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Absence seizures in Farber's lipogranulomatosis
S186 in eight cases, and after a convulsive seizure in another one. Their characteristics have been variable in all patients. Maximal duration was 40 hours. The I.V. administration of diazepam and clonazepam has had a transitory effect. During the sleep record we observed that the generalized burst of spikewaves and polyspike-waves had disappeared.
P32.15 A B S E N C E S E I Z U R E S GRANULOMATOSIS.
1N
FARBER'S
LIPO-
A. Hodson and Rosalind Coleman
(Jacksonville, FL, USA) Farber's lipogranulomatosis is an autosomal recessive disease due to deficiency of acid ceramidase associated with generalized storage of lipoprotein; the central nervous system has been involved in all cases. Most children have a rapidly progressive course and die within 3 years; milder cases have survived into their late teens. Central nervous system involvement in severely affected children is maifest by severe mental retardation and infantile spasms. So far, children with the mild form of the disease have had normal intelligence and no seizures. We report a child who presented with the less severe form of acid ceramidase deficiency manifest by hoarseness, swollen joints and cutaneous granulomata. Her mental age at 6 years was 4.9 years (WISC-R). Fibroblast acid ceramidase activity was 5% of control values. Absence seizures manifest by brief interruptions of consciousness associated with eye fluttering developed at the age of 7. Her EEG demonstrated generalized slowing associated with paroxysmal frontocentral spike-slow wave discharges at 3-4.5 Hz. Generalized paroxysmal patterns with frontocentral distribution have been described in other forms of neuronal storage disease. In this case, absence seizures associated with generalized paroxysmal epileptiform discharges may represent a previously undescribed phenotypic expression of neuronal lipoprotein storage in Farber's lipogranulomatosis.
ERPs A N D EEG IN GENERALISED D I S O R D E R S AFFECTING THE C.N.S. P33.01 AN IMPROVED DETECTOR FOR N E R V O U S SYSTEM DYSFUNCTION CA USED BY URAEMIA. J. Persson and Helen Holmgren
(Linki3ping, Sweden) A detector, sensitive to neurophysiologic al changes caused by prolonged renal failure, was designed with the aim of early detection of impairment of nervous system function. The detector yields a distance measure from a reference population (a normal group) and is based on Hotelling's test. Electroencephalogram (EEG), visual evoked potentials
(VEP), sensory nerve conduction velocities (SNCV) and electromyogram (EMG) were compared as measures of uraemic intoxication in a sample of 20 patients with chronic renal failure. Comparisons were made with a group of 20 normals. In VEP, SNCV and EMG significant differences were found between normals and uraemics. Significant dependences on creatinine clearance were found in EEG parameters only. The detector was designed with various parameters from EEG (lead Cz-Pz), VEP and SNCV included. With five parameters, i.e., EEG alpha and theta powers, VEP latency and sensory conduction velocities in the sural and median nerves, a substantial improvement was achieved in the classification of uraemics compared to a single variable classification, with a true positive rate of 75 per cent and a false positive rate of 20 per cent.
P33.02 N E U R O P H Y S I O L O G I C A L STUDY (EEG, VEPS, BLINK-REFLEX, M O T O R A N D S E N S O R Y NERVE COND U C T I O N VELOCITIES) OF PATIENTS S U B M I T r E D TO C H R O N I C P E R I O D I C HAEMODIALYSIS. E. Koutra, E. Stamboulis, N. Monastiriotis, S. Voudiklari and S. Malliara-Loulakaki
(Athens, Greece) Thirty nine patients (16 males and 23 females) with end-stage renal insufficiency, undergoing haemodialysis for a mean period of 37.3_+33.08 months, were submitted to the following examinations: EEG, VEPs, blink-reflex, motor and sensory nerve conduction velocities. The electrophysiological data were correlated with age, haemodialysis duration and serum values of urea and creatinine. The aim of our study was to investigate the neurologic complications of renal disease, even before the manifestation of clinical symptoms. Abnormal EEGs were recorded in 61.5% of our patients which mainly showed bursts of high voltage bilateral delta waves, either on a normal background or on a slow generalized dysrhythmia. VEPs were recorded to checkerboard pattern reversal and were abnormal in 38.5% of the patients (main abnormalities: moderately increased latencies, significant difference of the major peak amplitude between Ol-Cz and O2-Cz, abnormal waveforms). The study of the blink-reflex showed a diffuse dysfunction in 48.8% of the examined subjects without any clinical sign of brain-stem lesion. Motor and sensory nerve conduction velocities were abnormal in 18% and 15% of the patients respectively. No significant correlation was found between neurophysiological findings and the levels of blood biochemical factors, patients" age and haemodialysis duration.
