Rui Chorão

Infantile neuroaxonal dystrophy: What's most important for the diagnosis?

BACKGROUND AND AIMS Infantile neuroaxonal dystrophy is a rare neurodegenerative disorder, with onset in the first 2 years of life. Mutations in the PLA2G6 gene were identified in patients with infantile neuroaxonal dystrophy. Our purpose was to review clinical, neurophysiologic, neuroradiologic and neuropathological features of our patients in order to identify the earliest signs of disease. We also correlate these data with the genotype in the mutation positive patients. METHODS We reviewed the clinical reports, neurophysiologic and neuropathological studies and brain imaging of our patients. In five patients molecular analysis of the PLA2G6 gene was performed. RESULTS We report 10 patients with infantile neuroaxonal dystrophy. Earliest symptoms presented between 6 and 18 months of age. The first manifestations were arrest in the acquisition of milestones or regression. The first neurological signs were generalized hypotonia and pyramidal signs. Fast rhythms on EEG were observed in all patients. Brain imaging studies showed cerebellar atrophy in all patients, with signal hyperintensity in the cerebellar cortex on T2-weighted images in five. All cases had characteristic axonal spheroids on skin biopsy. Mutations in the PLA2G6 gene were identified in the five patients studied. Three of them had the same homozygous mutations 2370T> G, Y790X. CONCLUSIONS Though mutations were detected in the patients studied, a clear genotype-phenotype correlation could not be ascertained. In the appropriate clinical context, characteristic brain imaging and fast rhythms on EEG can support the decision to perform molecular analysis and avoid skin biopsy to confirm diagnosis.

WO46 Neurophysiologic studies in infantile neuroaxonal distrophy: retrospective review of five patients carrying PLA2G6 mutations

Results: Nine children were studied. Adherence was difficult during early days of treatment in most cases. The use was variable, an average of 4 days per week (+/3 days) The average nightly use was in two cases 8-9 hours and 7 cases 2-3 hours. Parents reported children improvement in school performance and daytime behaviour. Conclusion: In our study the adherence was difficult during the early of treatment, but the effectiveness despite a short time of use was good Additional research is very important to develop methods to improve adherence in children who requires CPAP.

P09.5 EEG findings in patients with mutations in the MECP2 gene

diabetes was recently diagnosed (within 12 month) whereas 4 children had a longer duration of disease (>5 years). None of the patients showed clinical signs of peripheral neuropathy other than decreased deep tendon reflexes. The study protocol included testing of median, ulnar, peroneal and tibial motor nerve conduction velocities (NCVs), M-response amplitudes, as well as conventional EMG and SFEMG of anterior tibial muscle. A control group included 10 healthy children who underwent motor nerve conduction studies (NCS). Results: While the NCS showed near normal NCVs with reduced M-response amplitudes (compared with age matched control subjects), conventional EMG revealed denervation activity (fibrillation potentials) and signs of reinnervation. In addition, SFEMG revealed an increased jitter and difference in latencies by stimulation tests. Conclusions: Subclinical peripheral nerve abnormalities (mainly axonal, which may occur independently from focal or diffuse demyelination) may develop in children with diabetes type I who show frequent and/or prolonged episodes of hypoglycemia. SFEMG may also be abnormal in subjects whose conventional EMG shows subclinical peripheral nerve (mainly axonal) dysfunction.

Primary Headaches in Epileptic Patients

Material and methods We mailed a standardised questionnaire to 200 randomised patients of our Epilepsy Outpatient Clinic with idiopathic or criptogenic syndromes according to the International Classification of Epilepsies and Epileptic Syndromes of the ILAE. Patients with symptomatic or benign epilepsies were excluded, as well as those mentally retarded, illiterate or younger than 16 years. The answers were evaluated blindly by two of the authors and the headaches were classified according to the Classification of the international Headache Society.