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Nathan Watemberg

Publications and source records attributed to Nathan Watemberg.

33 records · Page 2Linked to original sources
PubMed2004

Familial hyperekplexia and refractory status epilepticus: a new autosomal recessive syndrome.

Hyperekplexia is a rare disorder characterized by an exaggerated startle response to noise and handling and by neonatal hypertonia. It is predominantly an autosomal dominant disease; however, atypical cases with additional variable manifestations have been reported. We report a hitherto undescribed association of hyperekplexia and refractory status epilepticus in two siblings. Both children were born after an uneventful pregnancy to healthy unrelated Ashkenazi Jews. Both had increased startle and tone from birth and later became hypotonic. A metabolic evaluation, including a muscle biopsy, was normal. At the age of 18 months and 12 months, respectively, they developed status epilepticus refractory to all treatment that culminated in death. An autopsy in the girl did not reveal any brain pathology. The unusual association of hyperekplexia and refractory status epilepticus in both children suggests that this is a new autosomal recessive syndrome, possibly a channelopathy affecting both the brain and the spinal cord.

Female↗
PubMed2004

[Ketogenic diet as antiepileptic therapy: a description of the clinical experience and the multidisciplinary approach at the metabolic-neurogenetic clinic at the Wolfson Medical Center].

UNLABELLED: The ketogenic diet, built on a menu that includes a high fat content and low protein and carbohydrate percentages, constitutes an alternative therapy for children with refractory epilepsy. This study describes our clinical experience with the diet, its efficacy, and the adverse effects associated with this treatment modality, which is mainly indicated in patients who do not respond to conventional antiepileptic drugs (AEDs). We place particular emphasis on our multidisciplinary approach, which includes physicians, nurses, social workers, and dieticians. A chart review was performed on all pediatric patients who received the diet in our clinic between 1998 and 2003. We recorded the patients' demographic data, the age at epilepsy onset, the age of the patient at the time the diet was started, the characteristics of the epilepsy, the seizure frequency, the AEDs prior to and during the diet, the patient and family compliance, and the adverse effects. RESULTS: Ten patients were treated. The youngest patient was 8 months old and the oldest was 19 years old at the onset of the diet. Eight children suffered from a well-defined epileptic syndrome. All children had frequent seizures and received between 2 and 9 AEDs prior to the diet. The duration of the diet ranged between 6 weeks and two and a half years. Seven patients experienced over 50% seizure reduction while on the diet. However, total seizure control was not attained in any patient. Adverse effects were minimal. All the patients complied with this rigid diet in a good or excellent manner. Furthermore, we also observed an improvement in the degree of alertness, learning skills, and developmental milestones in most of the children. The diet failed to provide satisfactory seizure control or improvement in the well-being of 3 patients. In conclusion, the ketogenic diet is an effective therapeutic alternative for children with refractory epilepsy, irrespective of the patient's age, gender or disease duration. We attribute our therapeutic success with the diet to the multidisciplinary approach carried out in our clinic.

Adolescent↗
PubMed2003

Familial optic atrophy with white matter changes.

We report two brothers who suffer from infantile onset optic atrophy and blindness. MRI of the brain demonstrated periventricular white matter changes in both children. Neurological and developmental examination are normal. Extensive laboratory investigations rule out metabolic disorders that can be associated with optic atrophy. No mutations associated with Leber hereditary optic neuropathy (LHON) were found and sequencing of the mitochondrially encoded complex 1 subunits was normal. We suggest that this family represents either an atypical variant of LHON with a yet undescribed mtDNA mutation or a new syndrome.

Adolescent↗
PubMed2003

Clinical experience with open-label topiramate use in infants younger than 2 years of age.

