Author/Authors :
Nakhaei, Shahrbanoo Department of Pediatrics, Faculty of Medicine - Ali Asghar Children Hospital - Iran University of Medical Sciences (IUMS), Tehran, Iran , Heidary, Hamed Department of Pediatrics, Faculty of Medicine - Ali Asghar Children Hospital - Iran University of Medical Sciences (IUMS), Tehran, Iran , Rahimian, Aliasghar Department of Medical Biochemistry - Tehran University of Medical Sciences, Tehran, Iran , Vafadar, Mahdi Department of Pediatrics, Faculty of Medicine - Ali Asghar Children Hospital - Iran University of Medical Sciences (IUMS), Tehran, Iran , Roohani, Farzaneh Pediatric Growth and Development Research Center - Iran University of Medical Sciences, Tehran, Iran , Bahoosh, G.R Department of Pediatrics, Faculty of Medicine - Ali Asghar Children Hospital - Iran University of Medical Sciences (IUMS), Tehran, Iran , Amirkashani, Davoud Department of Pediatrics, Faculty of Medicine - Ali Asghar Children Hospital - Iran University of Medical Sciences (IUMS), Tehran, Iran
Abstract :
Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive metabolic disorder caused by mutations in gene
encoding the domain-5 of α/β-hydrolase enzyme (ABHD5). It is known as a natural lipid storage disorder arising
from impaired lipid metabolism often characterized by hepatomegaly, myopathy, ataxia, non-bullous
ichthyosiform erythroderma, hearing loss, and mental retardation. In the present study, we report two affected
28-month-old monozygotic twin boys as new cases of CDS. Genetic analysis was performed in patients, and the
results showed a homozygote deletion in exon 4 of ABHD5. According to the the American College of Medical
Genetics and Genomics, this variant is categorized as a pathogenic variant.
