Chanarin-Dorfman syndrome: a case report and review of the literature
Arab Journal of Gastroenterology. 2015; 16 (3-4): 142-144
Dans Anglais
| IMEMR
| ID: emr-174971
ABSTRACT
Chanarin-Dorfman syndrome, a "neutral lipid storage disease with ichthyosis," is a multisystem inherited metabolic disorder associated with congenital ichthyosis and accumulation of lipid droplets in various types of cells. Case report A 3-year-old male presented to the Pediatric Hepatology Unit, Cairo University Children's Hospital, Cairo, Egypt, with accidentally discovered hepatomegaly. He had generalised ichthyosis with dark skin pigmentation and bilateral ectropion. Abdominal examination revealed generalised abdominal distention with firm nontender hepatomegaly. His liver functions were deranged. Blood film showed many vacuolated neutrophils. Serum triglyceride and creatine kinase levels were elevated. Abdominal ultrasound showed a moderately enlarged liver with a bright echo pattern. Liver biopsy revealed marked diffuse macrovesicular fatty changes. The diagnosis of Chanarin-Dorfman Syndrome was made based on the dermatological, haematological, and liver biopsy findings:
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Indice:
Méditerranée orientale
Sujet Principal:
Littérature de revue comme sujet
/
Érythrodermie ichtyosiforme congénitale
/
Maladies musculaires
Type d'étude:
Enquête cas-témoins / Études cas/témoins
Limites du sujet:
Enfant d'âge préscolaire
/
Humains
/
Mâle
langue:
Anglais
Texte intégral:
Arab J. Gastroenterol.
Année:
2015
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