Daniela Galimberti

Childhood absence epilepsy: evolution and prognostic factors.

Summary:  Purpose: To evaluate how diagnostic criteria influence remission rates for patients with childhood absence epilepsy (CAE) and to assess clinical and EEG parameters as predictors of outcome.

Serum levels of chitotriosidase as a marker of disease activity and clinical stage in sarcoidosis

Grosso S, Margollicci MA, Bargagli E, Buccoliero R, Perrone A, Galimberti D, Morgese G, Balestri P, Rottoli P. Serum levels of chitotriosidase as a marker of disease activity and clinical stage in sarcoidosis. 2004; 64: 57-62. Background: Sarcoidosis is a systemic granulomatous disease characterized by T-lymphocyte activation and lymphocyte migration into involved organs, usually the lungs. The amounts of a number of biochemical markers, such as angiotensin converting enzyme (ACE) activity, increase in the serum of patients with sarcoidosis. Chitotriosidase is an enzyme secreted by activated macrophages able to catalyze the hydrolysis of both chitin and chitin-like substrates. Chitotriosidase is involved in defense against, and in degradation of chitin-containing pathogens such as fungi, nematodes, and insects. Methods: Forty-three patients affected by chronic sarcoidosis, in active (23 patients) or inactive (20 patients) phase, were studied. Serum levels of chitotriosidase and ACE activity were evaluated and compared with those of 32 healthy subjects. Serum chitotriosidase concentration and ACE activity were also correlated with radiographic stage of disease. Results: Individuals with chronic sarcoidosis have higher serum chitotriosidase concentrations and ACE activity than those of normal subjects. Sarcoidosis patients in the active phase of the disease had significantly higher chitotriosidase and ACE levels than those in the inactive phase. In contrast to serum ACE activity, a significant relationship between serum levels of chitotriosidase and the four radiographic stages of the disease was observed. Conclusion: Although the data need to be validated by further investigation, the observations made in this study seem to indicate that serum chitotriosidase concentrations may be a useful marker for monitoring sarcoidosis disease activity and prognosis.

Efficacy and safety of topiramate in infants according to epilepsy syndromes

Studies of the efficacy of topiramate (TPM) in infants and young children are few. Here we report an open, prospective, and pragmatic study of effectiveness of TPM in terms of epilepsy syndromes, in children aged less than 2 years. The median follow-up period was 11 months. We enrolled 59 children in the study: 22 affected by localization-related epilepsy (LRE), 23 by generalized epilepsy, six by Dravets syndrome, and eight with unclassifiable epilepsy. TPM was effective (responders showed a decrease of more than 50% in seizure frequency) in 47% of patients, including 13% who were seizure-free at the last visit. TPM was more effective in localization-related epilepsy (48% of responders) than in generalized epilepsy (32% of responders). In the latter group, 19 patients suffered from infantile spasms. Four of six patients with cryptogenic infantile spasms became seizure-free. Of the 13 patients with symptomatic infantile spasms, only one was seizure-free. Results were poor for patients with Dravets syndrome. In general, TPM was well tolerated. The most frequently reported adverse effects were drowsiness, irritability, hyperthermia, and anorexia. The present study concludes that TPM is effective for a broad range of seizures in infants and young children and represents a valid therapeutic option in this population.

Non-progressive leukoencephalopathy with bilateral anterior temporal cysts: a case report and review of the literature

A newly described disease is characterized by anterior bilateral temporal lobe cysts associated with multilobar leukoencephalopathy and a non-progressive clinical course. We report a patient with bilateral anterior temporal lobe cystic changes associated with a non-progressive neurological disorder, microcephaly, spasticity, mental retardation, and sensorineural deafness. From the literature, 12 other patients have shown a similar phenotype. The common neuroradiological findings in these patients have been bilateral anterior temporal lobe cystic changes and non-progressive leukoencephalopathy. By contrast, variability in the clinical phenotype has been observed, ranging from severe neuromotor handicap with mental retardation and microcephaly to spasticity in the lower limbs associated with normal cognitive function. The pathological basis of the defect remains to be defined.

