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Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282X

Arq. Neuro-Psiquiatr. vol.32 no.1 São Paulo Mar. 1974

https://doi.org/10.1590/S0004-282X1974000100001 

Neuronal ceroid-lipofuscinosis, a type of amaurotic family idiocy. Clinical and pathological study of four cases

 

Ceróide-lipofuscinose neuronal, um tipo de idiotia amaurótica familiar: estudo clínico-patológico de quatro casos

 

 

Luciano de Souza QueirozI; Joaquim N. da Cruz NetoII; J. Lopes de FariaIII

IFaculdade de Ciências Médicas da Universidade Estadual de Campinas. Intern, Dept. of Pathology
IIFaculdade de Ciências Médicas da Universidade Estadual de Campinas. Resident, Dept. of Clinical Neurology and Neurosurgery (Late Chairman — Prof. O. F. Julião)
IIIFaculdade de Ciências Médicas da Universidade Estadual de Campinas. Chairman, Dept. of Pathology

 

 


SUMMARY

Neuronal ceroid-lipofuscinosis (NCL) is a recent term, proposed for acurate designation of the late-onset types of Amaurotic Family Idiocy (AFI).
Histopathology shows ubiquitous intraneuronal accumulation of lipopigments, being the most important factor for characterization of the entity at present time. Biochemical changes and pathogenesis are obscure. NCL is in contrast to the infantile type of AFI (Tay-Sachs disease), in which intraneuronal accumulation of gangliosides (sphingolipids) is due to the well known deficiency of a lysosomal enzyme.
The authors report on four cases of NCL, two brothers of the late infantile (Jansky-Bielschowsky) type and a brother and a sister of the juvenile (Spielmeyer-Sjögren) type. One autopsy and three cortical biopsies revealed moderate to severe distention of the neurons by lipopigment, with nerve cell loss, gliosis and cerebral atrophy. Lipopigment was also increased in liver, heart and spleen. The patients were the first in Brazilian literature in whom the storage material was identified as lipopigment by histochemical methods.
A brief summary of the clinical features of NCL is presented, and relevant problems are discussed, concerning interpretation of the nature of the storage material, and significance of the disease for gerontological research.


RESUMO

Estudos histoquímicos, bioquímicos e ultraestruturais permitiram recentemente distinguir dois tipos de entidades nosológicas dentre as doenças conhecidas como "Idiotia amaurótica familiar" (IAF). O primeiro, que inclue a doença de Tay-Sachs, ou tipo infantil de IAF, é constituido por doenças de armazenamento de gangliósides. Sua patogenia é conhecida, baseando-se em deficiências de enzimas lisossômicos. O segundo grupo, cuja patogenia é desconhecida, foi recentemente designado "Ceróide-lipofuscinose neuronal" (CLN) por Zeman e colaboradores. Corresponde aos tipos infantil tardio, juvenil e adulto de IAF, caracterizando-se histopatologicamente pelo acúmulo intraneuronal de lipopigmentos.
Os autores descrevem quatro casos de Ceróide-lipofuscinose neuronal, sendo dois irmãos do tipo infantil tardio (Jansky-Bielschowsky) e um casal de irmãos do tipo juvenil (Spielmeyer-Sjögren). Uma autópsia e três biópsias corticais revelaram distensão de moderada a intensa dos neurônios por lipopigmentos, assim como gliose e atrofia cerebral generalizada. Acúmulo simi- lar foi também encontrado no baço, no fígado e no miocárdio. Os casos descritos são os primeiros da literatura brasileira em que o material de acúmulo foi identificado histoquimicamente como lipopigmento.
Além de breve resumo da clínica da CLN, discutem-se problemas relativos à identificação da substância intraneuronal por histoquímica e microscopia eletrônica.


 

 

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Address reprint requests to: Prof. J. Lopes de Faria — Faculdade de Ciências Médicas — Dept.º de Anatomia Patológica — Caixa Postal 1170 — 18100 Campinas, SP — Brazil.
Presented in part at the Fifth Brazilian Congress of Neurology, São Paulo, July 1972, and at the Neurological Meeting of the Associação Paulista de Medicina, São Paulo, October 1972. This study is dedicated to the memory of Prof. Oswaldo Freitas Julião.
Acknowledgements — The authors are indebted to Dr. Alberto Pellegrini F.° for the clinical observation of case 3, to Dr. Nubor O. Facure for the cerebral biopsies, to Dr. Leoncio S. Queiroz F.° for the histopathologic description of the eye, and to Dr. and Mrs. John Cook Lane for revision of the manuscript. The skillful technical assistance of Mr. Ismael Vencio (histopathology) and Mr. Mauro Sanches (photographs) is greatly appreciated.

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