Extensive Mongolian spots: a clinical sign merits special attention for gm1-Gangliosidosis
Keywords:
GM1 gangliosidosis, Ecchymoses, Mongolian spots
Abstract
GM1-gangliosidosis (GM1) is one of the metabolic storage diseases, of which a differential diagnosis requires an array of biochemical assays to determine the enzyme deficiency. This approach is not only time-consuming and costly but also unavailable to most hospital laboratories. However, a presumptive diagnosis of GM1 may be made on the basis of diffuse ecchymosis, ectopic Mongolian spots and coarse facial feature, if present. A more definitive diagnosis of GM1 is then made on the demonstration of deficiency of GM1 beta-galactosidase in leukocytes, plasma or cultured skin fibroblasts. We postulate that dermal pigmentation may be recognized as an early sign of GM1 gangliosidosis.
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References
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19. 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 June; 148(6):1173–8. [PubMed]
2. Carl Hayward, Hitesh C. Patel, Sanjay G. Manohar, Alexander R. Lyon. Gene therapy for GM1 gangliosidosis: challenges of translational medicine. Ann Transl Med. 2015 May; 3(Suppl 1): S28. [PubMed]
3. Shield JP, Stone J, Steward CG. Bone marrow transplantation correcting beta-galactosidase activity does not influence neurological outcome in juvenile GM1-gangliosidosis. J Inherit Metab Dis. 2005; 28(5):797-8.
4. Kasperzyk JL, El-Abbadi MM, Hauser EC, et al. N-butyldeoxygalactonojirimycin reduces neonatal brain ganglioside content in a mouse model of GM1 gangliosidosis. J Neurochem. 2004 May; 89(3):645-53. [PubMed]
5. Kasperzyk JL, d'Azzo A, Platt FM, et al. Substrate reduction reduces gangliosides in postnatal cerebrumbrainstem and cerebellum in GM1 gangliosidosis mice. J Lipid Res. 2005 Apr; 46(4):744-51. [PubMed]
6. Matsuda J, Suzuki O, Oshima A, et al. Chemical chaperone therapy for brain pathology in GM1-gangliosidosis. Proc Natl Acad Sci U S A. 2003 Dec;100(26):15912-7. [PubMed]
7. Suzuki Y, Ichinomiya S, Kurosawa M, et al. Chemical chaperone therapy: clinical effect in murine GM1- gangliosidosis. Ann Neurol. 2007 Dec; 62(6):671-5. [PubMed]
8. Landing BH, Silverman FN, Craig GM, Jacoby MD, Lahey ME, Chadwick DL. Familial neurovisceral lipidosis. Am J Dis Child. 1964 Nov;108:503–22. [PubMed]
9. Hooft C, Senesael L, Delbeke MJ, Kint J, Dacremont G. The Gm1 gangliosidosis (Landing disease). Eur Neurol. 1969; 2(4):225–41. [PubMed]
10. Ginsburg CM, Long CG. GM1 gangliosidosis type 1 in twins. J Med Genet. 1977 Apr;14(2):132–4. [PubMed]
11. Beratis N, Varvarigou-Frimas A, Beratis S, Sklower S. Angiokeratoma corporis diffusum in GM1 gangliosidosis, type 1. Clin Genet. 1989 Jul; 36(1):59–64. [PubMed]
12. 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 Feb;104(2):195–200. [PubMed]
13. Selsor LC, Lesher JL., Jr Hyperpigmented macules and patches in a patient with GM1 type 1 gangliosidosis. J Am Acad Dermatol. 1989 May;20(5 Pt 2):878–82. [PubMed]
14. Beattie RM, Harvey D. Extensive and unusual Mongolian blue spots in a child with GM1 gangliosidosis type one. J R Soc Med. 1992 Sep; 85(9):574–5. [PubMed]
15. 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 Dec; 73(6):412–5. [PubMed]
16. Silengo M, Battistoni G, Spada M. Is there a relationship between extensive Mongolian spots and inborn error of metabolism? Am J Med genet. 1999 Nov; 87(3):276–7. [PubMed]
17. Ashrafi MR, Shabanian R, Mohammadi M, Kavusi S. Extensive Mongolian spots: a clinical sign merits special attention. Pediatr Neurol. 2006 Feb; 34(2):143–5. [PubMed]
18. Hanson M, Lupski JR, Hicks J, Metry D. Association of dermal melanocytosis with Lysosomal storage disease. Arch Dermatol. 2003 July; 139(7):916–20. [PubMed]
19. 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 June; 148(6):1173–8. [PubMed]
CITATION
DOI: 10.17511/ijpr.2016.i07.03
Published: 2016-07-31
How to Cite
Dr Rajesh kumar, Dr Ashok Gupta, Dr Priyanshu Mathur, Dr Manish Sharma, & Dr Manisha Garg. (2016). Extensive Mongolian spots: a clinical sign merits special attention for gm1-Gangliosidosis. Pediatric Review: International Journal of Pediatric Research, 3(7), 482-485. https://doi.org/10.17511/ijpr.2016.i07.03
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Case Report
Copyright (c) 2016 Author (s). Published by Siddharth Health Research and Social Welfare Society
This work is licensed under a Creative Commons Attribution 4.0 International License.
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