Neuronal Ceroid-lipofuscinosis with prominent chorea and without visual manifestations: a case report
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 disclos...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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Academia Brasileira de Neurologia (ABNEURO)
1979-03-01
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| Series: | Arquivos de Neuro-Psiquiatria |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1979000100009&lng=en&tlng=en |
| _version_ | 1811315679876349952 |
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| author | Luciano de Souza Queiroz Joaquim Nogueira da Cruz Neto |
| author_facet | Luciano de Souza Queiroz Joaquim Nogueira da Cruz Neto |
| author_sort | Luciano de Souza Queiroz |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-13T11:35:14Z |
| format | Article |
| id | doaj.art-83f151d0e6194698b959a37d82164bb8 |
| institution | Directory Open Access Journal |
| issn | 1678-4227 |
| language | English |
| last_indexed | 2024-04-13T11:35:14Z |
| publishDate | 1979-03-01 |
| publisher | Academia Brasileira de Neurologia (ABNEURO) |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj.art-83f151d0e6194698b959a37d82164bb82022-12-22T02:48:28ZengAcademia Brasileira de Neurologia (ABNEURO)Arquivos de Neuro-Psiquiatria1678-42271979-03-01371617010.1590/S0004-282X1979000100009S0004-282X1979000100009Neuronal Ceroid-lipofuscinosis with prominent chorea and without visual manifestations: a case reportLuciano de Souza Queiroz0Joaquim Nogueira da Cruz Neto1Universidade Estadual de CampinasUniversidade Estadual de CampinasA 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1979000100009&lng=en&tlng=en |
| spellingShingle | Luciano de Souza Queiroz Joaquim Nogueira da Cruz Neto Neuronal Ceroid-lipofuscinosis with prominent chorea and without visual manifestations: a case report Arquivos de Neuro-Psiquiatria |
| title | Neuronal Ceroid-lipofuscinosis with prominent chorea and without visual manifestations: a case report |
| title_full | Neuronal Ceroid-lipofuscinosis with prominent chorea and without visual manifestations: a case report |
| title_fullStr | Neuronal Ceroid-lipofuscinosis with prominent chorea and without visual manifestations: a case report |
| title_full_unstemmed | Neuronal Ceroid-lipofuscinosis with prominent chorea and without visual manifestations: a case report |
| title_short | Neuronal Ceroid-lipofuscinosis with prominent chorea and without visual manifestations: a case report |
| title_sort | neuronal ceroid lipofuscinosis with prominent chorea and without visual manifestations a case report |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1979000100009&lng=en&tlng=en |
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