Ghoshal Bhaswati, Sarkar Nirmalya, Bhattacharjee Mala, Bhattacharjee Rabindra
Department of Pediatrics and Cardiology, Calcutta National Medical College, Kolkata, India.
Indian Pediatr. 2012 Mar;49(3):235-6. doi: 10.1007/s13312-012-0048-y.
A 3 and half years old male child born by consanguineous marriage presented with white forelock and symmetric hypopigmented areas present since birth, similar to his mother and elder sister. Hepatomegaly was noticed at one year of age. Liver biopsy revealed enlarged pale hepatocytes distended with glycogen. Skin biopsy revealed absence of melanin pigment in white depigmented skin. G727T gene splice mutation was diagnosed in exon 5 of 17q21 chromosome.
一名3岁半的男性儿童，通过近亲结婚出生，自出生以来就有白色额发和对称的色素减退区域，与他的母亲和姐姐相似。1岁时发现肝肿大。肝脏活检显示肝肿大，苍白的肝细胞充满糖原。皮肤活检显示白色色素减退皮肤中缺乏黑色素。在17q21染色体的第5外显子中诊断出G727T基因剪接突变。
