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Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282X

Arq. Neuro-Psiquiatr. vol.37 no.2 São Paulo June 1979

http://dx.doi.org/10.1590/S0004-282X1979000200008 

Adrenoleucodistrofia (leucodistrofia melanodermica): registro de um caso anatomo-clinico

 

Adrenoleukodystrophy (melanodermic leukodystrophy): report of a clinico-pathological case

 

 

Mario Wilson Iervolino BrottoI; Milberto ScaffI; José Paulo Smith NobregaI; Conceição G. CuryII; Jamil SalumII;  Horacio Martins CanelasI

IDepartamento de Neuropsiquiatria (Divisão de Clínica Neurológica) da Faculdade de Medicina da Universidade de São Paulo
IIDepartamento de Patologia da Faculdade de Medicina da Universidade de São Paulo

 

 


RESUMO

É relatado o caso de um paciente de 14 anos, do sexo masculino, com esclerose cerebral difusa precedida em 7 anos de sinais de insuficiência do córtex supra-renal, com antecedentes familiares. Clinicamente a doença é caracterizada por deterioração mental, distúrbios da marcha e da visão, associados com insuficiência do córtex supra-renal. Confirmando os dados da literatura, em nosso caso o estudo anátomo-patológico revelou desmielinização e gliose difusa na substância branca cerebral, poupando as fibras subcorticais. Células inflamatórias são comuns e têm distribuição perivascular. Na zona fasciculada e reticular da supra-renal, células "balonadas" são evidentes, muitas delas apresentando citoplasma vacuolizado e com estriações. Inclusões lipídicas similares têm sido encontradas nas células de Schwann dos nervos periféricos e dos testículos. Os achados são comparados com vinte casos da literatura.


SUMMARY

The case of a 14-year-old boy with "diffuse cerebral sclerosis", preceded by signs of primary adrenal cortical insufficiency for 7 years with familiar antecedents is reported. This disorder, named adrenoleukodystrophy, has a sex-lin(ed recessive inheritance. The clinical picture is characterized by mental deterioration, gait disturbances, visual impairment, associated with primary adrenal cortical insufficiency. Confirming the data from literature, in our case the pathological study showed myelin degeneration and diffuse gliosis in the cerebral white matter, with no involvement of subcortical fibers. Inflammatory cells are common, and have a perivascular distribution. In the fasciculata and reticular zones of the adrenal gland, "baloon-shaped" cells are evident, most of them presenting a vacuolized and striated cytoplasm. Similar lipidic inclusions have been found in the Schwann cells of the peripheral nerves and testis. The findings are compared with twenty cases from the literature.


 

 

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Trabalho dos Departamentos de Neuropsiquiatria (Divisão de Clínica Neurológica) e de Patologia da Faculdade de Medicina da Universidade de São Paulo.
Clínica Neurológica do Hospital das Clinicas - Faculdade de Medicina da Universidade de São Paulo - Caixa Postal 30.667 - 01000 São Paulo SP - Brasil.

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