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
相关论文
共 50 条
  • [1] Glycogen storage disease 1a with Piebaldism
    Bhaswati Ghoshal
    Nirmalya Sarkar
    Mala Bhattacharjee
    Rabindra Bhattacharjee
    Indian Pediatrics, 2012, 49 : 235 - 246
  • [2] Is glycogen storage disease 1a associated with atherosclerosis?
    Froukje L. Ubels
    Jan Peter Rake
    Joris P. J. Slaets
    G. Peter A. Smit
    Andries J. Smit
    European Journal of Pediatrics, 2002, 161 (1) : S62 - S64
  • [3] Radical trapping in glycogen storage disease 1a
    Birgit Wittenstein
    Marcus Klein
    Barbara Finckh
    Kurt Ullrich
    Alfried Kohlschütter
    European Journal of Pediatrics, 2002, 161 : S70 - S74
  • [4] Cerebrovascular disease in type 1A glycogen storage disease
    Berzsenyi, MD
    Brady, BMR
    O'Donnell, CJ
    Frayne, JH
    JOURNAL OF CLINICAL NEUROSCIENCE, 1998, 5 (01) : 93 - 94
  • [5] Radical trapping in glycogen storage disease 1a
    Wittenstein, B
    Klein, M
    Finckh, B
    Ullrich, K
    Kohlschütter, A
    EUROPEAN JOURNAL OF PEDIATRICS, 2002, 161 (Suppl 1) : S70 - S74
  • [6] LATE DIAGNOSIS OF GLYCOGEN STORAGE DISEASE 1A
    Maillot, F.
    Deest, G.
    Bacq, Y.
    Labarthe, F.
    Scotto, B.
    Couet, C.
    MOLECULAR GENETICS AND METABOLISM, 2009, 98 (1-2) : 41 - 42
  • [7] Is glycogen storage disease 1a associated with atherosclerosis?
    Ubels, FL
    Rake, JP
    Slaets, JPJ
    Smit, GPA
    Smit, AJ
    EUROPEAN JOURNAL OF PEDIATRICS, 2002, 161 (Suppl 1) : S62 - S64
  • [8] Is glycogen storage disease 1a associated with atherosclerosis?
    Froukje L. Ubels
    Jan Rake
    Joris P. Slaets
    Peter G. Smit
    Andries J. Smit
    European Journal of Pediatrics, 2002, 161 : S62 - S64
  • [9] Radical trapping in glycogen storage disease 1a
    Birgit Wittenstein
    Marcus Klein
    Barbara Finckh
    Kurt Ullrich
    Alfried Kohlschütter
    European Journal of Pediatrics, 2002, 161 (1) : S70 - S74
  • [10] Moyamoya disease in a child with glycogen storage disease type 1a
    Shin, Y-L
    Kim, Y. S.
    Park, Y.
    Yoo, H-W
    Lee, D. H.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2006, 29 : 125 - 125
12345