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 | + (2 cm) | + | + | + (2 cm) |
| Hepatosteatosis | + | + | + | + |
| Microcephaly | – | – | – | – |
| Intestinal involvement | – | – | – | – |