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Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282X

Arq. Neuro-Psiquiatr. vol.38 no.3 São Paulo Sept. 1980

http://dx.doi.org/10.1590/S0004-282X1980000300003 

Leucodistrofia metacromatica: relato de dois casos com histoquimica de nervos e musculos

 

Metachromatic leukodistrophy: report of two cases with histochemistry of nerves and muscles

 

 

Lineu Cesar WerneckI; José Luiz Pinto PereiraII; Isac BruckIII

IProfessor Assistente de Neurologia. Departamento de Clínica Médica, da Universidade Federal do Paraná (Curitiba, PR)
IIMédico Residente de Neurologia. Departamento de Clínica Médica, da Universidade Federal do Paraná (Curitiba, PR)
IIIProfessor Assistente de Neuropediatria, do Departamento de Pediatria. Departamento de Clínica Médica, da Universidade Federal do Paraná (Curitiba, PR)

 

 


RESUMO

Relato de dois casos de leucodistrofia metacromática, forma infantil tardia, em um paciente do sexo feminino e outro do masculino, que se desenvolveram normalmente nos primeiros anos de vida e que lentamente passaram a apresentar dificuldades para deambular, retardo mental e motor progressivo, sinais de envolvimento de tratos longos e sobrevivendo em forma vegetativa. A investigação revelou sinais de denervação nos músculos estudados. A velocidade de condução nervosa motora estava muito reduzida, não apresentavam qualquer atividade de arilsulfatase A na urina, possuiam grânulos metacromáticos na biópsia de nervos periféricos, tinham atrofia de fibras do tipo 1 na biópsia muscular e presença de material metacromático nos filetes nervosos intramusculares. É realizada revisão sobre a transmissão da doença, patogenia, métodos de diagnóstico e formas variantes.


SUMMARY

Two cases of metachromatic leukodistrophy, of the late infantile form are reported. The patients were a girl and a boy of 2 years 10 months old, with initial normal development, but by the age of 18 months began with gait disturbances, difficulty to speak and developed progressive mental deteriotation, with signs of long tract involvement, abscence of deep tendon reflexes, spasticity, blindness, muscle atrophy and finished in a vegetative state. The diagnosis was made by electromiography (signs of denervation), motor nerve conduction velocity (very decreased), assay of arylsulfatase A in the urine (absence of activity), sural nerve biopsy (demielinization and presence of metachromatie granules by the cresyl-violet and toluidine blue) and muscle biopsy (atrophy of type I fibers and presence of metachromatic material in the intramuscular nerve fibers). A quick revision about diagnostic methods, transmission, pathogenesis and variant forms is made.


 

 

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Trabalho realizado na Disciplina de Neurologia, do Departamento de Clínica Médica, da Universidade Federal do Paraná (Curitiba, PR).
Disciplina de Neurologia - Departamento de Clínica Médica da Universidade Federal do Paraná - Hospital de Clínicas - Rua General Carneiro 180 - 80000 Curitiba, PR - Brasil.

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