average dosage of VPA and LEV was 20.

[A comparative study of three systems for quantifying the spike and wave index in patients with continuous spikes and waves during slow sleep].

Introduction: Continuous spikes and waves during slow sleep (CSWS) is an epileptic encephalopathy of childhood with a pattern of epileptiform discharges during sleep, which, if prolonged over time, produce severe neuropsychological impairment. Quantification of the paroxysms by means of a spike and wave index (SWI) > 85% establishes a presumptive diagnosis and allows early therapy to be started to prevent such impairment.

Aims: To compare the results of the classic method for calculating the SWI against two proposals that optimise the relation between the analysis time employed and the diagnostic sensitivity.

Pseudotumour cerebri in children: Aetiology, clinical features, and progression.

Introduction: The definition, associated aetiologies, diagnosis, and treatment of idiopathic intracranial hypertension, or pseudotumour cerebri (PTC), are constantly being revised in the paediatric population.

Objectives And Methods: Our study included children younger than 15 years old with PTC and attended at a reference hospital in the past 12 years. We analysed the clinical and epidemiological features of our sample and the diagnostic and treatment approaches.

[Recurring post-traumatic growing skull fracture].

Introduction: Growing skull fracture, also known as post-traumatic bone absorption or leptomeningeal cyst, is a rare complication of traumatic brain injuries and occurs almost exclusively in children under 3 years of age.

Case Report: We report the case of a 6-month-old child who presented, two months after an apparently unimportant traumatic skull injury, persistence of left temporoparietooccipital cephalohaematoma with no other signs. A transfontanellar ultrasonography scan revealed a bone defect with brain herniation, and computerised tomography and magnetic resonance imaging also confirmed the existence of a growing fracture.

[Electrical status epilepticus during sleep: a retrospective multi-centre study of 29 cases].

Introduction: Electrical status epilepticus during sleep (ESES) is an epileptic syndrome characterised by the presence of very persistent slow spike-wave-type epileptic discharges during non-REM sleep. The management of this pathology, today, is heterogeneous and no controlled studies have been conducted with the treatments employed; similarly, whether or not they improve patients' cognitive development or not has still to be determined.

Patients And Methods: A review was carried out of the patients diagnosed with ESES at four hospitals over a period of 15 years; data concerning their clinical presentation, therapeutic management and clinical course were collected and compared with the literature.

[Dietary patterns in patients with attention deficit hyperactivity disorder].

Objective: To evaluate the dietary patterns in a group of patients diagnosed with attention deficit hyperactivity disorder (ADHD) and under treatment with extended-release methylphenidate (MPH-ER).

Material And Methods: A nutrition survey (food intake recall for three consecutive days) was carried out on 100 patients diagnosed with ADHD and under treatment with MPH-ER, and in 150 healthy children (control group). Calorie and nutrient intake, as well as nutrition status, were evaluated and compared in both groups.

T2 hyperintense signal of the central tegmental tracts in children: disease or normal maturational process?

Introduction: Cerebral central tegmental tract hyperintense signal on T2-weighted MRI (CTTH) is known from various clinical conditions, including children treated with vigabatrin (VGB) for West syndrome (WS), with hypoxic-ischemic brain injury, and metabolic diseases. Considering this clinical diversity, we hypothesized that CTTH might primarily mirror a physiologic process.

Methods: We retrospectively analysed brain MRI data of the central tegmental tracts deriving from four different groups: (1) children with WS and VGB therapy (WS+VGB+), (2) children with WS but without VGB therapy (WS+VGB-), (3) children with different neurological diseases (WS-VGB-; maximum age 15 years), and (4) controls younger than 25 months of age (this age includes the peak age of WS).

Magnetic resonance imaging abnormalities in children with epilepsy.

Background And Purpose: The aim of this study is to analyze the proportional distribution of epilepsy and epileptic syndromes in children and to describe the magnetic resonance imaging (MRI) abnormalities found in these patients.

Methods: Data from 457 children aged 1 month to 15 years at the time of diagnosis of epilepsy were recorded. A routine MRI has been requested in all patients with epilepsy at diagnosis according to a standardized pediatric seizure protocol.

Effects of osmotic-release methylphenidate on height and weight in children with attention-deficit hyperactivity disorder (ADHD) following up to four years of treatment.

There is some controversy concerning \the potential negative influence of methylphenidate on growth. The authors reviewed clinical records of 187 patients with attention-deficit hyperactivity disorder under treatment with methylphenidate. The patients' weight, height, and body mass index were measured at diagnosis and during 4 years of follow-up.

[Nutrition and attention deficit hyperactivity disorder: developmental follow-up of the anthropometric variables of a group of patients receiving treatment with osmotic controlled-release methylphenidate].

