Neutral lipid storage disease-a case report

Authors

  • Ghazala Butt
  • Asia Bano
  • Sabrina Suhail Pal
  • Khawar Khurshid
  • Faria Asad
  • Zahida Rani

Keywords:

Neutral lipid storage disease, non-bullous ichthyosiform erythroderma, Jordan’s anomaly

Abstract

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.

Downloads

Published

2016-12-02

How to Cite

1.
Butt G, Bano A, Pal SS, Khurshid K, Asad F, Rani Z. Neutral lipid storage disease-a case report. J Pak Assoc Dermatol [Internet]. 2016Dec.2 [cited 2024Nov.3];24(2):176-9. Available from: https://www.jpad.com.pk/index.php/jpad/article/view/245

Issue

Section

Case Reports

Most read articles by the same author(s)

1 2 3 4 5 6 7 8 9 10 > >>