Isabelle Korn-Lubetzki

Spinal Cord Involvement in Uncomplicated Herpes Zoster

ABSTRACT We prospectively evaluated herpes zoster patients during the acute phase of the disease for central nervous system involvement. Of 24 patients with spinal zoster, 13 (54%) had spinal cord abnormality, which was asymptomatic in 12 of the 13. Age but not lack of acyclovir treatment was associated with such involvement. In all but 2, neurological involvement resolved within 6 months. Although the mechanism responsible for the neurological abnormalities is unknown, findings may support the hypothesis that zoster is associated with spread of viral infection into the spinal cord and therefore support the possibility that zoster is due to active viral replication in the ganglion.

NONCONVULSIVE STATUS EPILEPTICUS IN OLDER PEOPLE: A DIAGNOSTIC CHALLENGE AND A TREATABLE CONDITION

To the Editor: Lacking the typical phenotypic features of seizures and the adverse systemic consequences of prolonged convulsions, nonconvulsive status epilepticus (NCSE) was incorrectly assumed not to cause neuronal injury. Unfortunately, NCSE is associated with morbidity and mortality due to neuronal damage from abnormal electrical activity and its association with the acute neurological disorders that may precipitate it. This becomes more apparent in the geriatric population, in which impaired baseline mental status hampers diagnosis even further, and the brain parenchyma is more sensitive to prolonged abnormal electrical activity. To determine the prevalence, clinical features, and course of NCSE in the elderly population, an observational prospective study was conducted of all consecutive patients with acute unexplained change in mental,cognitive, or behavioral status or confusion that was the cause of hospitalization or had occurred during hospitalization in the Department of Geriatrics, Shaare Zedek Medical Center, over a 24-month period. Typical electroencephalogram (EEG) changes were required to establish the diagnosis of NCSE. Clinical improvement was defined as resumption of the previous (baseline) mental status and disappearance of epileptic activity on EEG. Within a 2-year period seven of 307 hospitalized patients, aged 73 and older, were diagnosed with NCSE (Table 1). Of the seven patients (4 women and 3 men, aged 73–90, mean age 82.7), only one had a previous history of epilepsy; three had renal insufficiency. All patients presented with acute altered mental state: confusion, stupor or coma, without concomitant clinical convulsive activity. In three patients, the presenting symptom was refusal to eat. Time until diagnosis ranged from 1 to 5 days (mean 3 days). All seven patients had generalized NCSE on EEG that disappeared with intravenous diazepam injection (5–8 mg) in the five patients to whom it was given and in all patients on follow-up. None of the patients had focal status epilepticus on EEG. Patients were treated with an intravenous loading dose of phenytoin (800–1,000 mg) or valproic acid (20 mg/kg) followed by a maintenance dose. In six patients, clinical improvement was achieved within 1 to 4 days (mean 2.2 days). None of the medications that the patients were taking are known to cause seizures. In the patients with renal failure, the clinical and encephalographic improvement was chronologically related to the antiepileptic treatment and not to renal function improvement. One patient died of sepsis 19 days after the diagnosis of NCSE. All other six patients were discharged from the hospital after they regained their previous mental and neurological status.

Muscular carnitine palmitoyltransferase II deficiency in infancy

An 8-month-old female presented with febrile myoglobinuria. The activity of carnitine palmitoyltransferase (CPT) II was decreased to 16% of the control mean, and the oxidation of the long-chain fatty acids was reduced to 25% of the mean in the fibroblasts. Homozygosity for the common mutation, S113L, was identified in the CPT II gene. Residual CPT II activity of more than 10% of the mean and homozygosity for the common mutation S113L are usually associated with a milder reduction of long-chain fatty acid oxidation to about 80% of the control and with a later age of clinical onset. The early clinical presentation in the present patient is unique and was associated with a marked impairment of long-chain fatty acid oxidation, possibly because of other genetic factors. CPT II deficiency should be included in the differential diagnosis of isolated myoglobinuria in infancy.

Correlation between serum lipids and stroke in an Israeli population

The role of blood lipids as a risk factor for cerebrovascular disease remains uncertain. In the present prospective study, 202 patients admitted with stroke to a community hospital in Jerusalem were evaluated. All patients had a full clinical and neurological evaluation, and a risk factor analysis. The study protocol included routine blood evaluation, fasting blood lipid analysis, brain imaging, 2D echocardiography and carotid Doppler ultrasonography. Stroke risk factors were correlated to stroke types as defined by the modified NINCDS Stroke Data Bank Criteria. Lacunar and atherosclerotic ischaemic infarctions were the most frequent type of stroke in both sexes. Lipid values were in general lower in males than in females. Comparison of stroke patients to age and sex matched controls disclosed lower LDL-C values in male and female patients (p less than 0.001), and lower cholesterol levels in women with strokes than in control subjects (p less than 0.001). Our study corroborates previously reported risk factors for stroke: hypertension (major risk factor in both sexes), smoking (more prevalent in males) and diabetes (more frequent in females).

