Background: ChanarinDorfman syndrome is a rare autosomal recessively inherited neutral lipid disorder which is characterized by congenital ichthyosis and multiple system involvement. It is diagnosed by visualization of lipid vacuoles in neutrophiles (Jordon anomaly) in suspicious cases. This syndrome can be associated with type 2 diabetes.
Aim: We wished to remind this very rare disease in differential diagnosis of ichthyosis associating with diabetes mellitus.
Case: A 16-year-old girl was presented with polyuria and polydipsia for a month. She had a diagnosis of congenital ichthyosis since neonatal period. The parents were consanguineous and family history was negative for diabetes mellitus. Physical examination revealed generalized ichthyosis and hepatomegaly. On laboratory investigation, blood glucose was 600 mg/dl, blood ketone negative, C-peptide, and blood gases were in normal range and fasting triglyceride and aminotransferases were elevated. Liver biopsy revealed mild hepatic fibrosis and Moriac findings. Blood smear showed lipid vacuoles in neutrophiles.
Conclusion: ChanarinDorfman syndrome should be kept in mind in patients with congenital ichthyosis associated with diabetes mellitus due to insulin resistance or pancreatic involvement.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology