1,721,050 research outputs found
Diffuse onset of ictal electroencephalography in a typical case of Panayiotopoulos syndrome and review of the literature.
No full textPanayiotopoulos syndrome is a common and benign childhood autonomic epilepsy of debated localization. Although officially considered as occipital epilepsy, this is most likely of multifocal origin. Ictal electroencephalography is the gold standard of seizure localization, but in Panayiotopoulos syndrome, because patients have single or rare seizures, only 7 cases with ictal electroencephalography have been reported. Ictal onsets show variable anterior and more often posterior locations. We describe an 8-year-old girl with 5 nocturnal autonomic seizures typical of Panayiotopoulos syndrome from age 4. The last seizure was captured with electroencephalography and showed a diffuse onset of the ictal discharge, whereas various interictal electroencephalography had infrequent multifocal spikes. This case contributes to the understanding of the pathophysiology of Panayiotopoulos syndrome in favor of a diffuse and multifocal cortical epileptogenicity that triggers an unstable central autonomic nervous system solely or prior to the focal cortical symptoms
Addition of verapamil in the treatment of severe myoclonic epilepsy in infancy
No full textWe report on the use of the voltage-gated calcium channel blocker (Vg-CCB), verapamil, as an add-on anticonvulsant medication in two girls, 4 and 14 years of age, who were affected by severe myoclonic epilepsy in infancy (SMEI) or Dravet syndrome, a channelopathy caused by abnormalities in the voltage-gated sodium channel neuronal type α1 subunit (SCN1A) gene at 2q24. Both girls had pharmacoresistant epilepsy and developmental delay. Mutation analysis for the SCN1A gene revealed a missense mutation in exon 2 in the 4-year-old girl. Verapamil was co-administered in both children with a prompt response in controlling status epilepticus, myoclonic jerks, and partial and generalized seizures. The therapeutic effect lasted 13 months in the 14-year-old girl, while it is still present after a 20-month follow-up period in the 4-year-old girl who, in addition, has experienced improvement in motor and language development. The verapamil vVg-CCB, which crosses the blood-brain barrier (BBB): (a) inhibits the P-glycoprotein, an active efflux transporter protein expressed in normal tissue, including the brain, which is believed to contribute to the in situ phenomenon of multidrug resistance; and (b) may regulate membrane depolarization induced by abnormal sodium channels functions by modulating the abnormal Ca++ influxes into neurons with subsequent cell resting. This is the first report on long-lasting verapamil therapy in SMEI. The functional consequences of such in vivo modulating effects on Ca++ channels could contribute to rational targeting for future molecular therapeutic approaches in pharmacoresistant epileptic channelopathies. © 2009 Elsevier B.V. All rights reserved
Pigmentary mosaicism, subcortical band heterotopia, and brain cystic lesions
No full textA10-year-old boy presented with a severe and diffuse
mosaic skin hypopigmentation running(in narrow
bands)along the lines of Blaschko associated with mo-
saic areas of alopecia,facial dysmorphism with midface
hypoplasia,bilateral punctate cataract,microretrogna-
thia,short neck,pectus excavatum,joint hypermobility,
mild muscular hypotonia,generalized seizures,and
mild mental retardation.Cranial magnetic resonance
imaging revealed hypoplastic corpus callosum(primar-
ily posterior),subcortical band heterotopia,and diffuse
subcortical,periventricular cystic-like lesions.Similar
dysmorphic features were observed in the child’s
mother,but with no imaging abnormalities.The facial
phenotype coupled with the cysts in the brain was
strongly reminiscent of the oculocerebrorenal Lowe
syndrome.Full chromosome studies in the parents
and the proband and mutation analysis on peripheral
blood lymphocytes(and on skin cultured fibroblasts
from affected and unaffected skin areas in the child)
in the genes for subcortical band heterotopia(DCX
(Xq22.3-q23)],lissencephaly(PAFAH1B1,alias LIS1,
at17p13.3),and oculocerebrorenal syndrome of Lowe
(OCRL atXq23-q24)]were unrevealing.This constel-
lation of multiple congenital anomalies including skin
hypopigmentation and eye,musculoskeletal,and ner-
vous system abnormalities was sufficiently character-
ized to be regarded as a novel example of pigmentary
mosaicism of the Ito type(i.e.,hypomelanosisof
Ito)
Leptin, ghrelin, and adiponectin in epileptic patients treated with valproic acid
No full textThe authors studied 40 epileptic patients treated with valproate and 40 healthy controls for at least 2 years. At the end of follow-up, 15 epileptic patients (37.5%) had development of obesity. They showed circulating leptin and insulin levels significantly higher and ghrelin and adiponectin levels significantly lower than those of patients who did not gain weight. Copyright © 2005 by AAN Enterprises, Inc
Residual and persistent Adie’s pupil after pediatric ophthalmoplegic migraine
No full textWe report on a 9-year-old girl diagnosed with ophthalmoplegic migraines who had been previously diagnosed, at age 7 years, with typical migraines with aura. After resolution of the third ophthalmoplegic migraine attack, the only evident residual clinical sign was Adie’s pupil. During 24-month follow-up, at age 11 years, a neurologic examination produced completely normal results. However, Adie’s pupil persisted. Adie’s tonic pupil can be associated with extraocular diseases, which were all excluded in this patient. The mechanisms underlying tonic pupil are not fully understood. This is the first
report, to the best of our knowledge, of an ophthalmoplegic migraine followed by persistent Adie’s pupil. Possible
pathogenic mechanisms are discussed
Lissencephalic syndromes: brain and beyond
Full text linkLissencephaly has been long maintained a malformation involving only the brain. Classic lissencephaly includes agyria and pachygyria and it is the most severe form of malformations derived from abnormal neuronal migration. It is defined as a smooth or nearly smooth cerebral surface with absence of normal sulci and gyria. It encompasses a group of syndromes which show many different clinical conditions. Four groups are actually distinguished: classic lissencephaly variants, other lissencephalies including forms with unknown pathogenesis, microlissencephaly spectrum and Cobblestone cortical malformations. Several genes and proteins are involved in this syndromic spectrum and each year new molecular data are reported in the literature: classifications in this sense are always in progress. Lissencephaly now is recognised to involve not only the brain but also several other organs and districts including eyes, face, muscles, genital organs, heart and bones. Mental retardation and different form of epilepsies usually drug-resistant are the main clinical signs. The Authors in this topic discuss on this subject, underlying the different forms of lissencephaly their wide heterogeneity and the complex involvement of several organ
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