To assess the efficacy, safety, and tolerability of topiramate in infants younger than 24 months of age, we conducted an open-label, multicenter chart review study of infants who received topiramate. Twenty-eight patients were evaluated. All had refractory epilepsy. The mean age of seizure onset was 3.8 months (range 0-10 months). Refractory infantile spasms were the most common epilepsy syndrome. Among infants without infantile spasms, complex partial seizures were the prominent seizure type in eight, followed by simple partial seizures in six. Topiramate was prescribed as add-on therapy in 25 cases and a s monotherapy in 3 cases. Seven of the eight infantile spasms cases improved on topiramate therapy, attaining topiramate monotherapy in three infants. Half of the infants with other seizure types responded to topiramate. The average treatment duration among topiramate responders was 11 months. Topiramate was prescribed after a mean of 3.3 antiepilepsy drugs had been used in these infants. In no case was topiramate the first prescribed antiepilepsy drug. Adverse effects occurred only in five patients, leading to topiramate discontinuation in two patients. Topiramate was efficacious and well tolerated in infants younger than 24 months of age with refractory epilepsy. Prospective data are needed to corroborate this observation.

Age Factors↗
PubMed2003

Oligohydrosis and hyperthermia: pilot study of a novel topiramate adverse effect.

A 6-year-old boy with partial complex seizures developed recurrent episodes of hyperthermia 2 months after topiramate was introduced into his antiepilepsy drug regimen. Further investigation revealed that the febrile episodes were related to environmental temperature and physical activity. A pilocarpine iontophoresis sweat test showed that the amount of sweat produced by the child was 5% that of age-matched controls. Topiramate discontinuation resulted in the disappearance of febrile episodes and normalization of sweat quantity in repeat sweat testing. Based on this observation and the previous data on zonisamide and isolated case reports on topiramate-related hyperthermia and the effect on sweat production, topiramate was suspected of causing oligohydrosis. A pilot study was carried out involving 13 additional children and young adults (age range 1-37 years) receiving topiramate. All patients were directly questioned regarding symptoms of decreased sweating and heat intolerance, went through a pilocarpine iontophoresis sweat test, and were compared with 14 age-matched controls who went through the sweat test for unrelated reasons. Nine of the patients were found to have reduced sweat quantity on the pilocarpine iontophoresis sweat test (including index case) (mean 0.089 g/30 minutes, SD 0.082; age-matched control: mean 0.21 g/30 minutes, SD 0.06). Eight of them were children (below 16 years). However, only three patients revealed symptoms related to heat intolerance. Topiramate is most likely responsible for decreased sweat production as detected by a pilocarpine iontophoresis sweat test. The effect seems to be more significant in children than in adults. There is a discrepancy between test results and clinical symptoms. Interestingly, oligohydrosis was found to be a relatively common side effect of zonisamide. Both zonisamide and topiramate share a carbonic anhydrase inhibitor activity. The significance of oligohydrosis in hot climates should not be underestimated. Its extent, the role of sweat test prediction, and clinical significance during topiramate treatment should be further estimated.

Adolescent↗
PubMed2003

Clinical correlates of frontal intermittent rhythmic delta activity in children.

Frontal intermittent rhythmic delta activity is an electrographic pattern of unclear origin. Previously thought to correlate with deep midline and infratentorial pathology, rather, it appears to be associated with encephalopathy states in adults. The significance of frontal intermittent rhythmic delta activity in children has not been studied. We analyzed the electrographic characteristics and clinical associations of pediatric frontal intermittent rhythmic delta activity. This pattern was rarely detected, occurring in 20 of 1500 electroencephalographic (EEG) studies. Patients' ages ranged between 1.5 and 17 years. Most patients were awake and showed no signs of acute encephalopathy when frontal intermittent rhythmic delta activity occurred. Half of the children were cognitively impaired, and half had a history of epilepsy. Epileptiform activity was present in 55% of the EEG recordings. However, frontal intermittent rhythmic delta activity was part of the epileptiform discharge in only a minority of cases. The duration of frontal intermittent rhythmic delta activity bursts was longer in the mentally retarded group. Most patients did not have structural brain pathology. None had deep midline or infratentorial lesions. In conclusion, frontal intermittent rhythmic delta activity is rare in children, is not associated with acute encephalopathy or with deep midline or infratentorial lesions, and tends to occur during wakefulness. The electrographic characteristics of frontal intermittent rhythmic delta activity appear to differ between cognitively normal and mentally retarded children.

