Cerebellar hypoplasia in children with the carbohydrate-deficient glycoprotein syndrome
| Autor: | P. R. Jensen, F. Skovby, F. J. Hansen |
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| Rok vydání: | 1995 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Cerebellum Pathology Ataxia Neurology Central nervous system disease Humans Medicine Radiology Nuclear Medicine and imaging Child Cerebellar hypoplasia chemistry.chemical_classification business.industry Infant Syndrome medicine.disease Hypoplasia medicine.anatomical_structure chemistry Child Preschool Failure to thrive Female Neurology (clinical) medicine.symptom Tomography X-Ray Computed Cardiology and Cardiovascular Medicine business Glycoprotein Carbohydrate Metabolism Inborn Errors |
| Zdroj: | Neuroradiology. 37:328-330 |
| ISSN: | 1432-1920 0028-3940 |
| Popis: | We describe seven children with the carbohydrate-deficient glycoprotein syndrome, an autosomal recessive inborn error of protein glycosylation characterised by failure to thrive, neurological dysfunction and a unique pattern of physical abnormalities. Neuro-radiological investigations revealed cerebellar hypoplasia in all seven children. Two children also developed supratentorial atrophy following episodes of neurological deterioration. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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