Renal Involvement as a Rare Complication of Dorfman–Chanarin Syndrome: A Case Report
Article first published online: 9 JUN 2008
© 2008 The Authors. Journal compilation © 2008 Blackwell Publishing, Inc.
Volume 25, Issue 3, pages 326–331, May/June 2008
How to Cite
Aksu, G., Kalkan Ucar, S., Bulut, Y., Aydinok, Y., Sen, S., Anal, O., Simsek Gosen, D., Darcan, S., Coker, M. and Kutukculer, N. (2008), Renal Involvement as a Rare Complication of Dorfman–Chanarin Syndrome: A Case Report. Pediatric Dermatology, 25: 326–331. doi: 10.1111/j.1525-1470.2008.00675.x
- Issue published online: 9 JUN 2008
- Article first published online: 9 JUN 2008
Abstract: Dorfman-Chanarin syndrome is a rare, autosomal recessive inherited lipid storage disease with congenital ichthyotic erythroderma due to an acylglycerol recycling defect. It is characterized by accumulation of neutral lipids in different tissues. Liver, muscle, ear, eye, and central nervous system are generally involved, so we presented a patient with severe ichthyosis, lipid vacuoles in neutrophils, and multiorgan involvement including a very rare complication, renal involvement. A 7-month-old girl was presented with frequent respiratory infection, congenital ichthyotic erithroderma and suspicion for immune deficiency. On her physical examination hepatomegaly, developmental delay, palmar and plantar hyperkeratosis and increased deep tendon reflexes with clonus and high tonus were found. Laboratory investigations revealed elevation at transaminases levels, hypoalbuminemia, hypergammaglobulinemia, presence of autoantibodies and eosinophilia. Vacuolization in leukocytes confirmed Dorfman-Chanarin syndrome, whereas no mutation at RAG1-2 and ARTEMIS genes ruled-out immune deficient status of the patient. At the age of eight months the patient died from severe renal failure. Her necropsies demonstrated microvesicular lipid accumulation not only at the liver but also at the renal species. The variability of involvement of different systems in Dorfman-Chanarin syndrome is well described, however the renal findings has not been reported previously at the literature.