Spinal Muscular Atrophy: Autopsy Based Neuropathological Demonstration
| Autor: | Balamurugan Thirunavukkarasu, Narendran Dhanasekaran, Kirti Gupta, Arun K. Baranwal, Akriti Bansal |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Male
Pathology medicine.medical_specialty Autopsy Degeneration (medical) Spinal Muscular Atrophies of Childhood 030218 nuclear medicine & medical imaging Muscular Atrophy Spinal 03 medical and health sciences 0302 clinical medicine medicine Humans Neurogenic atrophy Motor Neurons business.industry Infant Spinal muscular atrophy SMA Spinal cord medicine.disease Skeletal muscle biopsy Muscular Atrophy medicine.anatomical_structure Neurology Spinal Cord Neurology (clinical) Differential diagnosis business 030217 neurology & neurosurgery |
| Zdroj: | Neurology India. 68(4) |
| ISSN: | 1998-4022 |
| Popis: | Spinal muscular atrophy (SMA) encompasses a group of disorders with loss of spinal motor neurons.The report describes the neuropathological findings including brain and spinal cord at autopsy in a five-and-half-month-old boy with suspected type 1 SMA. The anterior motor neurons, Clarke's column at all the levels of spinal cord showed neuronal loss and degeneration while neurons at all the deep grey nuclei were preserved apart from variable degree anoxic changes. Skeletal muscle biopsy revealed features of neurogenic atrophy consistent with SMA. A differential diagnosis like storage disorders was excluded using electron microscopy. No extra-neural manifestations were seen. Neuropathological features at autopsy have seldom been reported in the literature. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|