Hugo Arroyo

Long-term follow-up of the ketogenic diet for refractory epilepsy: multicenter Argentinean experience in 216 pediatric patients.

PURPOSE In this Argentinean retrospective, collaborative, multicenter study, we examine the efficacy and tolerability of the ketogenic diet (KD) for different epilepsy syndromes. MATERIALS AND METHODS we evaluated the clinical records of 216 patients started on the KD between March 1, 1990 and December 31, 2010. RESULTS One hundred forty of the initial patients (65%) remained on the diet at the end of the study period. Twenty-nine patients (20.5%) became seizure free and 50 children (36%) had a 75-99% decrease in seizures. Thus, 56.5% of the patients had a seizure control of more than 75%. The best results were found in patients with epilepsy with myoclonic-astatic seizures, Lennox-Gastaut syndrome, and West syndrome. Good results were also found in patients with Dravet syndrome, in those with symptomatic focal epilepsy secondary to malformations of cortical development, and in patients with tuberous sclerosis. Seizures were significantly reduced in four patients with fever-induced refractory epileptic encephalopathy in school-age children and in two patients with epileptic encephalopathy with continuous spikes and waves during slow sleep. The median period of follow-up after discontinuation of the diet was 6 years. Twenty patients who had become seizure free discontinued the diet, but seizures recurred in five (25%). Of 40 patients with a seizure reduction of more than 50% who discontinued the diet, 10 presented with recurrent seizures. CONCLUSION The ketogenic diet is a good option in the treatment of refractory epilepsy. After discontinuing the diet, seizures recurrence occurred in few patients.

Epilepsy, occipital calcifications, and oligosymptomatic celiac disease in childhood.

The association of epilepsy, occipital calcifications, and celiac disease has been recognized as a distinct syndrome. The objective of this study was to present the clinical, electrophysiologic, and neuroradiologic features in a series of patients with this syndrome. Thirty-two patients with the constellation of epilepsy, occipital calcifications, and celiac disease were identified in our epilepsy clinic. The mean age was 11 years and the mean length of follow-up was 7.4 years. The 1990 criteria of the European Society of Pediatric Gastroenterology and Nutrition were used to diagnose celiac disease. The Kruskal-Wallis statistics test was employed with a significance of P < .05. Thirty-one patients had partial seizures, 21 of them with symptoms related to the occipital lobe. In most patients, the epilepsy was controlled or the seizures were sporadic. Three developed severe epilepsy. Occipital calcifications were present in all cases. Computed tomography in 7 patients showed hypodense areas in the white matter around calcifications, which decreased or disappeared after a period of gluten-free diet in 3 patients. A favorable outcome of epilepsy was detected in patients with the earliest dietary therapy. This study presents the largest series of children with this syndrome outside Italy. White-matter hypodensities surrounding calcifications are rarely reported. A prompt diagnosis of celiac disease might improve the evolution of the epilepsy and may improve cognitive status. (J Child Neurol 2002;17:800—806).

Migrating Focal Seizures in Infancy : Analysis of the Electroclinical Patterns in 17 Patients

We describe the electroclinical features, therapy, and long-term evolution of 17 patients with migrating focal seizures in infancy, and analyzed the charts of these patients seen between February 1985 and July 2005. Three different electroclinical patterns were recognized: (1) 8 cases with alternating simple focal motor seizures at onset. The ictal electroencephalography (EEG) pattern was characterized by recurrence of rhythmic focal spikes or rhythmic sharp activity in the Rolandic region; (2) 5 cases with complex focal seizures and progressive appearance of polymorphic δ-θ activity in 1 temporo-occipital region recurring independently; (3) 4 cases with focal complex seizures with motor manifestations. Ictal EEG showed flattening or fast activity in 1 frontotemporal region followed by unilateral fast poly-spikes in alternating clusters in both hemispheres. The focal seizures were refractory to antiepileptic drugs, and all patients except 3 had severe developmental delay. Migrating focal seizures in infancy is a newly defined and rare, but underrecognized, epileptic encephalopathy.

Myoclonic Status in Nonprogressive Encephalopathies: Study of 29 Cases

Summary:  Purpose: Myoclonic status in nonprogressive encephalopaties (MSNE) is characterized by recurrence of long‐lasting myoclonic status appearing in infants and young children with nonprogressive encephalopathy. Here, we describe the electroclinical features and evolution of MSNE.

