Glycogen storage disease 1a with Piebaldism

被引：4
作者：
Ghoshal, Bhaswati
Sarkar, Nirmalya
Bhattacharjee, Mala
Bhattacharjee, Rabindra
机构：
[1] Calcutta Natl Med Coll, Dept Pediat, Kolkata, India
[2] Calcutta Natl Med Coll, Dept Cardiol, Kolkata, India
来源：
INDIAN PEDIATRICS | 2012年 / 49卷 / 03期
关键词：
Child; Glycogen storage disease; India; Piebaldism; GENE;
D O I：
10.1007/s13312-012-0048-y
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
A 3 1/2 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. gene splice mutation was diagnosed in exon 5 of 17q21 chromosome.
引用
收藏
页码：235 / 236
页数：2
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