Mario Wilson Iervolino Brotto

Diagnóstico da esquistossomose medular: contribuiçäo da ressonância magnética e eletroneuromiografia

OBJECTIVE To analyze the usefulness of magnetic resonance imaging MRI and electroneuromyography (ENMG) in the diagnosis of schistosomiasis of the spinal cord (SSC). METHOD 18 MRI of the thoracolumbar spine and 24 ENMG of the upper and lower limbs were carried out on patients with a definite diagnosis of SSC in the clinical forms of myeloradiculitis or thoracic transverse myelitis. RESULTS Of the 18 MRI carried out, 16 (88.8%) showed abnormalities on T1 and T2 weighted images and heterogenous pattern of enhancement with contrast material injection. Of the 24 ENMG, 23 (95.8%) showed a feature of bilateral multiradiculopathy of roots L2, L3, L4, L5, S1, S2, asymmetric in 10 cases (41.6%), characterized by signs of denervation in the lumbar paraspinal musculature and long duration polyphasic potentials in increased proportion, as well decrease of the recruitment of motor units. CONCLUSION In spite of the non-specificity of both exams, the MRI and the ENMG showed to be useful for the diagnosis of SSC, by revealing abnormalities that repeated in 88.8% and 95.8% of the cases, respectively.

Hyperekplexia, a cause of neonatal apnea: a case report

We report a case of non-familial hyperekplexia which characteristically developed apnea and feeding difficulties in the neonatal period. The abnormal startle response was evident from the second week of life onwards. The infant showed a marked improvement of the startle response and muscle hypertonia with clonazepam. Clobazam was also tried with no apparent response. A prominent long latency C response was observed on EMG examination, suggesting a possible cortical neuronal hyperexcitability origin for the abnormal startle response observed in hyperekplexia.

A case of primary spinal myoclonus: clinical presentation and possible mechanisms involved

Spinal myoclonus is a rare movement disorder characterized by myoclonic involvement of a group of muscles supplied by a few contiguous segments of the spinal cord. Structural lesions are usually the cause, but in primary spinal myoclonus the etiology remains unknown. We present the case of a 26-year-old woman with cervical spinal myoclonus in which both clinical and electromyographic findings pointed to the segment C1-C3 as the origin of the myoclonus. Laboratorial examinations were normal and no structural lesion was found in magnetic resonance imaging (MRI). Botulinum toxin type A was injected in infrahyoid muscles and cervical paraspinal musculature. The patient remained free of symptoms for almost five months. The pathophysiology of spinal myoclonus remains speculative, but there is evidence that various possible mechanisms can be involved: loss of inhibitory function of local dorsal horn interneurons, abnormal hyperactivity of local anterior horn neurons, aberrant local axons re-excitations and loss of inhibition from suprasegmentar descending pathways.

Cerebrotendinous xanthomatosis: clinical and laboratory study of 2 cases

ABSTRACT‐ Cerebrotendinous xanthomatosis is an unusual disease, clinically characterized by dementia, cataracts, progressive cerebellar ataxia, pyramidal signs, and multiple xanthomas of tendons and other tissues. It was first described in 1937, and in 1968 the storage of cholesterol and cholestanol in the tissues was demonstrated. About 30 cases have been reported. The authors of the present communication report 2 cases in siblings with parental consanguinity. They showed mental impairment and cataract, and multiple xanthomas; in 1 case, pyramidal signs were detected in the 4 limbs associated with a rise of the vibration‐sense thresholds in the feet. The diagnosis was confirmed in both cases by greatly increased cholestanol levels in the blood serum, bile and in a tendon xanthoma. Cholesterol concentrations in the blood serum and bile were normal although increased in the xanthoma. One case had a gallstone. Computerized tomography showed hyperdense nodules in the cerebellar hemispheres of one patient, and a calcified parietal nodule in his sister. The etiopathogenesis of the disease is discussed. Treatment with ursodeoxycholic acid is in course in both patients.

Autosomal dominant HMSN with proximal involvement: new Brazilian cases

We report four Brazilian siblings with Autosomal Dominant Hereditary Motor Sensory Neuropathy with Proximal Dominant Involvement (HMSN-P), a rare form of HMSN, that was characterized by proximal dominant muscle weakness and atrophy onset after the age of 30 years, fasciculation, arreflexia and sensory disturbances with autosomal dominant inheritance. Electrophysiological study and sural nerve biopsy were in the accordance with axonal sensory motor polyneuropathy and laboratorial analysis disclosed serum lipids and muscle enzymes abnormalities. Our report is the first done by a group outside Japan, where the disease initially seemed to be restricted and stressed the phenotypic variability from the original report.

