Cutaneous Manifestations of GM 1 Gangliosidosis Type One

Abstract

GM1 Gangliosidosis is a rare autosomal recessive disorder characterized by deficiency of lysosomal enzyme ganglioside β-galactosidase. We present a 9 month old male child with diffuse ecchymoses, mongolian spots with other clinical features and investigations suggestive of GM1 Gangliosidosis.

Keywords

• GM1 Gangliosidosis, ecchymoses, mongolian spots

References

1. Suzuki Y, Oshima A, Namba E. βGalactosidase deficiency (β-galactosidosis). GM1 gangliosidosis and Morquio B disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, et al., eds. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill, 2001: 3775–3809.
2. Brunetti-Pierri N, Scaglia F. GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects. Mol Genet Metab. 2008; 94:391-6.
3. Beattie RM, Harvey D. Extensive and unusual Mongolian blue spots in a child with GM 1 gangliosidosis type one. J R Soc Med 1992; 85:574-5.
4. Dweikat I, Libdeh BA, Murrar H, Khalil S, Maraqa N. Gm1 gangliosidosis associated with neonatal-onset of diffuse ecchymoses and mongolian spots. Indian J Dermatol. 2011; 56:98-100
5. Weissbluth M, Esterly NB, Caro WA. Report of an infant with GM1 gangliosidosis type I and extensive and unusual mongolian spots. Br J Dermatol 1981; 104: 195–200.
6. Ashrafi MR, Shabanian R, Mohammadi M, Kavusi S. Extensive Mongolian spots A clinical sign merits special attention Pediatr Neurol. 2006; 34:143-5.
7. Hanson M, Lupski JR, Hicks J, Metry D. Association of dermal melanocytosis with Lysosomal storage disease. Arch Dermatol 2003; 139:916-20.