Prenatal hypertrophic cardiomyopathy and pericardial effusion in carbohydrate-deficient glycoprotein syndrome
| Autor: | F. Guttierrez-Larraya, A. Chasco Yrigoyen, M. T. García Silva, J. de Castro, H. Stibler, R Simón, F Mateos, I. Ferrer, S. Madero, J. M. Velasco |
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| Rok vydání: | 1996 |
| Předmět: |
Male
Pathology medicine.medical_specialty Cardiomyopathy Pericardial effusion Pericardial Effusion Pericarditis Congenital Disorders of Glycosylation Fatal Outcome Olivopontocerebellar atrophy Internal medicine Genetics medicine Humans Genetics (clinical) business.industry Infant Newborn Transferrin Hypertrophic cardiomyopathy Cardiomyopathy Hypertrophic medicine.disease Hypotonia Fetal Diseases Endocrinology Failure to thrive medicine.symptom business Nephrotic syndrome Chromosomes Human Pair 16 |
| Zdroj: | Journal of Inherited Metabolic Disease. 19:257-259 |
| ISSN: | 1573-2665 0141-8955 |
| DOI: | 10.1007/bf01799444 |
| Popis: | Carbohydrate-deficient glycoprotein syndromes (CDGS) are a group of inherited metabolic diseases due to glycosylation defects of glycoproteins, mostly those of serum (Jaeken et al 1991). The most severe and multisystemic form presents neonatally. Major features are olivopontocerebellar atrophy, hypotonia, developmental delay, peripheral neuropathy, feeding difficulties, failure to thrive, lipodystrophy, dysmorphic features, esotropia and liver dysfunction. Additional manifestations include pericardial effusion, ascites, coagulation defects, severe infections, enlarged kidneys, stroke-like episodes and seizures. Rarely nephrotic syndrome or cardiomyopathy in the newborn period are described (Clayton et al 1992 ; Van der Knaap et al 1994). We report a patient with CDGS type I who presented with prenatal hypertrophic cardiomyopathy and pericardial effusion. |
| Databáze: | OpenAIRE |
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