Galactosialidosis presenting as non-immune hydrops in a newborn: A case report

Galactosialidosis is a rare autosomal recessive lysosomal storage disorder (LSD). It results from defects in glycoprotein degradation due to mutation single gene, encoded by the protective protein cathepsin A, (CTSA), located on chromosome 20q13.12. Most cases of non-immune hydrops fetalis (NIHF) nowadays being recognized are cardiac, lymphatic dysplasia, and hematological disorders. Inborn errors metabolism account for NIHF 1.3% patients. Among metabolic disorders, around 14 LSDs have been reported as associated with congenital ascites. In present case, we report an early infantile form galactosialidosis novel homozygous miss-sense c.319 A>C (p. Ser107 Arg) exon 3 CTSA gene newborn who presented hydrops. The baby also had coarse facies, wide anterior fontanelle, hypertelorism, bilateral talipes equinovarus, hepatosplenomegaly, nephrocalcinosis, disproportionately small limbs metaphyseal irregularity. Gradually, he developed worsening cardiac functions cardiomyopathy succumbed death day 47 life. Being disorder, it can recur next pregnancy treatment mainly supportive. Targeted prenatal diagnostics subsequent pregnancies help diagnosis.