Neutral lipid storage disease-a case report
Keywords:
Neutral lipid storage disease, non-bullous ichthyosiform erythroderma, Jordan’s anomalyAbstract
Neutral lipid storage disease is a rare autosomal recessive disorder characterized by non-bullous ichthyosiform erythroderma, liver steatosis, hepatosplenomegaly, cataracts, ataxia, bilateral sensorineural hearing loss, skeletal and cardiomyopathy, growth and mental retardation. We report a case of neutral lipid storage disease in a 14 months old child.References
Igal RA, Coleman RA. Neutral lipid storage disease: a genetic disorder with abnormalities in the regulation of phospholipid metabolism. J Lipid Res. 1998;39:31-43.
Schweiger M, Lass A, Zimmermann R et al. Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5. Am J Physiol Endocrinol Metab. 2009;29:289-96.
Akiyama M, Sawamura D, Nomura Y et al. Truncation of CG1-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome. J Invest Dermatol. 2003;121:1029-34.
Rozenszajn L, Klajman A, Yaffe D, Efrati P. Jordan’s anomaly in white blood cells: Report of case. Blood. 1966; 28: 258-265.
Selimoglu MA, Esrefoglu M, Gul M et al. Chanarin Dorfman Syndrome: Clinical features of a rare lipid metabolism disorder. Pediatr Dermatol. 2009;26:40-3.
Pena-Penabad C, Almagro M, Maritinez W et al. Dorfman-Chanarin Syndrome (neutral lipid storage disease): new clinical features. Br J Dermatol. 2001;144:445-8.
Jordans GH. The familial occurrence of fat containing vacuoles in the leukocytes diagnosed in two brothers suffering from dystrophia musculurum progressive. Acta Med Scand. 1953;146:419-26.
Elias PM, Williams ML. Neutral lipid storage disease with ichthyosis: defective lamellar body contents and intracellular dispersion. Arch Dermatol. 1985;121:1000-8.
Chanarin I, Patel A, Slavin G et al. Neutral lipid storage disease: A new disorder of lipid metabolism. Br Med J 1975;1:553-5.
Pujol RM, Gilaberte M, Toll A et al. Erythrokeratoderma variabilis-like ichthyosis in Chanarin-Dorfman Syndrome. Br J Dermatol. 2005;153:838-41.