Adolescent↗
PubMed2003

Muscle glycogen depletion and increased oxidative phosphorylation following status epilepticus.

We describe complete glycogen depletion and increased respiratory chain enzyme activity in a muscle biopsy obtained prior to the demise of a patient in multiorgan failure following status epilepticus. These findings validate the theoretical basis of muscle energy turnover during status epilepticus: the increased demand for energy leads to complete depletion of glycogen reserves. The attempt to preserve adenosine triphosphate requirements results in increased activity of respiratory chain enzymes.

Biopsy↗
PubMed2003

Fetal cytomegalovirus infection of the brain: the spectrum of sonographic findings.

BACKGROUND AND PURPOSE: Congenital cytomegalovirus (CMV) infection can cause a wide range of brain anomalies. These changes have been well described postnatally, but descriptions of their in utero evolution are scarce. The purpose of this study was to analyze the sonographic spectrum of intracranial abnormalities in fetuses with proved CMV infection and to determine characteristic patterns of this infection. METHODS: We reviewed the transabdominal and transvaginal sonograms of eight fetuses with proved CMV infection. The sonographic analysis searched for signs of ventriculitis, leukomalacia, calcification, vasculitis, and periventricular cyst formation. The gyral pattern, corpus callosum, and cerebellar morphology also were examined. Fetal MR imaging was performed in two cases. RESULTS: The sonographic diagnosis of suspected CMV infection was made at a mean gestational age of 27.5 weeks (range, 22-37 weeks). An abnormal pattern of periventricular echogenicity was found in all fetuses. Echogenic intraparenchymal foci and ventriculomegaly were present in five fetuses. Other signs of fetal infection were intraventricular adhesions, periventricular pseudocysts, sulcation and gyral abnormal patterns, hypoplastic corpus callosum, cerebellar and cisterna magna abnormalities, and signs of striatal artery vasculopathy. For all fetuses, transvaginal sonography provided additional information. Fetal MR imaging provided additional information in one case. CONCLUSION: The presence of the described sonographic findings, particularly if two or more are present in the same fetus, is an indication for CMV investigation.

Brain↗
PubMed2003

Decreased bone density in carriers and patients of an Israeli family with the osteoporosis-pseudoglioma syndrome.

BACKGROUND: The osteoporosis-pseudoglioma syndrome is a rare autosomal recessive disorder characterized by severe juvenile-onset osteoporosis and congenital or early-onset blindness. Other manifestations include muscular hypotonia, ligamentous laxity, mild mental retardation and seizures. The gene responsible was recently identified to be the low density lipoprotein receptor-related family member LRP5 on chromosome 11q11-12. OBJECTIVE: To measure bone density in two siblings with the OPPG syndrome as well as in their family members (parents and siblings). METHODS: Bone mineral density was determined in the lumbar spine (antero-posterior), femoral neck, two-thirds distal forearm (> 95% cortical bone) and ultradistal forearm (predominantly trabecular bone) by dual-energy X-ray absorptiometry. RESULTS: The studies revealed osteoporotic changes both in the patients and the carriers. CONCLUSION: The findings demonstrate that OPPG carriers have reduced bone mass, which is a risk factor for development of early osteoporotic changes.

Abnormalities, Multiple↗
PubMed2002

Clinical and radiologic correlates of frontal intermittent rhythmic delta activity.

