UNLABELLED: GM(1) gangliosidosis is a rare disorder characterized by deficiency of the ss-galactosidase enzyme, with the resulting accumulation of glycolipids, oligosaccharides and especially GM(1) ganglioside. It can be classified into three clinical types according to the time of onset: infantile, juvenile and adult form. We report a case of GM(1) gangliosidosis presenting with fetal hydrops at 24 wk of gestation. The parents were consanguineous; the baby, born at 35 wk of gestation, was dysmorphic and presented severe generalized oedema. The most common cause of fetal hydrops was excluded. A lysosomal storage disease was suspected, and GM(1) gangliosidosis was diagnosed. The child developed severe growth and mental retardation and died when she was 21 mo old. CONCLUSION: We suggest that the possible association between inborn errors of metabolism and antenatal ascites should be considered, in order to offer genetic counselling due to the high recurrence risk and the availability of early antenatal diagnosis.
UNLABELLED: GM(1) gangliosidosis is a rare disorder characterized by deficiency of the ss-galactosidase enzyme, with the resulting accumulation of glycolipids, oligosaccharides and especially GM(1) ganglioside. It can be classified into three clinical types according to the time of onset: infantile, juvenile and adult form. We report a case of GM(1) gangliosidosis presenting with fetal hydrops at 24 wk of gestation. The parents were consanguineous; the baby, born at 35 wk of gestation, was dysmorphic and presented severe generalized oedema. The most common cause of fetal hydrops was excluded. A lysosomal storage disease was suspected, and GM(1) gangliosidosis was diagnosed. The child developed severe growth and mental retardation and died when she was 21 mo old. CONCLUSION: We suggest that the possible association between inborn errors of metabolism and antenatal ascites should be considered, in order to offer genetic counselling due to the high recurrence risk and the availability of early antenatal diagnosis.