Early-Infantile Galactosialidosis: Clinical and Radiological Findings

Galactosialidosis is a rare lysosomal storage disorder. Very few reports of the early-infantile (EIGS) form can be found in the literature. This form typically presents with prenatal non-immune fetal hydrops associated with various complex postnatal clinical findings. We discuss here a case of EIGS seen in our center due to prenatal diagnosis of non-immune hydrops with significant abdominal ascites. Postnatally, the patient was found to have persistent ascites, multiple congenital anomalies, cholestasis, and thrombocytopenia. Radiologic findings suggested osteochondrodysplasia, which in association with the other clinical findings indicated the possibility of a lysosomal storage disorder, such as early-infantile galactosialidosis. We review and discuss here the clinical and radiographic findings in EIGS as described in the literature and compare them to our case study. The information presented should raise awareness of the unusual presentation of early-infantile galactosialidosis and aid neonatologists in the early recognition of this rare and devastating disorder.