Dorfman-Chanarin syndrome (neutral lipid storage disease): new clinical features

Peña-Penabad, Carmen; Almagro, Manuel; Martínez, Walter; García-Silva, J.; Pozo, J Del; Yebra, Miguel; Sánchez‐Manzano, C.; Fonseca, Eduardo

doi:10.1046/j.1365-2133.2001.04051.x

Cited by 58 publications

(68 citation statements)

References 16 publications

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“…The most frequent ocular presentation is cataract, which occurs in 42 % of cases [12]. Other oculer manifestations are; strabismus, nystagmus, myopia, retinal dysfunction, mild ectropion (as a result of facial involvement by ichthyosis) [11,12]. In our case, eye involvement was characterized by findings of nystagmus, strabismus and cataract.…”

Section: Discussionmentioning

confidence: 85%

“…Extracutaneous manifestations including fatty liver, myopathy, cataract, neurosensory hearing loss and neurologic symptoms show clinical variability [3,10]. It has been reported that, the most frequently affected organ is the liver (64 % of cases) [12]. Hepatic steatosis with steatohepatitis can progress to cirrhosis rapidly [5].…”

Section: Discussionmentioning

confidence: 99%

“…In the present case, although electromyelography showed no pathology, he had muscle pain and increased serum muscle enzymes. The most frequent ocular presentation is cataract, which occurs in 42 % of cases [12]. Other oculer manifestations are; strabismus, nystagmus, myopia, retinal dysfunction, mild ectropion (as a result of facial involvement by ichthyosis) [11,12].…”

Section: Discussionmentioning

confidence: 99%

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A case with full clinical manifestations of Dorfman-Chanarin syndrome

et al. 2007

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AbstractDorfman-Chanarin syndrome (DCS), is a rare, autosomal recessive disorder associated with lipid metabolism. It is characterized by ichthyosiform nonbullous erythroderma, lipid vacuoles in peripheral leukocytes and variable involvement of organs. We report a Turkish man with the complete syndrome, who described family history of ichthyosis. To best of our knowledge this is the sixth case from Turkish origin to date. In addition to congenital ichthyosis he had also strabismus, horizantal nystagmus, bilateral neurosensory hearing loss, hepatomegaly and splenomegaly. Liver biopsy revealed hidrophic degeneration in hepatocytes, steatosis, enlargement and inflammation in portal areas and portal central fibrosis, consistent with cirrhosis. Write stained peripheral blood smear examination revealed lipid vacuoles in all of the neutrophils consistent with Jordan’s anomaly. We think that, it is essential to evaluate the peripheral blood smear of the patients with ichthyosis and also patients with DCS should be informed and warned about the results of consanquinous marriage.

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Section: Discussionmentioning

confidence: 85%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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A case with full clinical manifestations of Dorfman-Chanarin syndrome

et al. 2007

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“…It is characterized by non-bullous congenital ichthyosiform erythroderma, leukocyte vacuoles and variable, but often mild involvement of other organs, such as the liver, muscle and CNS, but not the kidney. [6][7][8] CDS is a neutral lipid intracellular and non-lysosomal storage disorder which probably results from defective fatty acid catabolism. This metabolic defect causes the appearance of non-membrane enclosed intra-cytoplasmic vacuoles.…”

Section: Discussionmentioning

confidence: 99%

“…The majority of cases reported to date (33 in the literature) are from the Middle East. 6 CDS is a rare, autosomal recessive inherited lipidstorage disease. It is characterized by non-bullous congenital ichthyosiform erythroderma, leukocyte vacuoles and variable, but often mild involvement of other organs, such as the liver, muscle and CNS, but not the kidney.…”

Section: Discussionmentioning

confidence: 99%

Chanarin-Dorfman Syndrome: A Case Report

Al-Qahtani

Salloum

2002

Ann Saudi Med

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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.

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