Neurofibromatosis type one and West syndrome : a relatively benign association

Summary: Fifteen patients with neurofibromatosis type one (NF1) and West syndrome (WS) were studied. The evolution of WS was clearly different from that seen in the other neurocutaneous syndromes, especially tuberous sclerosis. Steroids were efficacious and spasms disappeared. There was no relapse after discontinuation of steroids and antiepileptic drugs were succesfully stopped several years later. Mental outcome was also very good. The association of both conditions does not seem to be a coincidence. WS with NF1 seems remarkably benign and resembles idiopathic WS more than symptomatic WS.

Basal Ganglia and Internal Capsule Stroke in Childhood—Risk Factors, Neuroimaging, and Outcome in a Series of 28 Patients: A Tertiary Hospital Experience

We present 28 patients with basal ganglia ischemic stroke and describe the main neurological manifestations, neuroimaging findings, risk factors, and outcome. In 23 cases, at least 1 risk factor was identified. A total of 7 cases (25%) had antecedent of varicella infection and 7 cases (25%) had preceding mild head trauma. Similar antecedents were present only in 2.6% and 5.3% of patients with nonbasal ganglia stroke, respectively (odds ratio: 12.2, 95% confidence interval: 2.04-124.65 and odds ratio: 5.92, 95% confidence interval: 1.32-29.7). The arterial abnormalities identified in 10 patients were narrowing (6) or occlusion (4) of the M1 segment. After a median follow-up of 24 months, 19 patients had a good outcome. Magnetic resonance angiography and catheter cerebral angiography played an important role in the identification of arterial disease. We propose that basal ganglia infarction is a different group of ischemic stroke with prevalent risk factors (varicella infection and mild head trauma) and good outcome.

Accidental Cerebral Venous Gas Embolism in a Young Patient With Congenital Heart Disease

This article describes an 11-year-old girl with a diagnosis of Ebsteins anomaly. Glenn and Fontan surgeries were performed successfully. She had a generalized tonic-clonic seizure after peripheral intravenous infusion under pressure. A computed tomography brain scan performed 30 minutes later showed multiple serpiginous hypodensities in the cortical sulci and in the superior longitudinal sinus compatible with cerebral venous gas embolism. At follow-up 1 month later, the girl had severe motor impairment. Cerebral gas embolism should be considered in a patient with risk factors and acute neurological symptoms in order to select the treatment of choice, hyperbaric oxygen, and reduce damage to brain tissues.

Krabbe Disease in Monozygotic Triplets

The authors report an extremely rare case of monozygotic triplets with globoid cell leukodystrophy (Krabbe disease). Born to healthy, non‐related, heterozygous parents, all three girls presented with typical signs of β‐galactocerebrosidase deficiency before one year of age and died within the first 41 months of life. The literature is briefly reviewed.

Response to Correspondence, “Factors Facilitating Retrograde Cerebral Venous Air Embolism”

We appreciated the interest and the comments on our case report of an accidental cerebral venous air embolism in a young patient with Ebstein’s anomaly. When we mentioned that 1 of the probable mechanisms that could contribute to a retrograde cerebral venous air embolism was the absence of valves in this territory, we were referring to the cerebral venous sinus. It is true that, in order for the bubbles to reach the central venous circulation, they have to pass through internal jugular valves. Nedelmann et al reported an adult with retrograde venous gas embolism. The mechanism described was jugular valve insufficiency. The authors emphasized the role of valvular insufficiency as a prerequisite for cerebral air embolism. However, Pérez de Manzo et al found in a series of 46 human autopsies that the valves of jugular veins were absent in 53% of the cases. As it seems that the absence of valves is common, we could consider it as the most likely risk factor for retrograde air embolism.

Neurofibromatosis type one and West syndrome: a relatively benign association

Fifteen patients with neurofibromatosis type one (NF1) and West syndrome (WS) were studied. The evolution of WS was clearly different from that seen in the other neurocutaneous syndromes, especially tuberous sclerosis. Steroids were efficacious and spasms disappeared. There was no relapse after discontinuation of steroids and antiepileptic drugs were successfully stopped several years later. Mental outcome was also very good. The association of both conditions does not seem to be a coincidence. WS with NF1 seems remarkably benign and resembles idiopathic WS more than symptomatic WS.