Complete mitochondrial DNA sequence analysis in a family with early-onset dystonia and optic atrophy

The combination of optic atrophy and dystonia has been etiologically associated with mitochondrial DNA (mtDNA) mutations. We report here on the complete mtDNA sequence from the proband of a consanguineous family exhibiting “mitochondrial‐like” optic atrophy and dystonia. A candidate tRNAGly mutation was identified that was unique to the family. However, the mutation was homoplasmic in both affected and unaffected family members and we were unable to demonstrate a biochemical defect in patient mitochondria. Hence, it is unlikely that a mtDNA mutation accounts for the phenotype in this family.

Mutation in the Methylenetetrahydrofolate Reductase Gene Might Be a Risk Factor for Cerebrovascular Disease in Peripartum and Under Oral Contraceptive Use

Nine women (age 22–43 years) with cerebrovascular diseases (CVD) related to pregnancy, puerperium or contraceptive use were studied. Five were pregnant, 2 were post partum and 2 were taking oral contraceptives. All under- went a complete etiological examination including assessment for the thermolabile C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene mutation. Three of the 9 patients were homozygotic for the C677T MTHFR mutation, and 3 were heterozygotic. In these 6 patients, no other etiology could be found. Mutation in the thermolabile MTHFR gene might be an important cause for CVD related to peripartum or contraceptive use.

The Relatively Good Outcome of Cerebellum-Brainstem Ischemic Strokes

Background: Our clinical experience suggests that the outcome of cerebellum-brainstem ischemic strokes is better than that of hemispheric ischemic strokes. Methods: Within the setting of 2 national Israeli prospective stroke surveys, we analyzed risk factors, etiology, severity at presentation, and prognosis of first ischemic cerebellum-brainstem stroke (259 patients), comparing with strokes within the anterior circulation (1,029 patients). Results: Patients with cerebellum-brainstem strokes were younger and had less frequently atrial fibrillation and congestive heart failure. Cardioembolic etiology was significantly less prevalent (p < 0.001). Severity at presentation was milder (p < 0.001). At discharge, worsening of the modified Rankin Scale was present in a smaller number of patients (p < 0.001); more returned to their home (p < 0.001). Six-month and 1-year mortality were lower (p < 0.001 for both). Adjusted logistic regression models showed that patients with cerebellum-brainstem strokes had 50% smaller chances of dying (OR 0.55; 95% CI 0.31–0.98) and a smaller chance of worsening of the modified Rankin Scale at discharge (OR 0.61; 95% CI 0.46–0.82). Conclusions: Cerebellum-brainstem strokes are less frequently cardioembolic, have a less severe presentation, and carry a better immediate and long-term prognosis.

The possible risk for strokes complicating cardiac surgery in patients with intraoperative hypothermia.

Background: The effect of hypothermia as a possible neuroprotective tool on the outcome of cardiac surgery is still controversial. Methods: We retrospectively assessed all patients who underwent cardiac surgery within a 14-year period and compared patients with and without postoperative stroke. Results: Stroke occurred more frequently in patients who underwent valve repair/replacement combined with coronary artery bypass grafting (CABG) than in patients who had CABG alone (p = 0.0002). All strokes (1.4%) were ischemic and mostly of large-vessel etiology. All patients with stroke had intraoperative minimal temperature <34°C. More patients in this group than in the group without stroke had an intraoperative minimal temperature <30°C (p = 0.01). Stepwise multivariate analysis of all pre- and intraoperative parameters identified significant risk factors for stroke: hypertension, diabetes mellitus and previous stroke as preoperative risk factors, but only lower minimal temperature as a significant intraoperative risk factor (p = 0.03; odds ratio 1.080/1°C, 95% confidence interval 1.004–1.152). The mean intraoperative temperature was 28 ± 4°C in patients who developed stroke and 30 ± 3°C in patients without stroke. Conclusions: Intraoperative hypothermia around 28°C might be harmful and associated with increased risk for postsurgical stroke.

Progressive dystonia with optic atrophy in a Jewish–Iraqi family

The combination of progressive dystonia and optic atrophy is extremely rare and its morphological, metabolic and genetic basis is unknown. In a family of 9 children (8 males) born to consanguineous Israeli-Jewish-Iraqi parents, we identified four brothers who developed the syndrome at the end of the first decade. Patients had hemi or bilateral dystonia associated with striatal, mainly putaminal, atrophy on CT and MRI, various degrees of optic atrophy, minimal corticospinal tract involvement, normal intelligence and no peripheral nervous system or systemic abnormalities. No causative metabolic defect was identified. None of the several known mitochondrial DNA mutations associated with Lebers hereditary optic neuropathy (LHON) or with LHON with dystonia were detected. Likewise, linkage to the idiopathic torsion dystonia region on chromosome 9q34 was excluded. It is suggested that this in our patients might be due to a yet unidentified genomic, autosomal recessive mutation.

Rasmussen encephalitis and comorbid autoimmune diseases: A window into disease mechanism?Author Response

Amrom et al.1 reported 4 patients with Rasmussen encephalitis (RE) who were subsequently diagnosed with comorbid autoimmune conditions (ulcerative colitis and Crohn disease in 2). This association raises the possibility of immunogenetic susceptibility in these patients.1 We reported a very unusual presentation of RE in a young girl.2 Diagnosis was difficult because the presenting symptom was hemiparesis while the seizures developed …