Multiple endocrine neoplasia type 1 presenting as refractory epilepsy and polyneuropathy — A case report

Hypoglycemia is a well recognized cause of acute symptomatic seizures. The fact that hypoglycemia can cause peripheral neuropathy is less appreciated. We describe a case of insulinoma associated peripheral neuropathy. A 17 year-old previously healthy man was referred for investigation of refractory epilepsy. A history of recurrent seizures, slowly progressive weakness of his feet and hands, and weight gain was obtained. Physical examination showed signs of a chronic sensory-motor polyneuropathy. He was diagnosed with insulinoma and primary hyperparathyroidism, characterizing multiple endocrine neoplasia, type 1 syndrome. Cases of insulinoma associated peripheral neuropathy are very rare. The more characteristic clinical picture appears to be distal weakness, worse in the intrinsic hand and feet muscles, and no or mild sensory signs. Peripheral nervous system symptoms may not completely resolve, despite removal of the cause of hyperinsulinism/hypoglycemia and full reversion of central nervous system symptoms. Mechanisms underlying hypoglycemic neuropathy are still poorly understood.

Sindrome de irritabilidade muscular aumentada: tratamento com nifedipina. Registro de um caso

In 1980 Alberca et al. described a patient with a syndrome of increased muscle irritability, who presented ondulating muscle rolling movements and electrically silent cramps, myoedema and muscle reactions to mechanical stimulation similar to myotonic response, suggesting a disfunction at myofibrillar level. We saw a similar case, of a male patient, 21 years of age, who complained of cramps of severe intensity for the past four years. These cramps were painful in the upper and lower limbs and impaired his locomotion; they were electrically silent. At percussion the patient showed severe idiomuscular contraction, with a period of increased relaxation, similar to a myotonic reaction and also, prolonged myoedema and rolling muscle contractions. Electromyography was normal, as were histochemical and electron microscopy studies. We carried out a therapeutic trial with niphedipine (a calcium antagonist), on the assumption that the patient showed a disturbance of the myofibrillar function--even though physiopathogenesis of the hyperirritability muscle syndrome was not yet clearly defined--and with a basis on the importance of the intracytoplasmatic level of Ca++ free in the muscle contraction mechanism, not only as the initiating factor of the contractile process, but also as a quantitative controller of the mechanic tension development through regulation of the amount of ATP metabolized during muscle activity. Administration of the drug in a dose of 40 mg daily, per os, brought a remission of the symptoms after two weeks, and the patient could walk normally again. On the introduction of a placebo, on two different opportunities, there occurred a recrudescence of the symptoms after about one weeks time.(ABSTRACT TRUNCATED AT 250 WORDS)Em 1975 Torbergsen 1 3 descreveu, em 5 pacientes de uma familia, uma doenca hereditaria dominante caracterizada por caimbras, contracoes musculares clinicamente semelhantes a miotonia, mioedema, contracoes musculares ondulantes desencadeadas por estimulos mecânicos e hipertrofia muscular. Exceto pela enzina creatinofosfoquinase (CPK) discretamente elevada, todos os exames complementares realizados foram normais, incluindo biopsia muscular e eletromiografia (EMG). Esta mostrou silencio eletrico durante as contracoes musculares involuntarias. Em 1980, Alberca et col.1 descreveram um paciente que apresentava caimbras em membros inferiores ao iniciar exercicios, respostas musculares a estimulacao mecânica semelhantes a miotonia, mioedema e movimentos ondulantes dos musculos, alem de sindrome cerebelar por atrofia de cerebelo, provavelmente nao relacionada com os demais sintomas descritos. Alem da CPK discretamente elevada, nenhuma outra alteracao laboratorial foi observada, mesmo nos estudos histoquimicos, de microscopia eletronica, e de EMG, que mostrou silencio eletrico durante as contracoes musculares involuntarias. Os autores consideraram o caso semelhante ao descrito por Torbergsen, com aparente apresentacao esporadica e com manifestacoes cerebelares associadas.

