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Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282X

Arq. Neuro-Psiquiatr. vol.37 no.1 São Paulo Mar. 1979

http://dx.doi.org/10.1590/S0004-282X1979000100009 

Neuronal Ceroid-lipofuscinosis with prominent chorea and without visual manifestations: a case report

 

Ceróide-lipofuscinose neurônica: estudo histoquímico e ultraestrutural de um caso com movimentos coreicos e sem distúrbios visuais

 

 

Luciano de Souza QueirozI; Joaquim Nogueira da Cruz NetoII

IPathologist. Department of Pathology (Chairman - Prof. Dr. J. Lopes de Faria), Faculdade de Ciências Médicas da Universidade Estadual de Campinas (UNICAMP), and the Instituto de Neurologia Clínica e Neurocirurgia de Limeira, SP
IINeurologist. Department of Pathology (Chairman - Prof. Dr. J. Lopes de Faria), Faculdade de Ciências Médicas da Universidade Estadual de Campinas (UNICAMP), and the Instituto de Neurologia Clínica e Neurocirurgia de Limeira, SP

 

 


SUMMARY

A case of neuronal ceroid-lipofuscinosis (NCL) is reported in a 11-year-old girl, whose main symptoms were progressive dementia since the age of 4 years and choreic movements since age 10. Seizures, myoclonus and visual deterioration were absent and optic fundi were normal. A cerebral biopsy disclosed two basic types of stored substance in the cytoplasm of neurons: a) severely balloned nerve cells in cortical layers HI and V contained a non-autofluorescent material, which stained with PAS and Sudan Black B in frozen, but not in paraffin sections; ultrastructurally, these neurons showed abundant corpuscles similar to the membranous cytoplasmic bodies of Tay-Sachs disease and, in smaller amounts, also zebra bodies; b) slightly distended or non-distended neurons in all layers contained lipopigment granules, which were autofluorescent, PAS-positive and sudanophil in both frozen and paraffin sections; their ultrastructure was closely comparable to that of lipofuscin. Similar bodies were found in the swollen segments of axons and in a few astrocytes and endothelial cells.
The histochemical and ultrastructural demonstration of large amounts of lipopigments allows a presumptive classification of the case as NCL. However, the presence of involuntary movements, the absence of visual disturbances and the unusual ultrastructural features place the patient into a small heterogeneous group within the NCL. A better classification of such unique instances of the disease must await elucidation of the basic enzymatic defects.


RESUMO

É relatado um caso de ceróide-lipofuscinose neurônica, excepcional por suas características clínicas e ultraestruturais. Trata-se de menina de 11 anos, cujos principais sintomas foram demência progressiva de início aos 4 anos e movimentos coreicos na face e membros a partir dos 10 anos. Convulsões, mioclonias, deficiência visual e anormalidades fundoscópicas não foram observadas. Uma biópsia cerebral revelou basicamente: a) em neurônios de aspecto abalonado nas camadas corticais III e V, acúmulo de material não-fluorescente, que era PAS-positivo e Sudan Black B - positivo em cortes de congelação, porém que perdia estas propriedades após inclusão em parafina; ao microscópio eletrônico, tais neurônios revelaram corpúsculos intracitoplasmáticos semelhantes aos "membranous cytoplasmic bodies" da doença de Tay-Sachs e alguns "zebra bodies"; b) neurônios pouco ou não distendidos em todas as camadas corticais continham grânulos PAS-positivos, Sudan Black B-positivos e autofluorescentes tanto em cortes de parafina como de congelação, cuja ultraestrutura era semelhante à da lipofuscina. Corpúsculos análogos foram observados em alguns axônios, astrócitos e células endoteliais.
A demonstração histoquímica e ultramicroscópica de grande quantidade de lipopigmentos no córtex cerebral permite-nos classificar o caso como ceróidelipofuscinose neurônica (CLN). Sua características ultraestruturais incomuns e peculiaridades clínicas como os movimentos coreicos e a falta de distúrbios visuais justificam porém situá-lo em um pequeno grupo especial nas CLN. Uma correta correta classificação só será possível após a descoberta dos defeitos enzimáticos responsáveis pela doença.


 

 

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From the Department of Pathology (Chairman - Prof. Dr. J. Lopes de Faria), Faculdade de Ciências Médicas da Universidade Estadual de Campinas (UNICAMP), and the Instituto de Neurologia Clínica e Neurocirurgia de Limeira, SP. Presented at the XII Brazilian Congress of Pathology, Campinas, July 1977.
Acknowledgements - The Gleb Wataghin Institute of Physics (UNICAMP), through the courtesy of Dr. Sonotao Tsugahara, granted us the use of the electron microscope. Dr. Anamarli Nucci and Prof. Dr. J. Lopes de Faria kindly reviewed the manuscript.
Departamento de Anatomia Patológica - Faculdade de Ciências Médicas da UNICAMP - Caixa Postal 1170 - 13100 Campinas, SP - Brasil.

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