P32.15 A B S E N C E S E I Z U R E S GRANULOMATOSIS.
1N
FARBER'S
LIPO-
A. Hodson and Rosalind Coleman
(Jacksonville, FL, USA) Farber's lipogranulomatosis is an autosomal recessive disease due to deficiency of acid ceramidase associated with generalized storage of lipoprotein; the central nervous system has been involved in all cases. Most children have a rapidly progressive course and die within 3 years; milder cases have survived into their late teens. Central nervous system involvement in severely affected children is maifest by severe mental retardation and infantile spasms. So far, children with the mild form of the disease have had normal intelligence and no seizures. We report a child who presented with the less severe form of acid ceramidase deficiency manifest by hoarseness, swollen joints and cutaneous granulomata. Her mental age at 6 years was 4.9 years (WISC-R). Fibroblast acid ceramidase activity was 5% of control values. Absence seizures manifest by brief interruptions of consciousness associated with eye fluttering developed at the age of 7. Her EEG demonstrated generalized slowing associated with paroxysmal frontocentral spike-slow wave discharges at 3-4.5 Hz. Generalized paroxysmal patterns with frontocentral distribution have been described in other forms of neuronal storage disease. In this case, absence seizures associated with generalized paroxysmal epileptiform discharges may represent a previously undescribed phenotypic expression of neuronal lipoprotein storage in Farber's lipogranulomatosis.
ERPs A N D EEG IN GENERALISED D I S O R D E R S AFFECTING THE C.N.S. P33.01 AN IMPROVED DETECTOR FOR N E R V O U S SYSTEM DYSFUNCTION CA USED BY URAEMIA. J. Persson and Helen Holmgren
(Linki3ping, Sweden) A detector, sensitive to neurophysiologic al changes caused by prolonged renal failure, was designed with the aim of early detection of impairment of nervous system function. The detector yields a distance measure from a reference population (a normal group) and is based on Hotelling's test. Electroencephalogram (EEG), visual evoked potentials
(VEP), sensory nerve conduction velocities (SNCV) and electromyogram (EMG) were compared as measures of uraemic intoxication in a sample of 20 patients with chronic renal failure. Comparisons were made with a group of 20 normals. In VEP, SNCV and EMG significant differences were found between normals and uraemics. Significant dependences on creatinine clearance were found in EEG parameters only. The detector was designed with various parameters from EEG (lead Cz-Pz), VEP and SNCV included. With five parameters, i.e., EEG alpha and theta powers, VEP latency and sensory conduction velocities in the sural and median nerves, a substantial improvement was achieved in the classification of uraemics compared to a single variable classification, with a true positive rate of 75 per cent and a false positive rate of 20 per cent.
P33.02 N E U R O P H Y S I O L O G I C A L STUDY (EEG, VEPS, BLINK-REFLEX, M O T O R A N D S E N S O R Y NERVE COND U C T I O N VELOCITIES) OF PATIENTS S U B M I T r E D TO C H R O N I C P E R I O D I C HAEMODIALYSIS. E. Koutra, E. Stamboulis, N. Monastiriotis, S. Voudiklari and S. Malliara-Loulakaki
(Athens, Greece) Thirty nine patients (16 males and 23 females) with end-stage renal insufficiency, undergoing haemodialysis for a mean period of 37.3_+33.08 months, were submitted to the following examinations: EEG, VEPs, blink-reflex, motor and sensory nerve conduction velocities. The electrophysiological data were correlated with age, haemodialysis duration and serum values of urea and creatinine. The aim of our study was to investigate the neurologic complications of renal disease, even before the manifestation of clinical symptoms. Abnormal EEGs were recorded in 61.5% of our patients which mainly showed bursts of high voltage bilateral delta waves, either on a normal background or on a slow generalized dysrhythmia. VEPs were recorded to checkerboard pattern reversal and were abnormal in 38.5% of the patients (main abnormalities: moderately increased latencies, significant difference of the major peak amplitude between Ol-Cz and O2-Cz, abnormal waveforms). The study of the blink-reflex showed a diffuse dysfunction in 48.8% of the examined subjects without any clinical sign of brain-stem lesion. Motor and sensory nerve conduction velocities were abnormal in 18% and 15% of the patients respectively. No significant correlation was found between neurophysiological findings and the levels of blood biochemical factors, patients" age and haemodialysis duration.