Table 1 Clinical and laboratory features of patients with Chanarin-Dorfman syndrome
Clinical feature | Child | Father | Mother | Cousin |
|---|---|---|---|---|
Ichthyosis | + | + | + | + |
Leukocyte vacuoles | + | + | + | + |
Creatinine phosphokinase levels (U/L) | 1677 | 290 | 219 | 1145 |
Electromyographic examination | Myopathy | Normal | Normal | Myopathy |
Triglyceride level (mg/dL) | 460 | 115 | 74 | 74 |
Total cholesterol level (mg/dL) | 135 | 151 | 115 | 140 |
Cataracts | – | – | – | – |
Ectropion | + | + | + | – |
Lagophthalmos | + | – | – | – |
Strabism | – | – | – | – |
Myopia | – | + | – | – |
Hearing loss | – | – | – | – |
Mental retardation | – | – | – | – |
Hepatomegaly | + (2Â cm) | + | + | + (2Â cm) |
Hepatosteatosis | + | + | + | + |
Microcephaly | – | – | – | – |
Intestinal involvement | – | – | – | – |