Neonatal glycine encephalopathy: Biochemical and neuropathologic findings
| Autor: | David W. Lundgren, Joseph L. Potter, Dimitris P. Agamanolis |
|---|---|
| Rok vydání: | 1993 |
| Předmět: |
Male
Pathology medicine.medical_specialty Cerebellum Adolescent Hyperglycinemia Central nervous system Glycine Glycine encephalopathy Myelin Developmental Neuroscience Humans Medicine Spasticity Amino Acids Child Amino Acid Metabolism Inborn Errors Myelin Sheath Myelinopathy Calcium Oxalate Brain Diseases Metabolic business.industry Infant Newborn Brain Infant medicine.disease medicine.anatomical_structure Spinal Cord nervous system Neurology Child Preschool Pediatrics Perinatology and Child Health Neurology (clinical) medicine.symptom Crystallization business Follow-Up Studies |
| Zdroj: | Pediatric Neurology. 9:140-143 |
| ISSN: | 0887-8994 |
| DOI: | 10.1016/0887-8994(93)90051-d |
| Popis: | A patient with neonatal glycine encephalopathy who had severe neurologic retardation, spasticity, and seizures died at 17 years of age. Glycine concentration was markedly elevated in brain tissue, especially in the cerebellum. Neuropathologic study revealed spongy myelinopathy throughout the central nervous system and calcium oxalate crystals in the cerebellum, which are probably derived from degradation of glycine. Myelinopathy appeared to be static compared to neonatal patients. The neurologic manifestations of neonatal glycine encephalopathy are probably due to neurotransmitter abnormalities, not to myelin damage. |
| Databáze: | OpenAIRE |
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