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

(1) Background: A non-progressive congenital ataxia (NPCA) phenotype caused by ß-III spectrin (SPTBN2) 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. Candidate variants were sought by structural modeling and protein expression. An extensive review of the literature was conducted in order to better characterize the SPTBN2-associated NPCA. (3) Results: Patients exhibited an NPCA with hypotonia, developmental delay, cerebellar syndrome, and cognitive deficits. Both probands presented with progressive global cerebellar volume loss in consecutive cerebral magnetic resonance imaging studies, characterized by decreasing midsagittal vermis relative diameter measurements. Cortical hyperintensities were observed on fluid-attenuated inversion recovery (FLAIR) images, suggesting a neurodegenerative process. Each patient carried a novel de novo SPTBN2 substitution: c.193A > G (p.K65E) or c.764A > G (p.D255G). Modeling and protein expression revealed that both mutations might be deleterious. (4) Conclusions: The reported findings contribute to a better understanding of the SPTBN2-associated phenotype. The mutations may preclude proper structural organization of the actin spectrin-based membrane skeleton, which, in turn, is responsible for the underlying disease mechanism.

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. We described two previously unreported infants and reviewed additional cases in the literature that fulfilled those criteria. RESULTS: Eighteen infants were indentified. They were predominantly male (72%), and the mean age of seizure onset was 15 months (one to 36 months). The most frequent seizure triggers included pouring water over the face and immersion. Seizures were of focal onset with loss of awareness and prominent autonomic symptoms. Ictal video-electroencephalography revealed delta-theta high-amplitude focal waves involving temporal and adjacent regions, with a rapid spread to the ipsilateral hemisphere or generalization. Avoiding known triggers usually controlled the seizures, but carbamazepine, valproate, and levetiracetam were also helpful. Neuroimaging was normal in all cases, and neurodevelopment was unaffected. DISCUSSION: Bathing seizures predominate in boys with an early onset and a benign self-limited course. The use of ictal video-electroencephalographic recordings in these cases leads to diagnosis and reveals individual differences in triggers.

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 20.7±4.7mg/kg/d and 24.1±7.9mg/kg/d, respectively. The mean duration of VPA therapy was 2.5±1.4years, and with LEV was 2.3±1.6years. Mean calcium and 25-OHD levels were significantly higher (p <0.05) in the control group. There was a negative correlation (p <0.01) between 25-OHD and VPA levels (r=-0.442). Vitamin D deficiency (%) was significantly higher (p <0.05) in VPA (24.1%) and LEV (35.5%) groups than in control group (14%). The multiple logistic regression analysis showed that VPA monotherapy (OR: 1.9, CI 95%: 1.1-3.8) and LEV monotherapy (OR: 3.3, CI 95%: 1.5-7.5) were associated with an increased risk of vitamin D deficiency. CONCLUSIONS: The prevalence of vitamin D deficiency is common in children with epilepsy taking VPA or LEV. Hence vitamin D status of children treated with VPA and LEV should be regularly monitored and vitamin D supplements should be considered on an individual basis.

Elevación de la CPK y plaquetopenia asintomáticas como síntomas iniciales en la enfermedad de McArdle / Asymptomatic hyper-CK-emia and thrombocytopenia as initial symptoms of McArdle's disease

La enfermedad de McArdle es una enfermedad metabólica, de origen genético, resultado de una deficiencia en una de las enzimas responsables del metabolismo del glucógeno en el organismo. Estos pacientes presentan una clínica y unas alteraciones bioquímicas características, que sugieren el diagnóstico. Se presenta el caso de un paciente de 14 años, en el cual las alteraciones en la analítica sanguínea se presentaron previas a la clínica (AU)

McArdle disease is a metabolic and genetic disease due to a deficiency of an enzyme responsible for the glycogen metabolism. We report the case of a patient of a 14-year-old patient, who showed blood tests alterations preceding the clinical symptomatology (AU)

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). RESULTS: CTTH were detected in 4/17 WS+VGB+ children (24%), 4/34 WS+VGB- children (12%), 18/296 WS-VGB- children (6%), and 8/112 controls (7%). Independently from the underlying diagnosis, CTTH showed a peak age during early infancy and were not found before 4 months and after 7 years of life. The rate of CTTH among WS children ± VGB therapy was similar so that VGB therapy seems of minor etiological impact. However, comparison of WS patients younger than 25 months of age (CTTH present in 7/40) with age-matched controls (CTTH present in 8/112) revealed that CTTH tend to be more frequent among WS patients in general. CONCLUSIONS: Our study suggests that CTTH represents a physiological maturation-related process. The high prevalence of CTTH among patients with WS indicates that this physiological process may be modified by additional endo- or exogeneous factors.

