Glycogen storage disease in two sisters: A case report

被引：0
|
作者：
Twanabasu, Sajal [1 ]
Duwadee, Prabin [1 ]
Homagain, Sushan [1 ]
Ghimire, Jeevan [1 ]
Rijal, Ram Chandra [1 ]
机构：
[1] Dhading Hosp, Dhading, Nepal
来源：
CLINICAL CASE REPORTS | 2023年 / 11卷 / 05期
关键词：
glycogen storage disease; hepatomegaly; hypoglycemia; metabolic;
D O I：
10.1002/ccr3.7318
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Key Clinical MessageGlycogen storage diseases (GSDs) are rare autosomal disorders that result from defects in glycogen metabolism. There are more than 12 types, each with distinct clinical features. Clinical scenario, biochemical abnormalities are useful for suspicion whereas liver biopsy and enzyme assay provides definite diagnosis. We report a case of two sisters with similar clinical symptoms suggestive of the disease.
引用
收藏
页数：4
相关论文
共 50 条
  • [1] Glycogen storage disease type XV: A case report
    Gardiner, A.
    Scalco, R.
    Pitceathly, R.
    Holton, J.
    Hanna, M.
    Schapira, A.
    Houlden, H.
    Lachmann, R.
    Quinlivan, R.
    NEUROMUSCULAR DISORDERS, 2015, 25 : S221 - S221
  • [2] Glycogen storage disease type XV: a case report
    Scalco, R. S.
    Gardiner, A.
    Desikan, M.
    Houlden, H.
    Hanna, M. G.
    Schapira, A.
    Lachmann, R.
    Phadke, R.
    Holton, J. L.
    Quinlivan, R.
    NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2016, 42 : 50 - 50
  • [3] Glycogen storage disease: report of two cases in the city of Cartagena
    Alvear, Ciro C.
    Barboza, Miriam
    Rodriguez, Zeudy K.
    COLOMBIA MEDICA, 2010, 41 (01): : 76 - 81
  • [4] Recurrent pancreatitis and sepsis in glycogen storage disease type Ia caused by complex heterozygous mutations in 2 sisters: Case report
    Liu, Qin
    Yu, Fang
    Lu, Huilin
    Luo, Jian
    Sun, Ting
    Yu, Lu
    Gan, Shenglian
    MEDICINE, 2022, 101 (52)
  • [5] GLYCOGEN STORAGE DISEASE OF MUSCLES - REPORT OF A CASE WITH UNUSUAL FEATURES
    SANTAGNESE, PAD
    ANDERSEN, DH
    METCALF, KM
    JOURNAL OF PEDIATRICS, 1962, 61 (03): : 438 - +
  • [6] PORTACAVAL SHUNT IN TREATMENT OF GLYCOGEN STORAGE DISEASE - REPORT OF A CASE
    HERMANN, RE
    MERCER, RD
    SURGERY, 1969, 65 (03) : 499 - &
  • [7] A CASE OF GLYCOGEN STORAGE DISEASE
    REYES, LA
    WONG, PWK
    JOURNAL OF PEDIATRICS, 1969, 74 (05): : 825 - &
  • [8] GLYCOGEN STORAGE DISEASE - REPORT OF A CASE WITH ABNORMAL GLYCOGEN STRUCTURE IN LIVER AND SKELETAL MUSCLE
    FORBES, GB
    JOURNAL OF PEDIATRICS, 1953, 42 (06): : 645 - 653
  • [9] Myopathy in glycogen storage disease type IV: case report of a family
    Fedoseeva, I. F.
    Poponnikova, T. V.
    Pinevich, O. S.
    BYULLETEN SIBIRSKOY MEDITSINY, 2024, 23 (03):
  • [10] Ophthalmologic involvement in glycogen storage disease type 1: Case report
    Zaafrane, N.
    Feki, O.
    Mahjoub, A.
    Ben Abdesslem, N.
    Sakji, F.
    Yakoubi, S.
    Ghorbel, M.
    JOURNAL FRANCAIS D OPHTALMOLOGIE, 2024, 47 (02):
12345