Affiliations: 1st Department of Pediatrics, Aristotle University of
Thessaloniki, Thessaloniki, Greece | Department of Enzymology and Cellular Function,
Institute of Child Health, Athens, Greece
Note: [] Corresponding author: Dr. Dimitrios Zafeiriou, 1st Department of
Pediatrics, Aristotle University of Thessaloniki, Thessaloniki, Greece. E-mail:
jeff@med.auth.gr
Abstract: Galactosialidosis is a rare, recessively inherited lysosomal storage
disease, characterized by the combined deficiency of β-D-galactosidase and
N-acetyl-α-neuraminidase, due to the genetic alteration of the protective
protein/cathepsin A. Its clinical expression varies depending on the age of
onset. We report the clinical and biochemical findings of a 15-year-old male
who was firstly admitted at the age of 5.5 yr, due to heavy proteinuria, which
was followed by progressive renal failure and transplantation at 6.5 yr of age.
The diagnosis of galactosialidosis was established by the demonstration of a
combined deficiency of neuraminidase β-galactosidase as well as of
deficient cathepsin A activity. The renal function started to deteriorate again
at the age of 11 yr, when he manifested elements of renal allograft
nephropathy. Pyramidal tract dysfunction and generalized tonic-clonic epileptic
seizures were added to his clinical picture at that age, whereas his range of
movements was clearly compromised due to dysostosis multiplex. A subsequent
magnetic resonance imaging demonstrated mild dilatation of the lateral
ventricles and cerebral atrophy, as well as hippocampal sclerosis, which may be
considered an additional feature of the disease. To the best of our knowledge,
this is the first reported patient with galactosialidosis among Greeks.
