Infantile neuroaxonal dystrophy. An electron microscopic study of a case clinically resembling neuronal ceroid-lipofuscinosis
| Autor: | John F. Butzer, Syndney S. Schochet, William E. Bell |
|---|---|
| Rok vydání: | 1975 |
| Předmět: |
Childhood epilepsy
Pathology medicine.medical_specialty Lipidoses Pathology and Forensic Medicine Infantile neuroaxonal dystrophy Cellular and Molecular Neuroscience Seizures medicine Humans Electron microscopic Brain Diseases Unusual case medicine.diagnostic_test business.industry Brain biopsy Infant medicine.disease Axons Frontal Lobe Neuronal ceroid lipofuscinosis Female Neurology (clinical) Synaptic Vesicles business Spasms Infantile |
| Zdroj: | Acta neuropathologica. 31(1) |
| ISSN: | 0001-6322 |
| Popis: | An unusual case of infantile neuroaxonal dystrophy (INAD) in which seizures were the presenting and predominant clinical feature is described. Although the clinical manifestations were indistinguishable from neuronal ceroid-lipofuscinosis, the diagnosis was readily established by electron microscopic examination of the brain biopsy specimen. Even after the ultrastructural features were known, the dystrophic axons were not evident by light microscopy. This case broadens the clinical picture of INAD to include seizures as the presenting complaint and suggests that some patients with childhood epilepsy who "deteriorate" may have this genetically determined disease. |
| Databáze: | OpenAIRE |
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