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. The dose of methylphenidate was gradually increased up to 1.31 ± 0.2 mg/kg/d. At diagnosis, mean weight value was lower than mean weight expected for age by 0.697 kg. This difference increased to 4.274 kg (at 30 months of treatment), although it subsequently decreased to 1.588 kg (at 48 months of treatment). Mean value of height was lower than expected mean height for age by 0.42 cm at diagnosis. This difference increased to 2.69 cm (at 30 months of treatment), but it subsequently decreased to 0.83 cm (at 48 months of treatment). The relationship between nutritional status and the negative effects on the height curve in those patients would require nutritional optimization to return anthropometric variables to normal.

Alucinaciones tras la introducción de metilfenidato en dosis bajas / Hallucinations caused by the introduction of methylphenidate at low doses

No disponible

No disponible

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: epidemiological and clinical characteristics and outcome]. / Convulsiones infantiles asociadas a gastroenteritis leve: características epidemiológicas, clínicas y evolutivas.

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 18.1 months. The female/male ratio was 2.8. The interval between the gastro-enteritis and the seizure was 3.8 days. The mean rectal temperature in the seizure was 37.1 degrees C. The mean number of seizures per hospitalisation was 2.2. Seizures were brief (90.6% < or = 5 min) and 96.8% of them were recorded as generalised. Rotavirus antigenemia in faeces was positive in 55.2% of cases. Lab findings, including the cerebrospinal fluid study, were normal. The electroencephalogram, in an immediate post-seizure situation, showed generalised and/or focal paroxysmal activity in four patients. The mean follow-up time was 4.2 years. The mean age of the group is currently 5.7 years, with normal development and level of schooling. Five patients (20.8%) had recurrences coinciding with new bouts of gastroenteritis. One patient, with a history of maternal epilepsy, was later diagnosed with focal epilepsy, and whether it can be related with the earlier presentation of seizures associated with mild gastroenteritis or not is debatable. CONCLUSIONS; Seizures in children associated with mild gastroenteritis are a well-differentiated convulsive syndrome. Prognosis is excellent, but a relatively important percentage of cases tend to have recurrences if there is a new diarrhoeic process.

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 62.6 cases per 100 000, with the highest incidence (95.3 cases per 100 000) during the first year of life. Fifty-five percent of patients have focal epilepsies, 42.9% generalized epilepsies, and 2.1% undetermined epilepsies. Among infants, West syndrome (45.5%), epilepsies associated with specific syndromes (27.3%), and focal symptomatic epilepsies (13.6%) are the most prevalent syndromes. In early childhood, the main syndromes are focal symptomatic (22.7%) and cryptogenic (21.2%) epilepsies and Doose syndrome (13.6%). Among school-aged children, focal benign epilepsies (27.8%) and cryptogenic and absence epilepsies (18.5% for both) are the most prevalent, with focal cryptogenic epilepsies (26.5%) and benign epilepsies (18.4%) most prevalent among adolescents.

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. Mean age at diagnosis was 5.97 years, and time of follow-up was 4.6 years. Etiology was idiopathic in 166 (45.5%), cryptogenic in 106 (29.0%), and symptomatic in 93 (25.5%). Focal seizures were seen in 52.9% of the patients, generalized epilepsy in 43.5%, and 3.6% were not determined. In infants, West syndrome (34.1%) and focal symptomatic seizures (24.4%) were the most prevalent syndromes. In early childhood, the main syndromes were cryptogenic focal epilepsies (17.7%) and Doose syndrome (12.8%). In school-aged children, benign epilepsies (27.3%) and absences (24.5%) were prevalent. In adolescents, cryptogenic focal epilepsies (26.6%) and benign epilepsies (23.4%).