Hamartoma fibrolipomatoso de nervo mediano: relato de caso / Fibrolipomatous hamartoma of the median nerve: case report

Fibrolipomatous hamartoma is a rare benign neoplasm that in some cases is associated with macrodactylia. We describe a 31-year-old man who had a tissue enlargement in the wrist, second and third fingers of the left hand since infancy. At 23-years-old he began with continuous, progressive and high intensity pain that occurred more frequently at night, localized in the left hand. It was associated with paraesthesias and hypostesias predominantly at the fingers described above. Investigation with X-ray, ultrasonography, electrodiagnosis, magnetic resonance image of the left wrist and hand showed carpal tunnel syndrome with macrodactylia by fibrolipomatous hamartoma of the median nerve. The patient did not a have good response to clinical therapy, so he was submitted to a surgical decompression of the left carpal tunnel, and after three months of follow up is asymptomatic.

O hamartoma fibrolipomatoso é neoplasia benigna rara que em alguns casos esta associada com macrodactilia. Descrevemos o caso de homem de 31 anos que apresentava desde o nascimento aumento de volume em região de punho, segundo e terceiro quirodáctilos da mão esquerda. Aos 23 anos iniciou dor contínua, de forte intensidade, predominante no período noturno e de evolução progressiva em mão esquerda. Associada à dor havia hipoestesia e parestesias de predomínio nos segundo e terceiro quirodáctilos esquerdos. A investigação complementar com radiografia, ultrassonografia, estudo eletrofisiológico e ressonância magnética de mão e punho esquerdos confirmaram a suspeita de síndrome do túnel do carpo secundária a macrodactilia com hamartoma fibrolipomatoso do nervo mediano. O paciente foi submetido à descompressão cirúrgica do túnel do carpo esquerdo devido a ausência de resposta ao tratamento clínico e evoluiu com melhora dos sintomas em avaliação após três meses do procedimento.

Infection of the CNS by Scedosporium apiospermum after near drowning. Report of a fatal case and analysis of its confounding factors.

This report describes a fatal case of central nervous system pseudallescheriasis. A 32 year old white man presented with headache and meningismus 15 days after nearly drowning in a swine sewage reservoir. Computerised tomography and magnetic resonance imaging of the head revealed multiple brain granulomata, which vanished when steroid and broad spectrum antimicrobial and antifungal agents, in addition to dexamethasone, were started. Cerebrospinal fluid analysis disclosed a neutrophilic meningitis. Treatment with antibiotics and amphotericin B, together with fluconazole and later itraconazole, was ineffective. Miconazole was added through an Ommaya reservoir, but was insufficient to halt the infection. Pseudallescheria boydii was finally isolated and identified in cerebrospinal fluid cultures, a few days before death, three and a half months after the symptoms began. Diagnosis was delayed because of a reduction in the lesions after partial treatment, which prevented a stereotactic biopsy. Physicians should be aware of this condition, and provide prompt stereotactic biopsy. Confirmed cases should perhaps be treated with voriconazole, probably the most effective, currently available treatment for this agent.

Hereditary motor and sensory neuropathy with congenital glaucoma. Report on a family.

We report three siblings of a family with hereditary motor and sensory polyneuropathy (HMSN) and buphthalmos. Electrophysiological studies showed a demyelinating neuropathy and pathological findings showed severe loss of myelinated fibers (MF), thin myelin sheaths and myelin infoldings in a few remaining MF. The presumed mode of inheritance is autosomal recessive. This family probably represents an unique form of CMT4 that may be related to one of the congenital glaucoma genic locus, particularly GLC3A and GLC3B, described in Turkish families.

[Technical recommendations for the electroencephalogram (EEG) recording in suspected brain death]. / Recomendações técnicas para o registro do eletrencefalograma (EEG) na suspeita da morte encefálica.

Brazilian Clinical Neurophysiology Society guidelines and pertaining comments concerning electroencephalogram (EEG) recording in suspected brain death are presented. EEG is not intended as a substitute, rather as a complement to neurologic evaluation.

Barbiturate-refractory epilepsy: safe schedule for therapeutic substitution.

