Alzira Alves De Siqueira Carvalho

Prevalence of presenile dementia in a tertiary outpatient clinic

There are very few reports about prevalence of presenile dementia in Brazil. We reviewed files of patients evaluated with early onset of cognitive impairment in our institution. Among 141 patients (61% males) there was no difference between gender by age at onset or at first evaluation. We have observed an increasing number of patients after 50 years. The most frequent causes were: vascular dementia (36.9%), Alzheimers disease (20.3%) and traumatic brain injury (9.2%). There was difference among dementia type by age of onset and first evaluation, educational level and length of dementia. These results may be compared with those from other neurologic services in order to replicate or confirm these results.

Epidemiologic features of Guillain-Barré syndrome in São Paulo, Brazil

INTRODUCTION There are few epidemiologic studies concerning Guillain-Barré syndrome (GBS). Due to difficulties with definition and lack of a standard diagnostic test of reference, GBS is not easy to study epidemiologically. We evaluate some epidemiological features of GBS in a sample of cases treated at a tertiary hospital in São Paulo, Brazil. METHOD We retrospectively reviewed all cases of GBS with hospitalization in Santa Marcelina hospital, over the period of January 1995 through December 2002. RESULTS Ninety-five cases were included in this study. Fifty-five were men and forty women, with a proportion of 1.4 men to 1 woman. The age ranged from 1 to 83 years with a mean age at onset of 34 years. GBS was less frequently observed below 15 years (18.9%) and above 60 years (16.9%). The highest frequency was observed in patients aged 15 to 60 years old (66.2%). The annual incidence rate was 0.6 cases/100,000 people. There was a highest frequency of cases during the months of September through March (62.1%). CONCLUSION Our data differs from that of other epidemiological studies in that we did not observe a bimodal distribution in age and found a seasonal pattern in hotter months.

STATIN AND FIBRATE ASSOCIATED MYOPATHY Study of eight patients

Lipid-lowering drugs have been occasionally associated with neuromuscular symptoms and muscle biopsy changes. We reported the clinical course and the muscle biopsy in eight patients with hyperlipoproteinemia, treated with lipid -lowering drugs (statins/fibrates). Five patients had myalgias while; in two cases there was proximal muscle weakness. All patients became asymptomatic after the withdrawal of the drug, although creatine kinase remained elevated. We performed muscle biopsy in six cases from three months to two years after suspension of the drug. We found variation in fibers diameters in all cases, with necrosis of fibers in five cases, inflammatory infiltration in one case, the presence of vacuolated fiber in one patient and ragged-red fibers in three subjects. We concluded that although the muscle biopsy findings were not specific, the prolonged use of statins and or fibrates might induce a chronic myopathy even in the absence of symptoms.

Primary hyperparathyroidism simulating motor neuron disease: case report

We report a case of a 26-year-old man who presented a lower motor neuron syndrome due to hyperparathyroidism. Electromyography showed neurogenic features with normal nerve conduction studies. Hypercalcemia led to the discovery of a primary hyperparathyroidism with gland hyperplasia. Following parathyroid surgery there was recovery of the neurological symptoms.

Emery-Dreifuss muscular dystrophy: anatomical-clinical correlation (case report)

We report on a man that had weakness of humeroperoneal distribution associated with limited range of motion of the cervical spine and elbows since he was 5 years old. At age 26 he developed tachycardia episodes. A complex arrhythmia was discovered, and a nodal ablation was done with a cardiac pacemaker implanted. The patient had an arrhythmia and sudden death followed this. Emery-Dreifuss muscular dystrophy is a rare recessive X-linked muscular disorder where mixed patterns in electromyography and muscle histology (neurogenic and/or myopathic) have caused nosological confusion. The autopsy findings are here described and correlated to the clinical features in an attempt to better understand the ambiguous findings concerning the process etiology.

Síndrome de Miller Fisher e neurite óptica: relato de caso

We report a case of Miller Fisher syndrome and bilateral demyelinating optic neuropathy suggesting the possible involvement of central nervous system in this syndrome. The optic neuritis was confirmed by visual evoked potential.

Kearns-Sayre syndrome "plus": classical clinical findings and dystonia

We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS) characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, pigmentous retinitis, associated to short stature, cerebellar signs, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia. The skeletal muscle biopsy demonstrated ragged red fibers, cytochrome C oxidase-negative and succinate dehydrogenase-positive fibers. The magnetic resonance imaging showed symmetrical signal alteration in tegmentum of brain stem, pallidum and thalamus. Mitochondrial DNA analysis from skeletal muscle showed a deletion in heteroplasmic condition. The association of dystonia to KSS, confirmed by molecular analysis, is first described in this case, and the importance of oxidative phosphorylation defects in the physiopathogenesis of this type of movement disorder is stressed.

Acute intermittent porphyria after gastroplasty.

A 28-year-old female underwent gastroplasty for obesity in an uneventful procedure. This was followed within five days by persistent abdominal pain associated with weakness that progressed to generalized flaccid quadriparesis. She developed respiratory distress, and required intubation. Cerebrospinal fluid (CSF) revealed a normal cell count and elevated total protein. Her folate and vitamin B12 levels were normal. Electromyography (EMG) and nerve-conduction studies (NCS) showed acute generalized motor-sensory demyelinating neuropathy predominantly in the lower limbs. A diagnosis of Guillain-Barré syndrome was made, and a five-day course of immunoglobulin was begun, which did not produce any improvement. Three months later, she still had not improved and she came into our service looking for a diagnosis. The patient reported that seven relatives had lower limb weakness, and that five of them died due to respiratory failure after the onset of neurological manifestations. Neurological examination showed moderate quadriparesis, with proximal weakness greater than distal weakness. Muscle reflexes were absent, and no pathological reflexes were demonstrated. The patient’s sense of feeling was normal. The blood tests were normal. We repeated the EMG and NCS, which showed pure motor axonal polyradiculoneuropathy. The porphobilinogen (PBG) and δ-aminolevulinic acid (ALA) levels in urine were high: 32.4 mg/24h (normal range: 0-2 mg/24h) and 26.2 mg/g, (normal value: 4.5 mg/g) respectively, thus indicating the diagnosis of acute intermittent porphyria. Six months later, the patient returned complaining of a burning feeling in her lower abdomen and upper limbs. Two days after this, she became weak again and developed quadriparesis. She was then treated with intravenous glucose (300 g per day), with a slight improvement. Hematin was not used because it was not available at our service. Because the patient’s condition continued to worsen, we decided to reverse the gastric bypass, given that this could decrease the risk of further attacks. Within a couple days, she got better and her muscle strength gradually improved.

Doença de Lafora: diagnóstico pela biopsia de músculo esquelético (relato de caso)

A 16-year-old female patient had myoclonic epilepsy caused by Laforas disease. Muscle biopsy showed a prominent splitting pattern in muscle fibers with the nicotinamide adenine nucleotide dehydrogenase-tetrazolium reductase reaction, hematoxylin-eosin, and PAS stains. This morphologic appearance of the tissue permits diagnosis using the benign technique of muscle biopsy. The ultrastructural examination of muscle may be necessary to confirm the diagnosis of Lafora myoclonus epilepsy if light microscopical findings are equivocal.