A novel stop codon mutation in the PMP22 gene associated with a variable phenotype

The most frequent inherited peripheral neuropathy is the peripheral myelin protein 22 (PMP22) gene related disease. Duplication, deletion, and point mutations in that gene are associated with phenotypic variability. Here we report a family carrying a novel mutation in the PMP22 gene (c. 327C>A), which results in a premature stop codon (Cys109stop). The family members who carry this mutation have a Charcot-Marie-Tooth type 1 variable phenotype, ranging from asymptomatic to severely affected. These findings suggest that the fourth transmembrane domain of the PMP22 gene may play an important role, although the intrafamilial clinical variability reinforces the observation that pathogenic mutations are not always phenotype determinant and that other factors (genetic or epigenetic) modulate the severity of the clinical course.

Distrofia muscular progressiva congênita tipo Fukuyama descrição de um caso

Os autores relatam o primeiro caso de distrofia muscular progressiva congenita tipo Fukuyama descrito no Brasil, comprovado pelos achados clinicos e exames complementares. E dada enfase a presenca de retracoes fibrotendinosas precoces e envolvimento do sistema nervoso central, o que constitui a caracteristica fundamental da afeccao. A molestia e muito frequente no Japao e pouco descrita em outros paises. A etiopatogenia ainda nao esta definida.The authors report the first Fukuyama type congenital progressive muscular dystrophy case described in Brazil, and confirmed through clinical findings and complementary tests. Emphasis is given to the presence of early fibrotendinous retractions and impairment of the central nervous system, which constitute the fundamental characteristics of this affection. This disease is very common in Japan but very seldom described in other countries. Its etiopathogeny has not yet been defined.

Pregabalin for the Prevention of Oxaliplatin‐Induced Painful Neuropathy: A Randomized, Double‐Blind Trial

Abstract Lessons Learned. Pregabalin is a medication that can decrease neuronal hyperexcitability, relieve neuropathic pain, and reach stable plasma levels after a titration period of only a few days. Its use during oxaliplatin infusions was not able to decrease the incidence of chronic, oxalipaltin‐related neuropathic pain, compared with placebo. Background. Patients with colorectal cancer (CRC) receiving oxaliplatin (OXA) develop acute and chronic painful oxaliplatin‐induced peripheral neuropathy (OXAIPN). Acute and chronic OXA‐related neuropathies have different pathophysiological bases, but both lead to a common phenomenon: central sensitization (CS) of nociceptive neuronal networks, leading to increased sensitivity (hyperlgesia, allodynia) in the somatosensory system, the common ground of chronic neuropathic pain. Because CS is related to increased risk of painful OXAIPN, we hypothesized that preemptive use of the anti‐hyperalgesic drug pregabaline (known to decrease CS) during OXA infusions would decrease the incidence of chronic OXAIPN. Methods. Pain‐free, chemotherapy‐naïve CRC patients receiving at least one cycle of modified‐FLOX [5‐FU(500 mg/m2)+leucovorin(20 mg/m2)/week for] 6 weeks+oxaliplatin(85 mg/m2) at weeks 1‐3‐5 every 8 weeks] were randomized (1:1) into the study. Patients received either pregabalin or placebo for 3 days before and 3 days after each OXA infusion and were followed for up to 6 months. Clinical assessments were performed at baseline, at the end of chemotherapy, and after the follow‐up period. The main outcome was average pain at the last visit assessed by the visual analogic scale (0–10) item of the Brief Pain Inventory (BPI). Secondary endpoints were presence of neuropathic pain according to the Douleur Neuropathique‐4 (DN‐4), pain dimensions (short‐ form McGill Pain Questionnaire [MPQ]), Neuropathic Pain Symptom Inventory (NPSI), and changes in nerve conduction studies (NCS) and side effect profile. Results. One hundred ninety‐nine patients (57.0 ± 10.7 years old, 98 female, 101 male) were randomized. Data from 56 patients were not included in the analyses (as they did not receive at least one full cycle of modified FLOX). Data from 78 patients in the pregabalin group and 65 patients in the placebo group were retained for analyses. At the last visit, pain intensity in the pregabalin group was 1.03 (95% confidence interval [CI] = 0.79–1.26), and 0.85 (95% CI = 0.64–1.06) in the placebo group, which did not reach significance. Scores from the BPI, MPQ, DN‐4, NPSI, and NCS and side‐effect profiles and incidence of death did not differ between groups. Quality of life (QoL) score did not differ between groups (placebo = 76.9 ± 23.1, pregabalin group 79.4 ± 20.6). Mood scores were not significantly different between groups (placebo 9.7 [8.1–11.2]; pregabalin 6.8 [5.6–8.0]). Conclusion. The preemptive use of pregabalin during OXA infusions was safe, but did not decrease the incidence of chronic pain related to OXAIPN.