Maria Teresa Alves Hirata

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.

Behçet's Disease: A Rare Case of Simultaneous Pulmonary and Cerebral Involvement

B ehcets disease is a clinical syndrome of unknown etiology, originally described in 1937, in which the classic triad was iritis and oral and genital ulceration [1]. Since then, the advances of immunology and anatomopathology as well as numerous reports of other manifestations indicate that Behcets disease is a systemic vasculitis affecting the skin, joints, eyes, gastrointestinal tract, neural tissue, and blood vessels [2,3]. Thoracic involvement, which includes pulmonary artery aneurysms, superior and inferior venocaval obstruction, pulmonary infiltrates, pulmonary infarction, recurrent pneumonias, pleural effusion, and irreversible airways obstruction, is uncommon [4]. Central nervous system disorders include a brain stem syndrome, an organic confusional state, and a meningomyelitic illness. The cerebral vein thrombosis manifesting as intracranial hypertension can be seen in Behcets disease and may be the initial manifestation [5-8]. We report a rare case of Behcets syndrome in which pulmonary artery aneurysms and intracranial venous thromboses occurred simultaneously.

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.

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.

Terapêutica intravenosa com metilprednisolona e ciclofosfamida na vasculite do sistema nervoso periférico: avaliaçäo de oito pacientes

O comprometimento do sistema nervoso periferico e frequente nas vasculites sistemicas e contribui decisivamente para o diagnostico. Oito pacientes foram estudados: sete do sexo feminino e um do sexo masculino; cinco brancos, dois negros, um amarelo; media de idade de 55,9 anos; quatro com poliarterite nodosa, um com lupus eritematoso sistemico, um com artrite reumatoide, um com vasculite isolada do sistema nervoso periferico e um com vasculite livedoide. Todos foram submetidos a terapeutica intravenosa com pulsos mensais de metilprednisolona (1 g/dia/3dias) e ciclofosfamida (1 g/dia). Cinco pacientes melhoraram, dois permaneceram inalterados e um faleceu. A melhora neurologica objetiva ocorreu apos o terceiro ou quarto pulso e nos pacientes com menor duracao da doenca.

Dermatopolimiosite: avaliação de 63 pacientes

Sixty-three patients with dermatopolymyositis were evaluated from the clinical, laboratory and therapeutical aspects during a period of 15 years: 39 are womem and 24 men. The mean age was 36.8 ± 15.6 years. No correlation was observed between clinical and isolated therapeutics employed; when corticosteroids and cytolytic drugs were used simultaneously, the clinical response was satisfactory. No special fact was seen that can predict the therapeutical response.

Pseudotumor cerebral na síndrome de Behcet: registro de um caso

Os autores descrevem um caso de sindrome de Behcet tendo como manifestacao neurologica quadro de pseudo tumor cerebral (PTC). E realcada a possibilidade de trombose venosa cerebral desencadear PTC na sindrome de Behcet.The authors describe one patient with Behçets disease who had pseudotumor cerebri as a neurological manifestation. The possibility of pseudotumor cerebri due cerebral venous thrombosis in Behçets disease is emphasized.