He had developed abdominal distention and hepatosplenomegaly at two months of age. On examination, the patient looked pale with grayish hair. The color of his skin was lighter than that of other family members. He had marked hepatosplenomegaly.
Melanocytes contain giant melanosomes.
The genetic defect at the molecular level remains unknown. Geographically, CHS has been reported to occur over a wide area with no racial predilection. It usually presents during the first decade, with a mean age at diagnosis of 5.85 years. 6 Most patients with CHS exhibit partial oculocutaneous albinism, which may be noticed only when compared with other family members. The hair color is usually light brown to blond, with a metallic silver-gray sheen noticeable in strong light.