Autosomal dominant HMSN with proximal involvement: new Brazilian cases / HMSN autossômica dominante com envolvimento proximal: novos casos brasileiros

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.

Relatamos os casos de quatro irmãos brasileiros com Neuropatia Sensitivo Motora Hereditária com Envolvimento Proximal Dominante (HMSN-P), uma forma rara de HMSN caracterizada por fraqueza muscular de predomínio proximal e atrofia de instalação após os 30 anos, fasciculações, arreflexia, distúrbios sensitivos e padrão de herança autossômica dominante. Os estudos eletrofisiológicos e de biópsia do nervo sural confirmaram o diagnóstico de polineuropatia sensitivo-motora com padrão lesional axonal. Laboratorialmente foram constatadas anormalidades séricas no metabolismo lipídico e enzimas musculares. Nosso relato é o primeiro feito por um grupo fora do Japão, onde a doença parecia restrita até então e ressalta a variabilidade fenotípica apresentada nos casos Brasileiros.

Clinicopathologic analysis of 124 biopsy-proven peripheral nerve diseases

We reviewed dinical, histological and ultrastructural findings of 124 cases of sural nerve biopsy specimens to delineate the trends of peripheral nerve diseases in our institute. Eighty-one were men and 43 were women. We categorized them into five groups: specific diagnosis (66 cases, 53.2%), axonal degeneration type (47 cases, 37.9%), demyelinating type (4 cases, 3.2%), mixed axonal degeneration-demyelinating type (6 cases, 4.8%) and normal (1 case, 0.9%). Cases with specific diagnosis included 21 inflammatory demyelinating polyneuropathy (15 chronic inflammatory demyelinating polyradiculoneuropathy, 6 Guillain-Barre disease), 13 hereditary motor and sensory neuropathy (7 Charcot-Marie-Tooth type I, 6 Charcot-Marie-Tooth type II), 10 vasculitis, 6 toxic neuropathy, 4 leprosy, 3 diabetic neuropathy, 2 alcoholic neuropathy, 1 Fabry's disease and other specific diseases (5 cases). In our cases, the proportion of specific diagnoses was higher, while the proportion of demyelinating peripheral neuropathies and normal were lower than those of Western series. The results of this study indicate that 1) a dose clinicopathologic correlation is important to make a precise diagnosis of peripheral nerve biopsy, 2) Biopsy under strict indication may reduce unnecessary histologic examination, 3) There is no difference in disease pattern of peripheral neuropathy between Western people and Koreans.

Recent concepts in the pathophysiology and evaluation of spasticity / Conceptos recientes en la evaluación y fisiopatología de la espasticidad

La espasticidad es aún un desafío a médicos y científicos. Revisamos aquí los conceptos modernos acerca del compromiso de las fibras aferentes la II, III y IV así como también de aquellas que participan en la inhibición presináptica, la modulación de las células de Renshaw e hiperexcitabilidad de las motoneuronas alfa y gama que tienen que ver con este problema médico. Los estudios neurofisiológicos más comunes para evalaur la espasticidad humana son brevemente discutidos

Hypertrophic neuropathy with complete conduction block: hereditary motor and sensory neuropathy type III

Hypertrophic neuropathy is a non-specific consequence of repeated demyelination and remyelination, encountered in a wide range of inherited and acquired disorders. We report an 11-year-old boy with HMSN III, a kind of hypertrophic neuropathy, with clinical, electrophysiologic and pathologic data. The electrophysiologic studies show complete conduction block in the upper and lower extremities with severe abnormal spontaneous activities. The pathologic findings of sural nerve reveal prominent hypomyelination, onion bulb formation, and severe endoneurial collagenization. Complete conduction block with the preservation of fair to good grade muscle strength is an unusual finding in hypertrophic neuropathy and other peripheral neuropathies, in general.

Neuropatia sensitiva aguda idiopática: relato de caso / Acute idiopathic sensory neuropathies: a case report

As neuronopatias sensitivas caracterizam-se por parestesis, ataxia sensitiva e arreflexia sem comprometimento motor, devidas a lesäo no gânglio sensitivo dorsal, com degeneraçäo axonal e do cordäo posterior da medula espinhal. Descrevemos o caso deuma paciente de 21 anos de idade, cuja doença se iniciou de modo agudo com parestesias distais, astasia, abasia e hiporreflexia. Força muscular normal. A conduçäo nervosa sensitiva estava ausente e a motora, discretamente reduzida. LCR com 2 leucócitos/mm3 e 1,06 g/dL de proteínas. A biópsia de músculo evidenciou atrofia de fibras tipo 2 e a biópsia do nervo sural, desmielinizaçäo axonal. Tratada com prednisona, permaneceu discreto déficit proprioceptivo nos pés após um ano e meio de evoluçäo. Säo discutidos aspectos clínicos do envolvimento dos gânglios sensitivos dorsais, possíveis etiologia tóxicas, a relaçäo com neoplasias e com a síndrome de Sjogren

Neuropatía amiloidea hereditaria: forma predominantemente disautonómica / Hereditary amyloid neuropathy with dysautonomic dysfunction

Presentamos un paciente de 38 años, quien consultó por presentar desde 6 años antes impotencia sexual, diarrea, hipotensión postural y parestesias en miembros inferiores. Tenía antecedentes familiares de cuadros similares. El diagnóstico clínico de neuropatía amiloidea hereditaria fue sospechado frente a una neuropatía periférica, con disautonomía y antecedentes familiares. La biopsia de nervio periférico confirmó el diagnóstico. Nosotros nos preguntamos si la disfunción disautonómica tan severa de nuestro paciente es otra variedad de neuropatía amiloidea hereditaria o sólo una variante del tipo I de Corino Andrade

Doença de Thévenard / Thevenard disiase

A doença de Thévenard ou acropatia ulceromutilante familial é uma síndrome autossômica dominante composta de neuropatia sensorial e alteraçoes tróficas dos membros inferiores. A sintomatologia pode iniciar-se em qualquer período da infância. A reduçao da sensibilidade é bilateral e simétrica, enquanto a motricidade permanece intacta. Dois novos casos sao descritos.

A Case of Progressive Hypertrophic Neuropathy in Childhood with Facial Diplegia: Dejerine-Sottas Disease

Due to unknown underlying biochemical disorders, the delineation of Dejerine-sottas disease has been subject to recent controversy. This is a case of a 9 year-old Korean female with the clinical manifestations of sporadic occurence, chronic severe and symmetrical motor sensory polyneuropathy, thickened palpable peripheral nerves, facial diplegia, areflexia and abnormal pupillary reactivity to light. The electrophysiological studies are indicative of chronic demyelination neuropathy showing markedly slowed motor NCV, low and dispersed CMAPs and extreme dispersion of a SNAP. The pathology of the sural nerve reveals prominant hypomyelination and onion bulbs characterized by whorling concentric proliferations of the cytoplasmic processes of Schwann cells. The nosological problems of hypertrophic neuropathy in childhood are discussed.