Aim: To perform a developmental analysis of the anthropometric variables of a group of patients diagnosed with attention deficit hyperactivity disorder (ADHD) in order to determine the repercussions of treatment with osmotic controlled-release methylphenidate (MTF-OROS).

Patients And Methods: The medical records of 187 patients with ADHD under treatment with MTF-OROS over a period of 30 months were reviewed. Data collected included weight, height and body mass index at diagnosis (baseline) and at 6, 12, 18, 24 and 30 months' follow-up.

Neuroretinitis Caused by Bartonella henselae (Cat-Scratch Disease) in a 13-Year-Old Girl.

Cat-scratch disease-related neuroretinitis is a relatively unusual pathology, with suspicious clinical epidemiological and serological diagnosis. We present a case of an adolescent suffering from unilateral neuroretinitis associated with Bartonella henselae infection characterized by abrupt loss of vision, optic disc swelling, and macular star exudates with optimal response to antibiotic treatment.

Infantile convulsions with mild gastroenteritis: a retrospective study of 25 patients.

Background: The aim of this study was to analyze the epidemiologic, clinical, and evolutional characteristics in patients who presented convulsions with mild gastroenteritis (CwG) to facilitate the diagnosis in daily clinical practice.

Methods: Twenty-five medical records of patients diagnosed with CwG were reviewed, and the epidemiological and clinical features, results of complementary studies, and evolutional data were collected.

Results: Age of onset ranged between 12 and 24 months in 76% of patients.

[Infantile convulsions with mild gastroenteritis: epidemiological and clinical characteristics and outcome].

Aim: To analyse the epidemiological, clinical and developmental characteristics of a group of children with seizures associated with mild gastroenteritis in order to facilitate the diagnostic suspicion of the condition in daily clinical practice.

Patients And Methods: We conducted a retrospective review of the medical records of 24 patients who were admitted to hospital between January 2001 and December 2008 because they presented seizures associated with mild gastroenteritis: epidemiological, clinical and developmental data were collected.

Results: The mean age at diagnosis was 18.

[Epilepsy and epileptic syndromes during the first year of life].

Aim: To analyse the epidemiological characteristics and the relative distribution of the different types of epilepsy and epileptic syndromes during the first year of life.

Patients And Methods: An analysis was performed of the patient records of all patients with epilepsy diagnosed during their first year of life who were submitted to a developmental check-up in the year 2007. The sample consisted of 60 patients (27 boys and 33 girls).

Incidence of epilepsies and epileptic syndromes among children in Navarre, Spain: 2002 through 2005.

All incident cases of children living in Navarre, Spain, younger than 15 years of age with newly diagnosed epilepsy (2002-2005) were registered in a prospective study, with epidemiologic and clinical data and complementary study results collected. Based on International League Against Epilepsy criteria, 191 patients were diagnosed as having epilepsy. The overall incidence rate is 62.

[Rolandic epilepsy: epidemiological and clinical characteristics and outcome].

Objective: To analyse the epidemiological, clinical and developmental characteristics of Rolandic epilepsy as an aid to its suspected diagnosis in daily clinical practice.

Patients And Methods: The medical records of 56 patients with Rolandic epilepsy were reviewed in order to collect epidemiological and clinical features, results of complementary examinations and developmental data. The criteria defined by the International League Against Epilepsy (ILAE) were used in the diagnosis.

[Reversible posterior leukoencephalopathy: report of two cases after vincristine treatment].

Reversible posterior leukoencephalopathy syndrome is a clinical-radiological phenomenon associated with headache, vomiting, lethargy, visual disturbances and seizures, concomitant with radiological abnormalities predominantly within posterior cerebral white matter due to cerebral edema. There are multiple triggers as acute hypertension, cancer, hematological disease, renal pathology, red cells transfusions and different drugs. We present two patients with reversible posterior leukoencephalopathy under treatment for acute lymphoblastic leukemia because of the probable association with vinca alkaloids.

Panayiotopoulos syndrome: epidemiological and clinical characteristics and outcome.

The aim of this study was to analyse the epidemiological, clinical and evolutional characteristics of Panayiotopoulos syndrome (PS) in order to facilitate the diagnosis in daily clinical practice. Thirty-seven medical records of patients diagnosed with PS were reviewed and the epidemiological and clinical features, results of complementary studies and evolutional data were collected. Mean age at diagnosis was 5.

Epilepsy in children in Navarre, Spain: epileptic seizure types and epileptic syndromes.

Data for children 1 month to 15 years of age at the time of diagnosis of epilepsy were recorded from the children's hospital "Virgen del Camino" in Pamplona (Spain) from January to December 2005. International League Against Epilepsy criteria were used for diagnoses. A total of 365 children were recruited into the study.