FN Al-Qahtani, AA Salloum, Chanarin-Dorfman Syndrome: A Case Report. 2002; 22(5-6): [354][355] Chanarin-Dorfman syndrome (CDS) is a rare, autosomal recessive inherited lipid storage disease with skin manifestation in the form of congenital ichthyotic erythroderma.1 Demonstration of lipid vacuoles in neutrophils from peripheral blood smear in a patient with ichthyotic erythroderma leads to a correct diagnosis.2 Other organ systems such as CNS, liver, muscles, ears and eyes are frequently involved. We report a case of Chanarin-Dorfman syndrome which was picked up when a patient presented with nephrotic syndrome, which was an unusual presentation of DCS. To the best of our knowledge, this is the first case to be reported from Saudi Arabia. Case ReportA five-year-old Saudi girl, a known case of congenital ichthyosiform erythroderma (CIE), and a product of firstdegree cousins presented with progressive generalized body puffiness over a three-day period, and which was preceded by flu-like illness. She had a brother who was similarly affected. On physical examination, her BP was 148/82 mm Hg, torr >95th percentile. For age and sex, her weight was 16.9 kg (>10th percentile), and height was 96 cm(<5th percentile. There was generalized erythroderma with fine desquamating scales without flexural sparing, and facial tautness, periorbital edema with mild ectropion. The chest was clear to percussion and auscultation. CVS examination showed normal heart sounds with no murmur. The abdomen was distended with ascites and huge hepatomegaly (11 cm span), with normal intellectual, neurological, and ophthalmic examinations, and with no hearing abnormality. Note generalized scaling with mild erythroderma.