MONGOLIAN SPOTS AND GANGLIOSIDOSIS GM1 DISEASE, A CASE REPORT AND LITERATURE REVIEW

Nourbakhsh, M.K. and Hashemi Dehkordi, E. and Fekri, K. and Nekoee, A. and Emadi, A. (2015) MONGOLIAN SPOTS AND GANGLIOSIDOSIS GM1 DISEASE, A CASE REPORT AND LITERATURE REVIEW. ijdld, 14 (2).

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Abstract

Gangliosidosis GM1, is a lipid storage disorder due to deficiency of the lysosomal enzyme &beta-galactosidase. This deficiency leads to lysosomal accumulation of gangliosidosis GM1 to be, which contributes to swelling, cell damage and dysfunction of the organs. Gangliosidosis GM1a rare neurodegenerative disorder. Mongolian spots are significant clinical sign in some of the metabolic diseases, such as gangliosidosis GM1, but limited information is available. Hepatomegaly, hypotonia, edema, seizures, and skeletal malformations and Cherry red spot in the macula of the eye are of other symptoms of the disease. In this paper, we present a 10-month-old child with gangliosidosis GM1 type 1 with extensive mongolian spots who was referred the Hajar Medical Educational Therapeutic Center Shahrekord.

Item Type: Article
Uncontrolled Keywords: Mongolian spots, Gangliosidosis GM1, Lipid storage disorder, Metabolic diseases
Subjects: WD Nutrition Disease and metabolic diseases
QU Biochemistry
Divisions: Faculty of Medicine > Department of Clinical Sciences > Department of Pediatrics
Depositing User: Users 1 not found.
Date Deposited: 04 Nov 2017 07:40
Last Modified: 04 Nov 2017 07:40
URI: http://eprints.skums.ac.ir/id/eprint/6221

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