Mucopolysaccharidosis type VII as a cause of recurrent non-immune hydrops fetalis
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Y. Cheng
Abstract
Background: Mucopolysaccharidosis type VII (MPS VII) is a rare lysosomal storage disease first described by Sly in 1973. There are fewer than thirty reported cases world wide. This extremely rare disorder can present in-utero as hydrops fetalis and has a high recurrence rate. However, prenatal diagnosis in the absence of a previously affected child, has not been reported to date.
Case: This is a case of a non-consanguineous couple, with no history of a previously affected child with MPS VII, presenting with recurrent hydrops fetalis. During the work-up, the affected fetus was diagnosed in-utero with β-glucuronidase deficiency which is pathognomonic for MPS VII. Prenatal diagnosis was then performed in subsequent pregnancies.
Conclusion: The importance of an extensive and thorough investigation for the etiology of hydrops fetalis is discussed.
Copyright © 2003 by Walter de Gruyter GmbH & Co. KG
Artikel in diesem Heft
- Author Index
- Subject Index
- Contents
- MRI during pregnancy
- Magnetic resonance imaging and ultrasound in the assessment of the fetal central nervous system
- Maternal erythrocyte malondialdehyde level in preeclampsia prediction: a longitudinal study
- Effect of fetal macrosomia on human placental glucose transport and utilization in insulin-treated gestational diabetes
- Association between maternal-fetal Doppler velocimetry and fetal lung maturity
- Does the thrifty phenotype result from chronic glutamate intoxication? A hypothesis
- Fetal hand movements and facial expression in normal pregnancy studied by four-dimensional sonography
- Stable microbubble test and click test to predict respiratory distress syndrome in preterm infants not requiring ventilation at birth
- Staphylococcal scalded skin syndrome in two very low birth weight infants
- Umbilical glutathione levels are higher after vaginal birth than after cesarean section
- Gastrointestinal contrast studies in high-risk neonates with suspected necrotising enterocolitis – a note of caution
- Fatal intracranial hemorrhage in a pregnant patient with autoimmune thrombocytopenic purpura
- Pregnancy complicated with pure red cell aplasia: a case report
- Mucopolysaccharidosis type VII as a cause of recurrent non-immune hydrops fetalis
- Higher risk of persistent pulmonary hypertension of the newborn after cesarean
- Congress Calendar
Artikel in diesem Heft
- Author Index
- Subject Index
- Contents
- MRI during pregnancy
- Magnetic resonance imaging and ultrasound in the assessment of the fetal central nervous system
- Maternal erythrocyte malondialdehyde level in preeclampsia prediction: a longitudinal study
- Effect of fetal macrosomia on human placental glucose transport and utilization in insulin-treated gestational diabetes
- Association between maternal-fetal Doppler velocimetry and fetal lung maturity
- Does the thrifty phenotype result from chronic glutamate intoxication? A hypothesis
- Fetal hand movements and facial expression in normal pregnancy studied by four-dimensional sonography
- Stable microbubble test and click test to predict respiratory distress syndrome in preterm infants not requiring ventilation at birth
- Staphylococcal scalded skin syndrome in two very low birth weight infants
- Umbilical glutathione levels are higher after vaginal birth than after cesarean section
- Gastrointestinal contrast studies in high-risk neonates with suspected necrotising enterocolitis – a note of caution
- Fatal intracranial hemorrhage in a pregnant patient with autoimmune thrombocytopenic purpura
- Pregnancy complicated with pure red cell aplasia: a case report
- Mucopolysaccharidosis type VII as a cause of recurrent non-immune hydrops fetalis
- Higher risk of persistent pulmonary hypertension of the newborn after cesarean
- Congress Calendar
