Extensive Mongolian spots: a clinical sign merits special attention for gm1-Gangliosidosis
Journal Title: Pediatric Review: International Journal of Pediatric Research - Year 2016, Vol 3, Issue 7
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.
Authors and Affiliations
Rajesh kumar, Ashok Gupta, Priyanshu Mathur, Manish Sharma
Keywords
Related Articles
- EP ID EP225883
- DOI 10.17511
- Views 154
- Downloads 0
Effect of Birth Weight, Gestational Age, Sex and Intrauterine Growth on Mortality and Morbidity Profile of very Low Birth Weight Babies(VLBW)
Introduction: Very Low birth weight is associated with serious neonatal morbidity. Biologic factors are major determinants in their outcome. We analysed the effect of birth-weight, gestation, sex and intrauterine growth...
Nutritional assessment of children infected with HIV on Pre-ART & on ART
Introduction: PEM is one of the commonest manifestations of HIV in India. Malnutrition has a major impact on the outcome of HIV as it not only increases mortality but also results in an impaired response to ART. Nutriti...
Physical activity, sedentary behaviours and eating habits among school children in kerala
Background: World Health Organization refers obesity as a global epidemic including children and adults. Low levels of physical activity, TV watching, and unhealthy food habits are risk factors for overweight and obesity...
High flow nasal cannula vs non-invasive ventilation in pediatric ARDS: an RCT
Introduction: Pediatric Acute Respiratory Distress syndrome (PARDS) has been re-defined (2015) as per the final recommendations of the Pediatric Acute Lung Injury Consensus Conference. The use of high flow nasal cannula...
Anthropometric profiles of children with congenital heart disease
Background: Congenital heart disease (CHD) is often associated with malnutrition and failure to thrive in children. Children with congenital heart diseases are frequently undernourished irrespective of cardiac defect and...