To assess the clinical and radiologic correlates of frontal intermittent rhythmic delta activity (FIRDA), the authors reviewed the hospital charts of patients whose EEGs depicted this EEG finding, and recorded their past medical and neurologic history, the reason for hospital admission, and their neurologic status both on admission and during EEG recordings. Laboratory results on admission and concomitant to the EEG recording, computed tomography, or MRI findings during hospital admission were also reviewed. Sixty-eight patients were assessed. The gender ratio was 1:1; mean age was 56 years. Chronic disease occurred in 78% of patients, including hypertension (34%), diabetes (32%), and renal failure (18%). On admission, renal failure (n = 34) and hyperglycemia (n = 22) were most prominent. The majority of patients had at least one abnormal laboratory result. Thirty-eight of 51 patients in whom the level of consciousness was stated during EEG were described as awake. More than half of 58 patients whose EEG background activity was stipulated demonstrated diffuse slowing, mostly in the theta range. MRI was abnormal in 15 of 17 patients. Intrahemispheric lesions, particularly ischemic and hemorrhagic, were most common (n = 10), followed by basal ganglia lacunae (n = 4). Computed tomography was abnormal in 29 of 44 patients. Hemispheric pathology, diffuse or localized, occurred in 22 patients. Frontal intermittent rhythmic delta activity is associated with mild to moderate encephalopathy and is detected principally in awake patients. Most patients in this series had chronic systemic illness. Old ischemic structural brain lesions may predispose some patients to develop FIRDA during acute metabolic derangement, such as uremia and hyperglycemia. Frontal intermittent rhythmic delta activity was not associated with EEG epileptiform activity. Deep midline lesions, posterior fossa tumors, and hydrocephalus were not detected in this series of patients with FIRDA.

Adolescent↗
PubMed2002

Significance of microcephaly among children with developmental disabilities.

To assess the clinical impact of microcephaly among children with developmental disabilities, we reviewed the charts of 1393 consecutive patients from birth to 5 years of age referred to our child development center. Comparisons were made between normal and low IQ microcephalic patients and between children with cerebral palsy with and without small head circumference. Microcephaly was detected in 15.4% of patients. Although mental retardation was more common among microcephalic children (P < .001), almost half had normal intelligence. Prematurity (P < .001), perinatal asphyxia (P < .001), small for gestational age (P < .001), respiratory distress syndrome (P < .001), and brain hemorrhage (P < .001) were associated with microcephaly. Hypotonia (P < .001) and spasticity (P < .001) were the most common neurologic findings. Cerebral palsy (P < .001), growth retardation (P < .001), epilepsy (P < .001), and strabismus (P < .001) were the main associated diagnoses found. Mental retardation was significantly more common among microcephalic patients with cerebral palsy than among normocephalic ones (P < .0004). Microcephaly is common among children evaluated for developmental disabilities. Many of these patients have normal or borderline IQ. Of several perinatal conditions associated with later microcephaly, respiratory distress syndrome and intraventricular hemorrhage show the strongest correlation. Mental retardation is not a risk factor for other neurologic complications in microcephalic children. However, in children with cerebral palsy, microcephaly is a risk factor for mental retardation.

Asphyxia Neonatorum↗
PubMed2002

Carbamazepine versus sulthiame in treating benign childhood epilepsy with centrotemporal spikes.

We compared the therapeutic efficacy of carbamazepine versus sulthiame in patients with benign childhood epilepsy with centrotemporal spikes. Drug efficacy was evaluated only in those patients who initiated treatment with any drug after at least three seizures. Thirty-eight patients who received carbamazepine and 18 patients who received sulthiame were included in the analysis. Cessation of seizures was observed in 73.6% of the former and in 66.7% of the latter (P = not significant). Five of eight patients who were switched to sulthiame after failing carbamazepine became seizure free, whereas none of the three patients who failed sulthiame became seizure free after being switched to carbamazepine. The rate of drug discontinuation owing to adverse reaction was 15% in carbamazepine and 14.3% in sulthiame. Normalization of interictal epileptiform activity on electroencephalography was seen more often following treatment with sulthiame (71%) than with carbamazepine (42%) (P = not significant). No significant differences between these two medications were found in the treatment of benign childhood epilepsy with centrotemporal spikes in this small patient sample.

Anticonvulsants↗