Barbiturates are considered first line antiepileptic drugs in third world countries due to traditional and economic reasons. This prospective uncontrolled study of 52 patients aged 15 to 64 years (mean 24) demonstrates that patients who become refractory to barbiturates are mainly those with partial seizures with or without generalization or with a focal EEG abnormality (71%). Seizures tend to become refractory approximately 6 years after barbiturates were started. Progressive barbiturate withdrawal over a period of two to 8 months (mean 5) with institution of treatment with carbamazepine, phenytoin or sodium valproate allowed complete barbiturate withdrawal in 42 of the 52 patients (81%). Furthermore monthly seizure frequency in those in whom barbiturates were withdrawn decreased from 7.1 to 1.7 per patient. An improvement in mental status was observed but not measured. These results show that barbiturates should not be first-choice drugs in patients who have a chronic disease such as epilepsy, and indicate a schedule for barbiturate withdrawal which is safe and independent of hospitalization or monitoring of antiepileptic drug serum concentrations.

[Nemaline myopathy: report of a case with a histochemical and electron microscopy study]. / Miopatia nemalínicca: relato de um caso com estudo histoquímico e microscopia eletrônica.

Report of a case of a male child, with hypotonia since birth, along with severe feeding difficulties due to lack of swallowing, that resulted in a permanent gastrostomy. Despite the delayed motor development, he had a normal intelligence. An electromyography was suggestive of primary muscle involvement. A fresh-frozen muscle biopsy stained by the modified Gomori trichrome and processed by histochemistry and electron microscopy presented the typical nemaline rods and deficiency of type II muscle fibers. It is made a brief revision about the clinical symptoms, origin and pathogenesis of nemaline bodies. The case reported probably represents a nemaline myopathy, of the congenital type.

Miopatia nemalinica: relato de um caso com estudo histoquimico e microscopia eletronica. / Nemaline myopathy: report of a case with histochemical and electron microscopy study

Relato do caso de crianca do sexo masculino, com hipotonia e dificuldades de degluticao desde os primeiros dias de vida, necessitando gastrostomia permanente. Apresentava retardo no desenvolvimento motor.A eletromiografia sugeria envolvimento muscular primario e a biopsia muscular, processada a fresco, histoquimica e pela microscopia eletronica, revelou corpos nemalinicos classicos e deficiencia de fibras do tipo II. Sao feitos comentarios a respeito dos sintomas e formas clinicas, origem e patogenia dos corpos nemalinicos, sendo o caso relatado caracterizado como miopatia nemalinica do tipo congenito

["Central core" myopathy: report of a case]. / Miopatia do "core central": relato de um caso.

A case of a 6-years-old boy with delayed motor milestones, hypotonia since birth (floppy baby), showing a partial improvement in the latter years is reported. On physical examination was found diffuse muscle atrophy, lordosis, generalized hyporeflexia and Gowers maneuver during standing procedure. Serum enzymes were normal and electromyography had potential with increased duration and excess of polyphasic potentials. Fresh-frozen muscle biopsy processed by histochemistry showed type 1 fiber predominance, absence of oxidative enzyme activity in the center of the fibers (central cores) and slight increased of the ATPase reaction in the cores area (structured cores?). Is made a brief discussion about the pathology, pathogenesis, and the good prognosis of the disease.

Miopatia do core central: relato de um caso. / Myopathy of central core: report of a case

E relatado o caso de um menino de 6 anos, branco, que apresentou hipotonia desde o nascimento, e retardo no desenvolvimento motor, que vem regredindo parcial e espontaneamente.A investigacao laboratorial foi normal, com eletromiografia alterada. A biopsia muscular processada pela histoquimica, revelou importante predominio de fibras do tipo I, ausencia de atividade no centro das fibras musculares para as enzimas DPNH-diaforase e desidrogenase succinica, com atividade normal e ate aumentada em algumas fibras durante as reacoes para as ATPases. Sao feitos breves comentarios a respeito da patologia e patogenia, enfatizando a benignidade da doenca

[Tubular aggregates in a case of chronic proximal spinal atrophy]. / Agregados tubulares em caso de atrofia espinhal crônica proximal.

The case of a 35 years-old man, with chronic proximal muscle atrophy in which at the muscle biopsy tubular aggregates were found by histochemistry procedures is reported. The tubular aggregates stained positive with the modified Gomori trichrome, haematoxylin-eosin, DPNH-diaphorase, non specific esterases, phosphorylase, P.A.S., oil red O and lactate dehydrogenase. They did not show in the routine and acid pre-incubated ATPase, acid and alkaline phosphatases and succinate dehydrogenase. Only found in type II fibers. A brief discussion about the pathogenesis and function of the tubular aggregates is made. The authors believe that the tubular aggregates in this case are secondary to prolonged use of phenobarbital and diphenylhydantoin, associated with the basic denervation process and alcohol abuse.