Large Mongolian spots in GM1 gangliosidosis


  • Shikha Khandelwal Department of Pediatrics, S.M.S. Medical College, Jaipur, Rajasthan, India



Mongolian blue spots, GM1 gangliosidosis


A 9-month old male child with GM1 gangliosidosis type 1 presented with Mongolian spots. The cutaneous lesions were present since birth before the appearance of the other features of the disease. Our patient, whose clinical course and physical signs were in keeping with GM1 gangliosidosis, had extensive Mongolian blue spots and this adds to the evidence supporting such an association.


Landing BH, Silverman FN, Craig GM, Jacoby MD, Lahey ME, Chadwick DL. Familial neurovisceral lipidosis. Am J Dis Child. 1964;108:503-22.

Hooft C, Senesael L, Delbeke MJ, Kint J, Dacremont G. The GM1 gangliosidosis (Landing disease). Eur Neurol. 1969;2:225-41.

Ginsburg CM, Long CG. GM1 gangliosidosis type 1 in twins. J Med Genet. 1977;14:132-4.

Beratis N, Varvarigou-Frimas A, Beratis S, Sklower S. Angiokeratoma corporis diffusum in GM1 gangliosidosis, type 1. Clin Genet. 1989;36:59-64.

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.

Selsor LC, Lesher JL Jr. Hyperpigmented macules and patches in a patient with GM1 type 1 gangliosidosis. J Am Acad Dermatol. 1989;20:878-82.

Beattie RM, Harvey D. Extensive and unusual Mongolian blue spots in a child with GM 1gangliosidosis type one. J R Soc Med. 1992;85:574-5.

Tang TT, Esterly NB, Lubinsky MS, Oechler HW, Harb JM, Franciosi RA. GM1-gangliosidosis type 1 involving the cutaneous vascular endothelial cells in a black infant with multiple ectopic Mongolian spots. Acta Derm Venereol. 1993;73:412-5.

Silengo M, Battistoni G, Spada M. Is there a relationship between extensive Mongolian spots and inborn error of metabolism? Am J Med Genet. 1999;87:276-7.

Ashrafi MR, Shabanian R, Mohammadi M, Kavusi S. Extensive Mongolian spots: a clinical sign merits special attention. Pediatr Neurol. 2006;34:143-5.

Hanson M, Lupski JR, Hicks J, Metry D. Association of dermal melanocytosis with lysosomal storage disease. Arch Dermatol. 2003;139:916-20.

Ochiai T, Ito K, Okada T, Chin M, Shichino H, Mugishima H. Significance of extensive Mongolian spots in Hunter's syndrome. Br J Dermatol. 2003;148:1173-8.