[GM1 gangliosidosis--case report].
Mo kle
Abstrè
BACKGROUND
Gangliosidoses occur due to inherited deficiency of human beta-galaktosidase, resulting in the accumulation of glicophyngolipides within the lisosomes. Clinical manifestations of lysosomal storage disorders are remarkably heterogeneous, they can apear at any age and each of them can vary from mild to severe conditions.
METHODS
We present a patient with an early, infintile type of GM, gangliosidosis. The facial features were coarse: hypertelorismus, wide nose, depressed nasal bridge with lingual protrusion. From the very first months of life she had severe generalized hypotonic, delayed development and hapatosplenomegaly. Before she died, when she was 13 months old, she had not had any spontaneus movements, she was deaf and blind, dispnoic, with apnoiccrises, with anemic face, but without seizures and decerebrate rigidity, which often accompanies the terminal stage of this illness.
CONCLUSIONS
The absence of beta-galaktosidase enzyme activity at the skin fibroblasts confirmed the definitive diagnosis. There has been no successful treatment so far, but increasingly better results of the gene therapy for other lysosomal storage disorders can make us optimistic.
