Neuropathy of metachromatic leucodystrophy
| Autor: | John Pearce, K. L. De Silva |
|---|---|
| Rok vydání: | 1973 |
| Předmět: |
Pathology
medicine.medical_specialty Biopsy Genetic counseling medicine.medical_treatment Central nervous system Neural Conduction Sural nerve Blood Sedimentation Disease Sural Nerve medicine Humans Pneumoencephalography Child medicine.diagnostic_test Electromyography business.industry Brain Infant Peripheral Nervous System Diseases Diffuse Cerebral Sclerosis of Schilder Electroencephalography Articles medicine.disease Dermatology Blood Cell Count Psychiatry and Mental health medicine.anatomical_structure Peripheral neuropathy Etiology Female Surgery Neurology (clinical) business |
| Zdroj: | Journal of Neurology, Neurosurgery & Psychiatry. 36:30-33 |
| ISSN: | 0022-3050 |
| DOI: | 10.1136/jnnp.36.1.30 |
| Popis: | We describe two patients with metachromatic leucodystrophy who presented with peripheral neuropathy and had no evidence of central nervous system involvement at the time of presentation. Such an occurrence is not well recognized and the diagnosis is usually missed until the other features of the disease manifest themselves. Early recognition of this disease may become of practical importance from the point of view of therapy, judging from recent developments, and is also important from the point of view of genetic counselling. We suggest that cases of peripheral neuropathy in infancy and childhood, should be subjected to peripheral nerve biopsy when the aetiology is not obvious. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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