Infantile Galactosialidosis with Novel Mutation: An Early Presentation

Area of Science:

• Genetics
• Biochemistry
• Pediatrics

Background:

• Galactosialidosis (GS) is a rare, inherited lysosomal storage disorder.
• GS results from defects in the lysosomal enzyme beta-galactosidase and its activator protein beta-galactosidase.
• Early diagnosis is crucial for managing symptoms and potential complications.

Purpose of the Study:

• To report a case of neonatal Galactosialidosis.
• To highlight the diagnostic challenges and the utility of genetic testing in identifying novel mutations.

Main Methods:

• Clinical case presentation of a neonate with severe symptoms.
• Review of antenatal and postnatal clinical findings.
• Genetic testing to identify the underlying mutation.

Main Results:

• The patient presented with increased body swelling, respiratory distress, and petechiae at birth.
• Clinical findings included coarse facies, hepatosplenomegaly, ascites, thrombocytopenia, nephrotic range proteinuria, and bilateral hydronephrosis.
• Genetic analysis revealed a novel homozygous c.1158dupA mutation, confirming the diagnosis of Galactosialidosis.

Conclusions:

• This case underscores the importance of considering rare genetic disorders like Galactosialidosis in neonates with complex symptoms.
• Identification of a novel mutation expands the known genetic landscape of GS.
• Genetic testing is essential for definitive diagnosis and potential future therapeutic strategies.