1,721,049 research outputs found
Fisiopatologia del dolore.Ruolo dei neurotrasmettitori e dei farmaci analgesici
No full textStudio degli aspetti neurofisiologici e recettoriali nella fisiopatologia del dolor
Apnee e sincopi
No full textFisopatologia e diagnosi differenziale nelle Apnee e Soncopi in età pediatrica
Nistagmo tardivo e Nistagmo neurologico.
No full textCasistica e revisione delle cause legate a nistagmo fisiologico e patologico nel neonato e nel bambino
Ipotonia nel primo anno di vita.
No full textDiagnosi diferrenziale delle ipotonie nel primo anno di vita
Calcium-channel blocker verapamil administration in prolonged and refractory status epilepticus
No full textWe report on an 11-year healthy boy who presented refractory status epilepticus (SE), which was unresponsive to conventional antiepileptic drugs used in the algorithm of the treatment of SE. Based on evidence that verapamil has anticonvulsant activity in animal models and the fact that the boy had a supraventricular tachycardia (140-160 b/min), i.v. verapamil (0.034 mg/min) was administered on day 37, and after a 3.125 mg cumulative verapamil dose (1.5 hour after initiation of the infusion), the patient regained consciousness was able to breathe spontaneously and the electrical SE promptly disappeared. The apparent dramatic response to i.v. verapamil may be explained by its direct anticonvulsant action on the basis of the potential involvement of calcium channels in epileptic activity and that verapamil, a known Pgp inhibitor in the cerebrovascular endothelium in the epilepticus focus, acted by facilitating the brain penetration of the antiepileptic drugs that our patient was receiving simultaneously
Pigmentary Mosaicism, Subcortical Band Heterotopia, and Brain Cystic Lesions
No full textA 10-year-old boy presented with a severe and diffuse mosaic skin hypopigmentation running (in narrow bands) along the lines of Blaschko associated with mosaic areas of alopecia, facial dysmorphism with midface hypoplasia, bilateral punctate cataract, microretrognathia, short neck, pectus excavatum, joint hypermobility, mild muscular hypotonia, generalized seizures, and mild mental retardation. Cranial magnetic resonance imaging revealed hypoplastic corpus callosum (primarily 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 similar to q23)], lissencephaly (PAFAH1B1, alias LIS1, at 17p13.3), and oculocerebrorenal syndrome of Lowe (OCRL at Xq23 similar to q24)] were unrevealing. This constellation of multiple congenital anomalies including ski
Bilateral Periventricular Nodular Heterotopia with Amniotic Band Syndrome
No full textThe amniotic (constriction) band syndrome is characterized by distal ring constrictions, intrauterine amputations, and acrosyndactyly. External constriction by amniotic bands is the generally accepted mechanism: early amniotic rupture leads to formation of mesodermal fibrous strands that constrict, entangle, and amputate distal portions of limbs. Etiology is heterogeneous. Anecdotal cases involving central nervous system abnormalities (e.g., acrania, anencephaly, polymicrogyria, congenital bilateral perisylvian syndrome, neuronal heterotopia, septo-optic dysplasia, and spinal cord tethering) have been reported. We describe a 9-year-old girl with typical features of constriction band syndrome localized to the lower limbs who had also profound mental retardation and drug-resistant epilepsy associated with bilateral periventricular nodular heterotopia (a brain malformation of neuronal migration and proliferation caused by mutations in the X-linked filamin 1 gene [FLN1] on chromosome Xq28). The karyotype was normal, as was mutational screening for FLN1. The occurrence of bilateral periventricular nodular heterotopia in the context of amniotic band syndrome is novel (chance occurrence of both: 0.000004%). © 2007 Elsevier Inc. All rights reserved
Neuronal Heterotopia
No full textIn questa Lettera all'Editore viene discusso il potenziale ruolo dei disordini di migrazione neuronale nella epilessia della età evolutiva e della farmacoresistenz
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