title: Renal involvement as a rare complication of Dorfman-Chanarin syndrome: a case report.
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.
authors.affiliation: Ege University Medical Faculty, Department of Pediatrics, Bornova, 35100 Izmir, Turkey.
authors.forename: G
authors.initials: G
authors.lastname: Aksu
authors.forename: S
authors.initials: S
authors.lastname: Kalkan Ucar
authors.forename: Y
authors.initials: Y
authors.lastname: Bulut
authors.forename: Y
authors.initials: Y
authors.lastname: Aydinok
authors.forename: S
authors.initials: S
authors.lastname: Sen
authors.forename: O
authors.initials: O
authors.lastname: Anal
authors.forename: D
authors.initials: D
authors.lastname: Simsek Gosen
authors.forename: S
authors.initials: S
authors.lastname: Darcan
authors.forename: M
authors.initials: M
authors.lastname: Coker
authors.forename: N
authors.initials: N
authors.lastname: Kutukculer
mesh_terms: D004252:DNA Mutational Analysis; D002658:Developmental Disabilities; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005234:Fatty Liver / Q000209:etiology / Q000473:pathology; D005260:Female; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000150:complications* / Q000473:pathology; D007223:Infant; D007962:Leukocytes / Q000473:pathology; D008064:Lipidoses / Q000097:blood / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D009422:Nervous System Diseases; D051437:Renal Insufficiency / Q000209:etiology* / Q000473:pathology; D013577:Syndrome; D014617:Vacuoles / Q000473:pathology