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
  • [31] An infant presenting with extreme hypertriglyceridemia diagnosed as glycogen storage disease type Ia
    Fang, Ling-Juan
    Abuduxikuer, Kuerbanjiang
    Yan, Xiu-Mei
    Zhu, Huan
    Huang, Kai-Yu
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2020, 33 (06) : 803 - 808
  • [32] Association of glycogen storage disease 1b and Crohn disease: results of a North American survey
    Brian K. Dieckgraefe
    Joshua R. Korzenik
    Asif Husain
    Lisa Dieruf
    European Journal of Pediatrics, 2002, 161 (1) : S88 - S92
  • [33] Scintigraphic findings of multiple focal nodular hyperplasias in type 1 glycogen storage disease
    Suga, K
    Hara, A
    Ogasawara, N
    Matsunaga, N
    Kurokawa, F
    Okita, K
    CLINICAL NUCLEAR MEDICINE, 2002, 27 (11) : 834 - 836
  • [34] First report of glycogen storage disease type 111a in a Nigerian child
    Senbanjo, Idowu O.
    Lamina, Moriam O.
    Kumolu-Johnson, Tolulope
    El-Said, Hala
    El-Guindi, Mohamed Abdel Salam
    NIGERIAN POSTGRADUATE MEDICAL JOURNAL, 2019, 26 (02) : 138 - 141
  • [35] CHRONIC-PANCREATITIS IN A CHILD WITH GLYCOGEN-STORAGE-DISEASE TYPE-1
    KIKUCHI, M
    HASEGAWA, K
    HANDA, I
    WATABE, M
    NARISAWA, K
    TADA, K
    EUROPEAN JOURNAL OF PEDIATRICS, 1991, 150 (12) : 852 - 853
  • [36] Association of glycogen storage disease 1b and Crohn disease: results of a North American survey
    Dieckgraefe, BK
    Korzenik, JR
    Husain, A
    Dieruf, L
    EUROPEAN JOURNAL OF PEDIATRICS, 2002, 161 (Suppl 1) : S88 - S92
  • [37] HEMOSTATIC DEFECT IN GLYCOGEN STORAGE DISEASE TYPE I
    GILCHRIST, GS
    FINE, RN
    DONNELL, GN
    ACTA PAEDIATRICA SCANDINAVICA, 1968, 57 (03): : 205 - +
  • [38] Hepatocellular adenoma in type Ia glycogen storage disease
    Masatoshi Kudo
    Journal of Gastroenterology, 2001, 36 : 65 - 66
  • [39] Hepatocyte transplantation for glycogen storage disease type Ib
    Lee, Kwang-Woong
    Lee, Ji-Hyun
    Shin, Sung Wook
    Kim, Sung Joo
    Joh, Jae Won
    Lee, Doo-Hoon
    Kim, Jong-Won
    Park, Hwa-Young
    Lee, Soo-Youn
    Lee, Hwan Hyo
    Park, Jin Wan
    Kimj, Shi-Yeon
    Yoon, Hee-Hoon
    Jung, Doo-Hee
    Choe, Yon Ho
    Lee, Suk-Koo
    CELL TRANSPLANTATION, 2007, 16 (06) : 629 - 637
  • [40] Liver transplantation in glycogen storage disease type I
    Boers, Susanna J. B.
    Visser, Gepke
    Smit, Peter G. P. A.
    Fuchs, Sabine A.
    ORPHANET JOURNAL OF RARE DISEASES, 2014, 9
12345