Victor Ruggieri

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).

Infantile spams without hypsarrhythmia: A study of 16 cases

UNLABELLED In this study, we present the electroclinical features and evolution of patients with epileptic spasms (ES) in clusters without hypsarrhythmia and with or without focal or generalized paroxysmal discharges on the interictal EEG. We also discuss how to nosologically define these cases. METHODS Between February 1, 1990, and December, 2009, sixteen patients met the electroclinical diagnostic criteria of ES in clusters without hypsarrhythmia. RESULTS ES were cryptogenic in thirteen patients and symptomatic in three. Age at onset of ES was between 4 months and 30 months, with a mean age of 9 months and a median age of 7 months. Seven patients had seizures before the onset of ES. Focal spikes were observed in seven patients, bilateral spikes and spikes and waves in five, multifocal spikes in two, and two patients had a normal EEG. The ictal EEG recording showed diffuse high-amplitude slow waves in ten patients, diffuse slow waves followed by voltage attenuation in four patients, and diffuse fast rhythms in two. ES were cured in five patients. Mean follow-up was 6 years. Neuropsychological development has been normal in the five latter patients. Eleven patients continue with seizures refractory to antiepileptic drugs after a mean follow-up of 10 years. Of these eleven patients, five have severe mental retardation, three have moderate mental retardation, and two have mild mental retardation. All of them show behavioral disturbances. CONCLUSION The patients in this series may be considered to have a variant of West syndrome rather than an electroclinically distinct epileptic syndrome.

Severe Charcot-Marie-Tooth neuropathy type 1A with 1-base pair deletion and frameshift mutation in the peripheral myelin protein 22 gene.

A 27‐year‐old man with negative family history and both parents with normal neurological evaluation and motor nerve conduction velocities (MNCVs) showed onset of severe weakness of feet at 4 years of age. Subsequently he developed left equinovarus deformity, thoracic scoliosis, ulnar nerve enlargement, areflexia, distal hypesthesia and slowing of MNCVs for median and ulnar nerves (15–25 m/sec). Molecular genetic studies showed deletion of one nucleotide (G330) (codon 94) in exon 3 of the PMP22 gene associated with frameshift mutation.