Epilepsy and Electroencephalographic Findings in Pericentric Inversion of Chromosome 12

Epilepsy, together with mental retardation, represents a common manifestation of chromosomal aberrations. Specific electroencephalographic (EEG) and epileptic patterns have been described in several chromosomal disorders, such as Angelmans syndrome, Miller-Dieker syndrome, Wolf-Hirschhorn syndrome, and ring 20 syndrome. A peculiar electroclinical pattern has also been identified in trisomy 12p syndrome. We report three patients with a pericentric inversion of chromosome 12, with breakpoints localized to p11-q13 and affected by epilepsy or EEG anomalies. Two suffered from epilepsy, which, in the clinical course, was mainly characterized by complex partial seizures with a semiology related to the temporal lobe. In one patient, myoclonic absences, head drop, and massive jerky attacks were also present. In both patients, generalized 3 Hz bursts were registered, together with multifocal and focal paroxysmal activity, which were most prominent in the temporoparietal and temporal areas, respectively. In the other patient, who had no epilepsy, EEG showed bioccipital paroxysmal activity. In all patients, the clinical picture was characterized by the presence of moderate mental retardation and behavioral disorders. The incidence of epilepsy or EEG anomalies among patients with a pericentric inversion of chromosome 12 remains to be ascertained. However, the present study confirms that chromosome 12 anomalies can be associated with epilepsy. Although myoclonic absence-like episodes can occasionally be part of the epileptic phenotype, the electroclinical pattern in pericentric inversion of chromosome 12 seems to be more polymorphic when compared with that observed in trisomy 12p syndrome. (J Child Neurol 2004;19:604-608).

Typical absence seizures associated with localization-related epilepsy: A clinical and electroencephalographic characterization

INTRODUCTION This paper describes the characteristics of patients with typical absence seizures associated with localization related epilepsy (LRE) and compares electroclinical features of absences occurring in these patients with those having childhood absence epilepsy (CAE). METHODS Consecutive patients presenting with both LRE and typical absences in their epilepsy history were included in the study (Group 1). Clinical assessments and EEG investigations were conducted during the follow-up. Patients observed during the same period, but with typical absences fulfilling the CAE diagnostic criteria, were assigned to a second group (Group 2). RESULTS Fourteen patients were included in Group 1. These patients had a mean age at their last visit of 11.3 years (range 7.2-16.8), with a mean follow-up period of 6.8 years. In all patients LRE was the first type of seizure to occur at median age of 4.95+/-2.1 years (range 1.9-8.8). Typical absences appeared at median age of 7.5+/-2.5 years (range 4.5-12.5), and were well controlled by therapy. Ictal EEG and semiology features of typical absences did not show any distinctive features when compared to those of Group 2 represented by 53 patients affected by CAE. However, age at onset was significantly higher in Group 1, as was the number of patients who underwent polytherapy, and the number with relapses after drug discontinuation. None of patients in Group 1 showed terminal remission. CONCLUSION Although clinically heterogeneous and rare, the association of LRE with typical absences may be more than coincidental. In these patients, typical absences responded well to therapy, but terminal remission rates were lower than for CAE patients.

Hemodynamic and Anatomic Variations Require an Adaptable Approach during Intra-Arterial Chemotherapy for Intraocular Retinoblastoma: Alternative Routes, Strategies, and Follow-Up

BACKGROUND AND PURPOSE: Intra-arterial chemotherapy for retinoblastoma is not always a straightforward procedure, and it may require an adaptable approach. This study illustrates strategies used when the ophthalmic artery is difficult to catheterize or not visible, and it ascertains the effectiveness and safety of these strategies. MATERIALS AND METHODS: A retrospective study was performed on a series of 108 eyes affected by intraocular retinoblastoma and selected for intra-arterial chemotherapy (follow-up range, 6–82 months). We recognized 3 different patterns of drug delivery: a fixed pattern through the ophthalmic artery, a fixed pattern through branches of the external carotid artery, and a variable pattern through either the ophthalmic or the external carotid artery. RESULTS: We performed 448 sessions of intra-arterial chemotherapy, 83.70% of them through the ophthalmic artery and 16.29% via the external carotid artery. In 24.52% of eyes, the procedure was performed at least once through branches of the external carotid artery. In 73 eyes, the pattern of drug delivery was fixed through the ophthalmic artery; for 9 eyes, it was fixed through branches of the external carotid artery; and for 17 eyes, the pattern was variable. Statistical analysis did not show any significant difference in the clinical outcome of the eyes (remission versus enucleation) treated with different patterns of drug delivery. Adverse events could not be correlated with any particular pattern. CONCLUSIONS: Alternative routes of intra-arterial chemotherapy for intraocular retinoblastoma appear in the short term as effective and safe as the traditional drug infusion through the ophthalmic artery.