galactosialidosis

Definition: Autosomal recessive metabolic disease.

Synopis

 non-immune hydrops fetalis

• edematous genitalia
• fetal ascites

 developmental reatrdation
 hepatomegaly
 splenomegaly
 dwarfism
 coarse facies
 abondant eyebrows
 almoste complete absence of subcutaneous tissue
 hirsutism
 conjunctival telangiectases
 angiokeratomas (scrotum)
 corneal clouding
 macular cherry red spot
 hearing loss
 mental retardation
 seizures
 dysostosis multiplex
 usually no organomegaly
 occasionally hepatosplenomegaly
 vacuolated Kupffer cells
 widespread hemangiomas
 mitral valvular disease
 aortic valvular disease

Pathology

 EM of skin biopsy and peripheral blood lymphocytes shows membrane-bound fibrillogranular inclusions

Laboratory

 Elevated urine sialyloligosaccharides but no free sialic acid
Neuraminidase deficiency
 Beta-galactosidase deficiency
 Decreased carboxypeptidase-L/protective protein activity

Types

 early-infantile form of galactosialidosis
 late-infantile form of galactosialidosis
 adult type of galactosialidosis