Neuronal Ceroid-lipofuscinosis with prominent chorea and without visual manifestations: a case report
| Autor: | Luciano de Souza Queiroz, Joaquim N. da Cruz Neto |
|---|---|
| Rok vydání: | 1979 |
| Předmět: |
Pathology
medicine.medical_specialty Choreiform movement Chorea Anatomy Biology medicine.disease lcsh:RC321-571 Lipofuscin chemistry.chemical_compound Neurology chemistry Cytoplasm medicine Ultrastructure Neuronal ceroid lipofuscinosis Neurology (clinical) Sudan Black B medicine.symptom lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry Myoclonus |
| Zdroj: | Arquivos de Neuro-Psiquiatria, Vol 37, Iss 1, Pp 61-70 (1979) Arquivos de Neuro-Psiquiatria v.37 n.1 1979 Arquivos de neuro-psiquiatria Academia Brasileira de Neurologia instacron:ABNEURO |
| ISSN: | 0004-282X |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|