Mongolian spots in a sick patient-A diagnosis of infantile GM1 gangliosidosis

Kelvin Truong^{1

2}, Gloria Fong^{1

2}, Katherine Lewis³, Ali Moghimi⁴, Archana Prasad⁵, Peter Hogan^{1

2}

Affiliations

¹ Department of Dermatology, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.
² Sydney Medical School, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia.
³ Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.
⁴ Department of Histopathology, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.
⁵ Department of Medicine, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.

Kelvin Truong et al. Australas J Dermatol. 2023 Nov.

. 2023 Nov;64(4):553-556.

doi: 10.1111/ajd.14146. Epub 2023 Aug 25.

Kelvin Truong^{1

2}, Gloria Fong^{1

2}, Katherine Lewis³, Ali Moghimi⁴, Archana Prasad⁵, Peter Hogan^{1

2}

¹ Department of Dermatology, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.
² Sydney Medical School, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia.
³ Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.
⁴ Department of Histopathology, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.
⁵ Department of Medicine, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.

No abstract available

References

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1. Sinigerska I, Chandler D, Vaghjiani V, Hassanova I, Gooding R, Morrone A, et al. Founder mutation causing infantile GM1-gangliosidosis in the gypsy population. Mol Genet Metab. 2006;88(1):93-95. https://doi.org/10.1016/j.ymgme.2005.12.009
1. Rha AK, Maguire AS, Martin DR. GM1 Gangliosidosis: mechanisms and management. The Application of Clinical Genetics. 2021;14:209-233. https://doi.org/10.2147/TACG.S206076
1. Jarnes Utz JR, Kim S, King K, Ziegler R, Schema L, Redtree ES, et al. Infantile gangliosidoses: mapping a timeline of clinical changes. Mol Genet Metab. 2017;121(2):170-179. https://doi.org/10.1016/j.ymgme.2017.04.011
1. Hanson M, Lupski JR, Hicks J, Metry D. Association of dermal melanocytosis with lysosomal storage disease: clinical features and hypotheses regarding pathogenesis. Arch Dermatol. 2003;139(7):916-920. https://doi.org/10.1001/archderm.139.7.916